P530 (2019) By Nakapanaka Jude Mayanja & Kabuye E

GENETICS
This is the study of the mechanism by which characteristics (traits) are transmitted from parents to the
offspring. This transmission occurs via gametes during fertilization in sexually reproducing organisms.
Therefore, genetics can also be referred to as the study of inheritance of characteristics of the parents by the
offspring. The characteristics of organisms are controlled by internal factors called genes located on
chromosomes. A gene is a section of DNA that determines a particular characteristic in an organism or a
section of DNA that controls the production of a polypeptide chain in an organism.
The importance of genetics
a. It is used in genetic engineering where better breeds and varieties of plants and animals are produced.
This is intended to increase production and improve resistance of diseases and pests. This can be done
locally through cross breeding.
b. It is used in the legal profession to determine the paternity of the child i.e. genetics is used to settle
paternal disputes by confirming who the father of the child is. This can be proved through use of blood
groups as these groups are genetically inherited and can therefore be used to prove the rightful father of
the child. If the blood groups fail to prove then DNA analysis can be used.

c. They are used in blood transfusion. Genetic principals are used during blood transfusion so that blood
being transfused is compatible to avoid blood clotting (Agglutination) in the recipient.

d. It is used in the control of the transmission of genetic diseases. These diseases are genetically
engineered e.g. haemophilia, colour blindness, e.t.c. can be eliminated from the human population by
following the principles of genetics as these diseases are genetically inherited.

e. It can be used in crime investigation i.e. use of the DNA finger prints to identify criminals.

f. It is used in molecular biology to manufacture artificial enzymes, hormones and vaccines.

g. It enables humans to choose the right partners during marriage by choosing those with characteristics
for reproduction.

TERMINOLOGIES INVOLVED IN GENETICS

Alleles: These are alternative forms in which the gene can exist but control contrasting features of
characteristics. Alleles exist in pairs e.g. consider a gene for height. This gene can be expressed inform of
allele as T (for tallness) and t (for shortness). Therefore these two alleles can exist as TT and tt.
Locus (plural loci). This is the position on the chromosome where the genes are located.
Dominant allele. A dominant allele is the one that can express its self phenotypically in both homozygous
and heterozygous forms.
Recessive allele. This is an allele that can only express itself phenotypically in the homozygous form as it
is suppressed by the dominant allele in the heterozygous form.
Note: Recessive alleles are presented by small letters (lower case) while dominant alleles are represented
by capital letters (upper case).
Phenotype. This is the physical or outward appearance of an organism.
Pure breeding (breeding true). This is where the individuals crossed are homozygous and therefore
produce consistently the same characteristic, generation after generation. A pure breed should therefore be
a homozygous individual when considered for a particular characteristic

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Crossing(X). This refers to the mating of the male and female organisms under a consideration.
Homozygous. This is a condition where an individual possess identical alleles for a particular gene e.g.
homozygous dominant (YY, TT, AA) or homozygous recessive (yy, tt, aa)
Heterozygous. This is a condition where an individual possess non-identical alleles for a particular gene
e.g. Tt, Bb. Heterozygous individuals are genetically called carriers of the recessive characteristic
Recessive characteristics can only be expressed when two carriers make an organism which is
phenotypically recessive e.g. the sickle cell anemia individuals, albinos, hemophiliac e.t.c
Hybrid. This is heterozygous individual obtained from crossing two parents with contrasting
characteristics but when these parents are pure breeding e.g. tt X TT
First Selfing. This refers to the crossing of offspring of the same parents.
Filial generation (F1). This refers to the set of offspring obtained from crossing two pure breeding parents
with contrasting characteristics. These individuals are therefore heterozygous or hybrids.
Trait. Each variant for a characteristic e.g. short stem or tall stem for pea plant. Height is the trait.
Second filial generation (F2). This refers to the set of offspring that are obtained from crossing mature
hybrid of parents of the first filial generation.
Test cross. This is the mating of a phenotypically dominant individual with a recessive individual so as to
determine the genotype of the phenotypically dominant individual. This is due to the fact that a
phenotypically dominant individual can either be heterozygous or homozygous. If the homozygous
offspring resemble the dominant parent then the dominant parent is said to be homozygous and if the
offspring formed from the test cross shows a phenotypic ratio of 1:1 (test cross ratio), then the parent with
an unknown genotype is heterozygous.
Back cross. This is the mating of an offspring with one of its parent so as to prove the genotype of the
parents.

Reciprocal cross. This is a cross in which the phenotypes of the same characteristics are interchanged
among the parents during a genetic experiment.

Cistron. A length of DNA containing a specific sequence of bases that encodes a mRNA molecule
controlling formation of a specific polypeptide chain or protein

MENDEL’S GENETIC EXPERIMENTS AND MONOHYBRID INHERITANCE

This is the inheritance of a single pair of characteristics from the parent to offspring. Examples include,
height, blood groups, albinism, sickle cell anaemia, and sex-linked characteristics e.t.c.
This mechanism of inheritance was discovered by a scientist called Gregor Mendel who carried out a
number of genetic experiments using the garden pea plants. He also observed many sexually reproducing
organisms and found out that they had variations among themselves despite being of the same species.
In these experiments, Mendel carried out cross pollination between tall pea plants and short pea plants he
had grown in his garden. In order to carry out a proper cross, Mendel covered the stigma of all flowers of
one group of pea plants in order to have male pea plants. He also removed all the anthers from the flowers
of another group of pea plants in order to have female pea plants. Using a brush, he transferred pollen to
tall pea plants from short pea plants. He observed the F1 offspring were all tall. He then selfed the F1 pea
plants to get F2 which was found to be a mixture of tall pea plants and short pea plants.
Conclusions from Mendel’s experiments

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About the actual mechanism of inheritance

1. The phenotypic characteristics are under the control of internal factors (these factors were later named
genes).
2. It is these factor that are transmitted from the parents to the offspring i.e. (from one generation to the
next).
3. For each character, an organism inherits two alleles (internal factors) from the parents; one from each
parent and it is these factors which account for variations in inherited characters.
4. The factor which phenotypically appears in F1 generation is dominant to the one which fails to
phenotypically appears in F1 but instead appears in the F2 generation.
5. During sexual reproduction the egg cell and the sperm makes equal contribution to each of the
characteristics of the offspring such that the offspring has both male and female parental characteristics.
This is because the two alleles for a heritable character separate or segregate during formation of
gametes in meiosis and end up in different gametes.

6. Always in F2 generation, the dominant and recessive offspring appear in a phenotypic ratio of 3:1. The
results, using proportions only, are summarised in the table below;

Character Type of cross F1 F2 generation Ratio

generation
Stem length Tall X Short All tall 787tall, 277short 2.84:1
Cotyledon Green X Yellow All yellow 6022yellow, 2001green 3.01:1
colour
Seed type Smooth X Wrinkled All smooth 5474 smooth, 2.96:1
1850wrinkled
Seed coat Coloured X White All coloured 705 coloured, 224 white 3.15:1
Pod colour Green X Yellow All green 428 green, 152 yellow 2.82:1
Pod shape Inflated X All inflated 882 inflated, 299 3:1
Constricted constricted
Flower position Terminal X Axial All axial 651 axial, 207 terminal 3.14:1
Flower colour Purple X white All purple 705 purple, 224 white 3:1

Mendel was successful in his genetic experiment because;

• He had a systematic approach to his work. This is because he dealt with a single characteristic
(monohybrid inheritance) and then later he considered two characteristics simultaneously (di-hybrid
inheritance).
• He was very patient during his experiments so that he was able to reproduce the garden peas for
several generations.
• He used a very a good experimental organism, the garden peas (Pisum Sativum).

In order to perform good genetic experiments, Mendel used a garden pea plant because such plants have
good characteristics for genetic experimentation which included the following;

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• They have many distinct contrasting characteristics without any intermediates such as tall and short
stems, smooth and wrinkled seeds, yellow and white flowers i.e. a good genetic organism must
show many discontinuous variation characteristics
• They produce large numbers of offspring which provide a large sample for experimentation so as
to get reliable results.
• It is possible for them to undergo controlled pollination.
• They are so small that they can be conveniently handled.
• They have a short life span and they can be reproduced very quickly before the end of the
investigator’s life span.
• Pure breeds were easily obtained
They are easily grown
Currently there are two organisms which are also frequently used for genetic experiments. These are
Drosophila melanogaster and Neurospora crassa.

1. Drosophila melanogaster (fruit flies)

• The diploid nucleus contains only four pairs of chromosomes
• The larvae have giant chromosomes in salivary glands. These chromosomes have numerous dark
transverse bands which are useful in the study of chromosomal mutations.
• The flies are easily cultured in small bottles containing simple growth medium. They have a short
life cycle, each cycle is completed in about 10 days. They can produce a large number of
offspring.
• The flies have many distinct characteristics which are easily mutated and thus can be used for
genetic studies. For example, body colour, eye shape and wing length.
• Males and females are easily distinguished. Controlled mating experiments and counting of flies
can also be carried out easily.
2. Neurospora crassa (Bread fungus)
• The fungus can be grown in a minimal medium containing sucrose, inorganic salts and the growth
factor biotin.
• It has a relatively short life cycle.
• The diploid nucleus contains only seven pairs of chromosomes. Gene positions on the
chromosomes can be mapped easily.
• The haploid ascospores occur in linear series in the narrow tubular ascus and can be dissected out
and grown individually.
• Most of the lifecycle occurs in the haploid stage and recessive gene are easily detected
Note. The choice of such experiments depends on a number of factors;

o easy to breed – must readily produce offspring and not be particular with whom they breed
o readily grown/cultured/reared – the organisms should be convenient and easy to keep
o cheap and easy to breed – they should not have highly specific nutritional requirements
o small size – it follows that the smaller the organism the more likely the previous conditions are to
be met
o short life cycle – this allows many generations to be investigated in a short period
o production of many offspring – to give statistically accurate results large numbers of offspring need
to be produced from each mating
o early sexual maturity – this allows more rapid production of subsequent generations
o obviously recognizable feature – genetic differences should be easy to observe
o sexual dimorphism – it is helpful if the male and female of the species are quickly and easily
distinguished

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MENDEL’S FIRST LAW OF INHERITANCE

From this experiment about monohybrid inheritance, he suggested a law of genetics which is known as the
law of segregation.

This law states;

The characteristics of a diploid organism are controlled by alleles which occur in pairs. Of a pair of
alleles, only one is represented in a gamete.

Explanation of Mendel’s first law of inheritance

This law is explained by meiosis which halves the chromosome number in that each characteristic of an
organism is determined by a pair of alleles located on the pair of homologous chromosomes in the nucleus
of the cell of an organism. Each allele of the pair for a characteristic is therefore carried by a single
chromosome of the homologous pair when homologous chromosomes segregate and move towards
opposite pole of the cell during anaphase I of meiosis. This results into each gamete carrying one allele of
the gene pair due to the separation of a pair of chromatids during anaphase I.

Diagram page
453 f.a

WORKED EXAMPLES

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1. In a garden pea plant there are two forms of heights i.e. tall and short. When a pure breeding tall pea
plant was crossed with a short pea plant all the offspring obtained were tall when the offspring were
selfed a phenotype ratio was obtained in F2.
a. Using suitable genetic symbols, workout the genotypes and phenotypes of the F2 generation
b. What are the phenotypic and genotypic ratios of the F2 generation.

c. Explain how you would determine the genotype of F1 tall pea plants formed

d. Suppose 300 pea plants were produced in the F2 generation

i. How many were tall?

ii. How many were short?

Solution

2. Suppose a man who is a tongue roller marries a woman who is a non-tongue roller and all the children
obtained in F1 are tongue rollers.
(a) Work out the phenotypic and genotypic ratio as obtained in F2 generation.
(b) What is the probability that the 4th born is a non-tongue roller?

Carriers and genetic diseases

Aa X aa

A a a

AA aa
develops the disease doesn’t develop
the disease
Genetic disease caused by a dominant allele

A genetic disease is an illness that is caused by a gene. Most of the 400 genetic disease are caused by a
recessive allele of a gene. The diseases only develop in homozygous recessive individuals. Heterozygous
individuals do not show any symptoms of the diseases but can pass on the recessive allele to their
offspring. These individuals are called carriers. Genetic diseases due to recessive alleles usually appear

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unexpectedly since both parents must be carriers (they do not show symptoms of the disease) they are
unaware of this. The probability of these parents having a child with this disease is 25%. Dominant alleles
cause very few genetic diseases. Carriers of such genes also suffer from the diseases. If one parent has the
disease, the chance of inheriting it is 50 percent

Aa X Aa

A a A a

AA
Note: Aa Aa aa
Not Albinism is a monohybrid condition due to lack of melanin pigment in the skin. It arises due to a
a)
mutation which alters
Carrier carrier
the gene responsible for the synthesis of melanin. This makes an albino to have
white hair, very light-coloured skin and pale pink eyes.

b) Most genetic diseases reduce the chances of survival and reproduction, so the alleles causing them are
Does not
not develop
usually the disease
passed on to offspring and remain very rare. There is a small number of genetic diseases
where the frequency of the allele causing them is much higher. In these cases the allele must confer an
advantage, causing its frequency to increase by natural selection. Sickle cell is an example of this
Worked example

3. A man with normal skin marries a carrier for albino skin.

(i) What is the probability that some of their children will be albinos?
(ii) What is the probability that the second born child will be a carrier?

FACTORS WHICH MODIFY OR AFFECT MENDEL’S MONOHYBRID 3:1 AND 1:2:1

RATIOS
1. Lethal genes: These are genes that lead to the death of the bearer. The gene can either be
dominant or recessive. Most of the lethal genes usually occur in homozygous recessive forms.
An example of a lethal gene with dominant alleles is the inheritance of coat colour in wild mice.
Lethal genes are divided into 3 major categories;
a. Gametic lethal genes. These are genes which kill the gametes and therefore prevent
fertilization.
b. Zygotic lethal genes. These are genes which kill the zygotes and embryos before birth e.g.
the gene that determine coat color in mice.
c. Infantic lethal genes. These are genes which kill individuals between birth and reproductive
stages e.g. the gene that determines chlorophyll formation in maize, sickle cell anaemia in
man e.t.c.
Lethal genes in mice
The gene that determines coat color in mice is a zygotic lethal gene. In mice, there are two colours
determined by these genes i.e. yellow and grey (agouti). If two yellow mice are crossed they produce
both yellow and grey offspring however these offspring appear in a phenotypic ration of 2 yellow: 1
grey instead of 3:1.

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This is because the homozygous dominant yellow mice die in the uterus which reduces the
phenotypic ratio. The yellow mice produced are always heterozygous and this changes the
monohybrid genotypic ratio from 1:2:1 to 2:1. This is shown using the genetic symbols below;
…………………………………………………………………………………………………………

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Note

a) Dominant lethal genes are very rare in a population because they are usually manifested easily
in growth and development of the offspring at an early age and hence easily eliminated.

b) A pleiotropic gene is the one which controls more than one aspect or characteristic in the
metabolism of an organism e.g. the Y gene in mice is controlling both viability and coat
colour, for viability the Y gene acts as a recessive gene since homozygous YY mice dies in
the uterus and since Yy mice are yellow this phenomenon is called pleitrophy.

CO-DOMINANCE
This is a phenomenon whereby the alleles controlling a particular characteristic have equal powers of
expressing themselves in the phenotype in the heterozygote. Therefore, the offspring produced will
have a mixture of the two parental characteristics in the phenotype. Codominance is found in both
plants and animals.
In co-dominance we use capital letter to represent all the two alleles each letter corresponding to each
of the two characteristics.
Examples of co-dominance include the following;
a. The gene that determines coat colour in cattle
b. Inheritance of blood group AB in man
c. Human MN blood group

Inheritance of coat colour in cattle

Remember that we cannot use upper and lower case letters for the alleles, as this would imply that
one (the upper case) was dominant over to the other (the lower case). We therefore use different
letters R for red and W for white –and use these as superscripts on a letter that represents the gene, in
this case C for colour i.e. CR and CW
Consider a cross between a red bull and a white cow whose F1 (spotted) offspring are selfed. Workout
the genotypes and phenotypes in F1 and F2 generation stating in each case the ratios
Let CR represents the allele for red colour production in cattle

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Let CW represent the allele for no colour production in cattle

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Inheritance of sickle cell anaemia

This is an abnormal condition in which the Sickle cell anaemia is caused by a substitution
red blood cells collapse into a sickle shape mutation, in the gene that codes for the β-globin
under low oxygen concentration due to the polypeptide in haemoglobin. A single nucleotide
presence of abnormal haemoglobin (HbS) in base, Adenine is substituted by the nucleotide
the red blood cells. The normal haemoglobin base, Thymine. The sixth triplet code on the DNA
is found in red blood cells with a bi concave template of the DNA molecule that produces β-
disc shape amino acid chain changed from GAG to GTG.
Drawing This happened in the ovaries or testis. The triplet
code on the DNA strand is therefore CAC rather
than CTC. As a result, the mRNA produced has
the code GUG rather than GAG, and codes for the
amino acid valine (GUG) rather than glutamic acid
(GAG) this leads to the formation of HbS in the red
blood cells.
The substitution mutation occurs at the sixth amino
acid in the β-chain, this results in wrong amino
acid, valine, being incorporated into two of the β-
polypeptide chains. Valine is non-polar and
hydrophobic which makes its presence in the
haemoglobin (HbS) less soluble when
deoxygenated. Therefore when HbS loses its
oxygen, the molecules come out of solution and
crystallise (solidify) into rigid rod-like fibres. The
chains of haemoglobin join together into bundles
that are rigid enough to distort the red blood cells
into a sickle shape.
Effects of sickling red blood cells
a. Anaemia this occurs because the sickle cells are destroyed which lowers the amount of oxygen to
be carried leading to acute anemia. This leads to;
• Fatigue (weakness)
• Poor physical development
• Dilation of the heart which may lead to heart failure
• Infections which lead to frequent illness
b. Interference with circulation of blood because the cells get jammed in capillaries and small
arteries. This leads to;
• Heart damage which leads to heart failure
• Lung damage which leads to pneumonia
• Muscle and joint damage which leads to rheumatism and pain

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• Gut damage which leads to abdominal pain

• Kidney damage which leads to kidney failure
• Liver damage
c. Enlargement of the spleen because the sickle cells collect in the spleen for destruction
The effects above make the homozygous sufferers to often die before reproductive age.
Note: When sickle cells return high oxygen conditions in the lung, the haemoglobin chains break up
and the cells return to their normal shape. These changes occur time after time, as the red blood cells
circulate. Both the haemoglobin and the plasma membrane are damaged and the life cycle of a red
blood cell can be shortened to as little as 4 days. The body cannot replace red blood cells at a rapid
enough rate and anemia therefore develops. This gene can also be described as pleiotropic since it
has more than one effect in an organism.
In heterozygous individuals, half the molecules made are HbS and HbA i.e. the alleles HbA and HbS
are co-dominant and the faulty gene is not recessive. Heterozygous people are not affected except at
unusually low oxygen concentrations, such as when flying in an unpressurised aircraft or climbing at
high altitude. Then some of the cells sickle. The heterozygous condition is known as sickle cell trait.
These individuals have a selective advantage over non carriers because they are far less susceptible
to malaria (the malaria parasite multiplies inside normal red blood cells) so are more likely to survive
in malaria infested areas, and pass on their genes to the next generation. A single copy of the sickle-
cell allele increases resistance to malaria. The final frequency of the gene in the population varies
according to the amount of malaria.
Using genetic symbols show the offspring obtained if;
a) a normal man marries a sickle cell anaemic woman.
b) another man who is a carrier of sickle cell anaemia of the same disease marries the same
woman.
Work out the phenotypic and genotypic ratios arising from these two marriages.
…………………………………………………………………………………………………………

…………………………………………………………………………………………….……………

……………………

Example

Consider a normal man mating with a woman with sickle cell anemia to obtain F1 offsprings which
will be phenotypically normal but carriers, if the two carriers mate to form F2 the phenotypic ratio
will be 1:2:1. Use genetic symbols to represent the information above
Solution

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Carriers (heteozygotes) of sickle cell anemia show the sickle cell trait, a co-dominant condition, in
which most of the red blood cells have normal hemoglobin and only about 40% of the red blood cells
have abnormal hemoglobin S. This produces mild anemia and prevents carriers of the sickle cell trait
from contracting malaria. This is because when the plasmodium that causes malaria enters a red
blood cell with hameoglobin S, it causes extremely low oxygen tension in the cell which leads to the
cell sickling in heterozygotes. These sickled cells are quickly filtered out of the blood stream by the
spleen, thus eliminating the parasites.
In humans MN blood group, the blood group is determined by the antigen types on the membrane of
red blood cells.
Genotype Phenotype (antigen on RBC)
M M
I I Blood type MM (antigen M only)
M N
I I Blood type MN (antigen M and
N)
N N
I I Blood type NN (antigen N only)
Antigens M and N are found on the surface of red blood cells. These antigens can stimulate
production of antibodies when injected into rabbits or guinea pigs. However, humans do not produce
antibodies for antigens M and N. The MN blood type is not medically important during blood
transfusion.

INCOMPLETE DOMINANCE
This is a condition whereby the characteristics of the alleles are expressed to varying degrees
together to form an F1 offspring (heterozygous) phenotype which is intermediate between the two
parental phenotypes but they do not blend. Therefore the F1 individuals do not resemble any of the
parents. They are as a result of partial expression of both the alleles.
It can also be defined as a situation where by the heterozygote shows a phenotype intermediate
between the parental phenotypes. In incomplete dominance no gene dominates the other in the
phenotype but instead forms intermediate phenotypes and are therefore represented using capital
letters. Incomplete dominance is found in both plants and animals.
Examples of incomplete dominance are;
(a) flower colour of Antirrhinum (snapdragon)
(b) flower colour of Mirabilis jalapa (4 o’clock flower)

Example
In a snapdragon plant, when a red flowered is crossed with a white flowered plant, all the F1 plants
obtained are pink flowered. When the F1 are selfed, the F2 phenotypic ratio is 1:2:1 instead of 3:1.
Using suitable genetic diagrams, explain the above results.

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Note. The allele for red flower colouration controls the production of pigments to make the flowers
appear pink but not red
MULTIPLE ALLELES
This is another form of inheritance. Multiple alleles refer to more than two possible alleles which can
occupy the same gene locus on a pair of homologous chromosomes. However, only two of these
alleles can occupy a locus on a pair of homologous chromosomes in a single diploid organism.
Examples of characteristics controlled by multiple alleles include;
a. Blood groups in humans
b. Coat colour in rabbits
c. Eye colour in rabbits and mice

INHERITANCE OF ABO BLOOD SYSTEM

The ABO blood group system is controlled by GENOTYPE PHENOTYPE
three alleles of an autosomal gene I IAIA (AA) Blood group A (homozygous)
(isohaemogglutinogen) occur at a single locus any IAIO (AO) Blood group A (heterozygous)
A B
time. These alleles are A or I , B or I and O or B B
I I (BB) Blood group B
IO. These alleles IA and IB are equally dominant IB O
I (BO) Blood group B
while the allele. IO is recessive to both. The A B
I I (AB) Blood group AB (co-
transmission of thee alleles occurs in a normal dominant)
Mendelian fashion. O O
I I (OO) Blood group O
The table below summarizes the possible
phenotype and blood group.
Physiology of the blood groups in humans
Human blood contains blood group antigens and blood group antibodies. Some of these specifically
determine blood groups e.g. allele A determines the production of antigen A, allele B determines the
production of antigen B and allele O does not code for the production of any antigens. Antigens A
and B occur on the plasma membranes of red blood cells. These antigens have corresponding protein
molecules known as blood group antibodies (agglutinins) in blood plasma. These antibodies can
react with the antigens under the lock and key hypothesis should they be similar to the antigens
brought into the recipient’s blood, leading to the formation of a precipitate or an agglutinate in blood.
Therefore an individual should not have blood group antibodies corresponding or similar to his
blood group antigens in order to avoid agglutination. Consequently, individuals should have the
following atibodies not corresponding to their antigen to avoid blood clotting.
Blood group A A B B AB O
Antigen A A B B AB None
Antibody b b a a None a and b

Example
1. A man having blood A marries a woman having blood group AB. What are the possible
genotypes and phenotypes of their offspring if the man is heterozygous for blood group A?

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………………………………………………………………………………………………………

………………………………………………………………………………………………………

………………

2. A boy has blood group A and his sister has blood group O. which combination of genotypes and
phenotypes do you think their parents have. Show your working.
………………………………………………………………………………………………………

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………………

The importance of blood groups

a. They are important during blood transfusion where they are used to prevent agglutination
(precipitation) of blood of the recipient. To avoid agglutination, the donors blood group should
be compatible (matching with) to that of the recipient by having the donors blood group antigen
that is different from the blood group antibody of the recipient.
When the recipient’s gets antibodies from the donor, such antibodies become diluted in the
recipient’s blood and so cause either minor clotting of blood or no blood clotting at all and so
cannot lead to death of the recipient. However, in case the donor introduces an antigen that is
similar to the antibody of the recipient, it stimulates the recipient’s blood to produce more
antibodies which attack and react with the donor’s antigen to cause severe blood clotting.
Therefore an individual with a specific antigen on the red blood cell membrane does not possess
its corresponding antibody in the blood plasma to avoid agglutination.
Blood plasma permanently contains two blood group antibodies a and b which do not correspond
with a specific antigen in blood to avoid agglutination e.g. a person with blood group A has
antigen A and antibody to avoid agglutination. A person with blood group B cannot donate blood
to a person of blood O because antigen B in the donor’s blood will be attacked by antibody b in
the recipient’s blood leading to agglutination. The same applies to blood group A and blood
group AB donors to blood group O recipients.
It is possible for blood group A to donate blood to blood AB, because the donors blood, blood
group A, has antigen A which cannot stimulate the recipient’s blood group AB to attack antigen
A since blood group AB individuals lack antibodies that can attack antigen A to cause an
agglutination.
A person of blood group AB cannot donate blood to a person of blood group O. This is because
the donor’s blood has antigen A and antigen B, which stimulate the recipient’s blood to produce
corresponding antibodies a and b, which then attack and react with antigen A and B in the
recipient’s blood.
Blood group AB individuals can receive blood from all other individuals having other blood
groups. Therefore individuals with blood group AB are called universal recipients. This is
because such individuals have no antibodies in their blood plasma that can react with antigens A
and B in the donor’s blood.
Individuals with blood group O can donate blood to all other blood groups and are therefore
called universal donors. This is because blood group O individuals do not have any antigens in
their red blood cells that can react with antibodies in the blood plasma of the recipient to cause
agglutination.
The table below summarises the possible and impossible blood transfusions.

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Recipient Donor’s blood group

Blood group Antibody in A B AB O
plasma
A B ✓ X X ✓
B A X ✓ X ✓
AB None ✓ ✓ ✓ ✓
O a and b X X X ✓
✓ = compatible with recipients blood

X = Incompatible with recipient i.e. agglutination occurs

b. They are used in settling court cases about who the father of the
child is (i.e. paternity suits). Although blood groups cannot prove beyond reasonable doubt who
the father of the child is it is possible to use their inheritance to show that an individual could
possibly by the father of the child.
Consider a mother who is of blood group O having child of blood group O and the child
produced also with blood group O. she claims that the father is a man whose blood group is AB.
Since the child is blood group O its only possible genotype is IOIO and it must therefore have
inherited one IO allele from each parents. Since the man is of blood group AB he cannot donate
the IO to the child and therefore he cannot be the father of the child. Even if the father was found
to be of another blood group such as blood group A still the evidence will be insufficient because
any other man can possess such a blood group and donate the IO allele to the child. Therefore a
DNA test should be carried out to confirm who the father of the child is.
c. Blood groups can also be used as an evidence of evolution. This is because organisms of
different species having similar blood group systems such as the ABO system are believed to
have originated from the same ancestor in the course of evolution for example humans,
chimpanzees, gorillas, Baboons e.t.c.

THE RHESUS BLOOD GROUP SYSTEM

The rhesus blood group system is also inherited in a similar way to the ABO blood group system.
Individuals with red blood cells with the D-antigens (Rhesus factor) are said to be rhesus positive
(Rh+) however Rh+ allele is taken to be dominant over the rhesus negative (Rh-) allele. The Rhesus
factor is controlled by three alleles C, D and E which determine the production of D-antigens on the
surface of the red blood cells. Allele mainly determines the production of D-antigens and it is this
antigen which is the fundamental determinant of blood grouping under the rhesus blood group
system.
Marriage complications of the Rhesus system
If an Rh+ man marries an Rh- woman, most of their children are likely to die immediately after birth
or before birth. The first child usually survives because the time is too short for the mother to
produce enough antibodies known as anti D agglutinins which can pass to the foetus to cause death.
If a mother becomes pregnant after the first child, the Rh+ feotus formed can die due to antibodies of
the mother entering the foetal circulation. This is because during the first pregnancy, especially the
time of giving birth, the blood of the child which is Rh+ may mix with that of the mother which is
Rh-, thereby introducing D-antigens in the mother’s blood. Also, some of foetal erythrocytes of the
first child with D-antigens in them may cross the placenta and enter the body of the Rh- mother
towards the end of the gestation period. D-antigens will then stimulate the mother’s blood to produce
many antibodies called anti D-agglutinins which attack and react with the D-antigens introduced in
the mother’s blood if the mother becomes pregnant again and the child is Rh+. These antibodies in

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the mother’s blood will pass via the placenta and enter the foetal blood circulation, where they will
attack and react with D-antigens in the child’s blood causing the red blood cells of the child to clamp
together, this disease is known as heamolytic disease of the new born (erythroblastosis foetalis).
This results into acute anaemia of the foetus which can lead to death of the foetus. The problem may
be solved in two major ways;
a. The mother may be injected with anti-D-agglutinins in the first 72 hours after her first born so
as to make her immune system insensitive towards D-antigens.
b. By carrying out proper intermarriages where by Rh+ man marries Rh+ woman and Rh-
woman gets married to Rh- woman.

Another blood group system in humans called the MN blood group system is controlled by 2 alleles
M and N which are co-dominant. M and N alleles also determine the production of antigens
respectively. Individuals therefore have the following genotypes if this blood group system MM,
NN, MN.
ASSIGNMENT
1. Suppose a man having blood group A marries a woman who is heterozygous for blood group B
what are the possible genotype and phenotype.

2. A boy has blood group A and his sister has blood group B. what are the possible phenotypes and
genotypes of their parents.
3. If a father has blood group A and the mother blood group AB what are the possible genotypes
and phenotypes of the offspring.

DIHYBRID INHERITANCE

This type of inheritance whereby two characteristics are transmitted from the parents to the offspring
at the same time
When Mendel considered the inheritance of two characteristics simultaneously, he concluded that
these characteristics are inherited independently and each pair of alleles separates during meiosis and
during fertilization each of the alleles combines randomly with either alleles of another pair. From
this conclusion
Mendel made his second law of inheritance which states that;

“each of a pair of contrasted characters may be combined with either of another pair.”
Or
“Each of the two alleles of one gene may combine randomly with either of the alleles of another
gene.”
Mendel also described it as the law of independent assortment.
This law is explained by meiosis as follows. During gamete formation, during meiosis, the
distribution of each allele from a pair of homologous chromosome is entirely independent of the
distribution of alleles of other pairs. During metaphase I of meiosis homologous chromosomes align
at the equator of the spindle and subsequently separate (segregate) independently during metaphase I

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and move to opposite poles independently during anaphase I which leads to a variety of allele
recombination in the gametes formed, as long as each gamete has one allele for each gene.
Example
In the garden pea plant, the gene controlling flower colour is located on the same chromosome with
that controlling height. Suppose a pure breeding tall red flowered plant is crossed with a white short
flowered plant, the F1 offspring obtained are tall red flowered plants. If the F1 offspring are selfed,
a) What would be the phenotypic ratio in the F2 generation.
b) If 700 pea plants are formed in F2 generation, what would be number of pea plants in each
phenotypic class
c) How would you experimentally determine the genotypes of the F1 plants
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

Note: in dihybrid inheritance, some of the offspring formed in the F2 have a mixture of the two
parental phenotypes that gave rise to F1 and such offspring are known as recombinants while other
offspring in F2 resemble one of the two parental phenotypes that gave rise to F1 and such offspring
are known as parentals.

Recombinants arise when crossing over takes place during the formation of gametes in meiosis
which leads to the mixing of the two parental characteristics. The number of recombinants in F2 is
usually smaller than that of the offspring which resembles the parental phenotypes (parental
offspring). This is because crossing over occurs by chance which reduces the number of
recombinants formed.
Example 2
In Drosophila melanogaster flies, the gene determining the size of the abdomen occurs on the same
chromosome with that determining the length of the wings. When a pure breeding broad and long
winged female fly was crossed with a narrow and vestigial winged male fly all the F1 offspring
obtained head broad abdomen and long wings. If the F1 offspring were selfed to obtain F2.
a. Using suitable genetic symbols work out the phenotypes and genotypes that were obtained in F2
generation.
b. Suppose 480 flies were obtained in F2 work out the numbers of the flies for each phenotype class.
c. How many of these flies were recombinants.
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

…………………………………………………………………………

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INHERITANCE OF COMPLEMENTARY GENES

These are two or more genes which interact together in order to control a single characteristic in an
organism.
Inheritance of these genes therefore does not agree with Mendel’s laws of inheritance. Although
these genes control a single characteristic, they show independent assortment. Therefore, these genes
are passed on from the parents to the offspring in a normal Mendelian fashion. The best example of
complementary genes are genes which control the shape of combs in chicken.
In chicken there are four types of combs namely;
i. walnut comb
ii. single comb
iii. pea comb
iv. rose comb

These four types of combs are controlled by the two genes located at two loci situated on different
chromosomes and which interact together to give rise to the four comb types. The shape of the
combs is controlled by two genes which are represented by two alleles shown below;
Let P represent the allele for pea comb
Let R represent the allele for rose comb
The pea comb develops in the presence of the P-allele and in the absence of the R-allele while the
rose comb develops phenotypically in presence of R-allele and in the absence of the P-allele. When
both alleles, P and R, are present together a walnut comb develops. A single comb appears only in
the homozygous double recessive condition
Consider a cross between a pea comb shaped cock with a rose combed hen whose F1 offspring are
then selfed. What is the phenotypic ratio obtained in F2?
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

In this inheritance, the genes are usually situated at different loci at different chromosomes from
where they interact together and give rise to four distinct phenotypes for a single characteristic.
The walnut comb results from a modified form of co-dominance in which at least one dominant
allele of either pea comb or rose comb is present.

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This is an incidence where by a 9:3:3:1 phenotypic ratio is obtained for a single characteristic.
Although this ratio in this pattern of inheritance differs from the hybrid inheritance because;
a. The F1 progeny (offspring) resembles neither parents i.e. they are all walnut comb shaped
unlike their parents.
b. The F2 progeny also contains two new phenotypes which do not exist in the F1 parents
namely walnut and a single comb shaped and these appear in a higher ratio as compared to
the rose and the pea comb

MODIFICATION OF 9:3:3:1 PHENOTYPIC RATIO

This ratio is mainly modified by the inheritance of lethal genes, linkage of genes and epistasis

EPISTASIS Dominant epistasis. This is the type of epistasis

This is an example of gene interaction. where the epistatic allele is dominant such that in its
Epistasis refers to a condition in which presence it suppresses the phenotypic expression of
non-allelic genes interact during which the the dominant allele on another locus. This type of
epistatic allele of the epistatic gene on one epistasis changes the phenotypic ratio from 9:3:3:1 to
locus suppress the phenotypic expression 12:3:1.
of the hypostatic allele of the hypostatic In Leghorn fowl, there are white and coloured birds.
gene on another locus and are Colour is due to a coloured pigment produced by a
independently inherited. For example, dominant allele C. Normally birds are only white
when genes act in a sequence, as part of a when there are two recessive alleles cc for the gene.
biochemical pathway, an allele that However, another dominant allele I of a gene on a
produces a defective enzyme early in the different chromosome prevents the action of allele C.
pathway interferes with the expression of When the dominant allele C is present with dominant
another gene hence epistasis. allele I, no pigment is produced and the bird is white.
An epistatic allele is the one which The result of a dihybrid cross between the fowl with
suppresses another allele in the phenotype the genotype CCII and another with the genotype ccii
though they are not located on the same produces an F2 generation with the following possible
locus and the suppressed gene or allele at genotypes; CCII, CCIi, CcII, CcIi, ccII, ccIi, ccii,
another locus is the hypostatic one. which are white and CCii and Ccii which are
They are 3 types of epistasis which coloured. From the genotypes above, it can be
include the following; concluded that a bird possessing both dominant C and
i. Dominant epistasis dominant I allele will be white as well as genotype
ii. Recessive epistasis ccii. Without epistasis only the genotypes ccII, ccIi
iii. Isoepistasis and ccii would be white.
Recessive epistasis. This is the type of epistasis
where the epistatic allele is recessive, such that its
presence in homozygous condition, suppresses the
phenotypic expression of the dominant allele located
ot another locus. This type of epistasis changes the
dihybrid phenotypic ratio from 9:3:3:1 to 9:3:4.
Isoepistasis. This is the type of epistasis in which
both alleles and the non-allelic genes have equal
powers of suppressing each other in the phenotype.
This modifies the dihybrid phenotypic ratio to 15:1

Examples
In oats the inheritance of colour is controlled by the epistatic gene which has two alleles, one allele
being dominant for colour appearance while the other allele is for no colour formation (white or
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albino) i.e. the hypostastic gene is responsible for colour deposition or type of colouur. Where by
black is dominant over white
Consider a cross between homozygous black oat plant with a homozygous white oat plant and then
the F1 plants are selfed to get F2.
a. Work out the phenotypic ratio of the F2 generation
b. How many individuals are found in each of the phenotypic classes obtained in F2 if 130
individuals were found in F2?
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

Inheritance of coat colour in mice is another example of epistasis. Three phenotypes can occur.
Most wild mice have agouti (grey) coat colour. However there are some mice with black fur and
others have white fur. Fur colour is controlled by a pair of genes present at different loci. The
epistatic gene controls the presence of coat colour and has two alleles. The allele for agouti coat
colour (A) is dominant to the allele for black (a). White fur is caused by a recessive allele (w) on a
different locus and presence of (W) leads to deposition of colour. Homozygous recessive (ww) mice
are white/albinos even if the alleles for coloured fur (A or a) are also present. The colourless
precursor molecules are not converted into melanin pigments. Example, determine the probability of
obtaining albino mice if black coat coloured (aaWW) mouse was crossed with an albino (AAww)
mouse
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

1. LINKAGE OF GENES Although these genes occur on the same

Linked genes are more than two genes located on the chromosome, each one controls the
same chromosome but controlling different specific characteristic irrespective of the
characteristics and are inherited together as a single other. However, linked genes do not
black. show independent assortment during
Linkage is the occurrence of more than one gene on gamete formation and therefore the
the same chromosome which are inherited together phenotypic ratio obtained in F2 is 3:1
along with the chromosome as a single block. There instead of the expected 9:3:3:1 for the
are two types of linkage; autosomal gene linkage, two linked characteristics.
when the genes are on the same autosome, and sex- Sometimes crossing over occurs, thereby
linkage, when the genes are located on the sex separating the linked genes on the
chromosomes, mainly the X chromosome. chromosomes leading to the formation
Linked characteristics are the ones controlled by of recombinant gametes during meiosis
genes located on the same chromosome and so are and this gives an F2 phenotypic ratio of
transmitted together with the chromosome from 9:3:3:1 for the linked characteristics.
generation to generation.

Example
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In Drosophila flies the genes controlling body color and the length of wings occur on the same
autosomal chromosomes and are linked together. Consider a cross between a pure breeding grey
bodied long winged fly with a black bodied vestigial winged fly whereby the grey bodied is female
while the black bodied is male. If all the F1 flies obtained have grey bodied and long winged what are
the phenotypic and genotypic ratios of the F2 flies.
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

The above results are correct if there’s no crossing over during gamete formation.
In case the genes are not completely linked together in the chromosome crossing over can occur
between the non-sister chromatids so as to produce recombinant gametes and this gives a phenotypic
ratio in F2 of the 9:3:3:1 as shown below.
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

…………………………………………

CROSSOVER VALUE AND CHROMOSOME MAPS

The recombinant gametes are formed by crossing over between non-sister chromatids in meiosis I.
Such recombinant gametes lead to recombinant offspring in the phenotypes. Recombinant gametes
and recombinant offspring occur in lower numbers compared to the parental gametes and parental
offspring because crossing over occurs by chance. The percentage of recombinant offspring in the
progeny (total number of offspring) gives a cross over value which indicates the relative distance
between the genes on the chromosomes and the likely hood of undergoing crossing over.
Cross over value (C.O.V) = x 100%
The distance between genes on the chromosome is measured in arbitrary units known as map units.
1 map unit = 1 cross over value (C.O.V)
The larger the C.O.V, the more separated the two genes are on the chromosomes and the higher the
chances of crossing over taking place. The illustration of the distance between the genes on the
chromosome gives the chromosome map i.e. a figure that shows a relative distance between the
genes on the same chromosomes. The illustration of distance between the genes on the chromosome
is the chromosome map.

Example
In Drosophila flies the genes controlling body color and eye color occur on the same chromosome
and are linked together. In an experiment, a heterozygous female fly for grey body and normal eyes
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was crossed with a black body and purple eyed fly. In these flies, grey body is dominant over black
while normal eyes are dominant over purple flies. If 1000 offspring were obtained from this cross as
shown in the table below;
Expected Phenotype Genotype Number
number obtained
250 Grey, normal GgNn 480
eyes
250 Grey, purple Ggnn 18
eyes
250 Black, normal ggNn 17
eyes
250 Black, purple Ggnn 485
eyes

a) Parental phenotype: grey body normal eyed fly x black body purple eyed fly. Show the results of
this cross
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

The obtained results in the test cross differ from the expected ones because the genes are linked
together on the chromosomes and were separated by crossing over which occurs by chance hence
resulting into formation of fewer recombinants compared to the parents.
b) Cross over value = x 100%

…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

c) Example 2
Further experiment on these flies indicated that the genes for body color, length of wings and eye
color are on the same chromosomes. Using the information in the table below calculate the cross
over value and illustrate the distance between the genes.
Expected Phenotype Genotype Obtained
250 Grey, long GgLl 400
250 Grey, Ggll 95
vestigial
250 Black, long ggLl 105
250 Black, Ggll 40o
vestigial

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…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

…………………….

NOTE: Drawing the chromosome map is also called gene mapping where the position of genes are
shown on the chromosomes as well as the distance separating with them. Sometimes it is possible to
indicate many genes on chromosome and their distances of separation.
Consider the cross over values involving for different genes P, Q, R and S.
The distance separating these four genes is shown below;
P-Q = 24% R-S = 8%
R-P = 14% S-P = 6%
Draw the chromosome map to show the position of these chromosomes.
Answer. Draw the chromosome map for these genes
a. Insert the positions of the genes with the smallest cross over value in the middle of the
chromosome map.
b. Examine the next largest cross over value and insert both possible positions of its genes on the
chromosomes relative to either S or P.
c. Repeat the procedure for all the remaining cross over values until you reach the largest cross over
values.
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

FACTORS THAT AFFECT CROSSING OVER

1) The relative distance between the genes on the chromosome. When the genes are far apart
from each other on the chromosome, they have high chances of forming chiasmata in between
thereby leading to genetic exchange on the other hand when genes are very close to each other on
the chromosome, their chances of forming chiasmata is limited.
2) The position of the centromere on the chromosome. If the genes are very close the centromere
there chances of undergoing genetic exchange are limited. However, if the genes are far away
from the centromere, there are high chances that they can be exchanged by crossing over.
3) Temperature. Crossing over decreases with increase in temperature because the process of
meiosis requires suitable temperature that can promote efficient crossing over.
4) Age of the organism. Increase in age lowers the chances of crossing over. Meiosis is more
efficient in grown up adults before menopause stage in females and before senescence in male.
5) Mutagens. These can decrease or increase the rate of crossing over. The chances of crossing
over are greatly reduced by presence of chemical substances that inhibit chiasmata formation
thereby preventing cross over e.g. in drosophila flies.

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INHERITANCE OF SEX
The sex of an organism is determined by two factors namely; environmental conditions and genetic
factors.
Environmental determination of sex, In lower animals, sex can be determined by environmental
factors such as temperature, salinity, type of food e.t.c. for example in tadpoles the eggs laid in cool
places develop into males while those laid in warm places develop into females.
Genetic sex determination; the sex organs development can be determined by the sex genes or the
chromosomes. Under chromosomal sex determination, sex can be determined by;
a. The number of chromosomes. E.g. in bees the females are diploid and have 32 chromosomes
while the males are haploid and have 16chromosome. In grasshoppers the females have 24
chromosomes while the males have only 23 chromosomes.

b. The sex chromosomes. In heterogametic organisms, such as human beings, there are two sex
chromosomes that determine the sex of an individual namely the X and Y chromosomes e.g. the
females are XX and are described as homogametic while the males are XY and are described as
heterogametic. Therefore in these organisms it is the presence of the Y chromosome that makes
one a male and its absence makes one a female. This implies that it is the type of sperm (whether
X or Y) that fertilizes the egg which determines the sex of the offspring.
The X chromosome is large with many genes on it that are essential in both male and female
development. The Y chromosome is smaller, with far fewer genes. Part of the Y chromosome has
the same sequence of genes as the X chromosome (homologous part), but the genes on the
remainder of the Y chromosome are not found on the X chromosome (non-homologous part) and
are not needed for female development. One gene, the tdf gene, is only found on the Y
chromosome. It initiates the development of male features, including testes and testosterone
production. The homogametic females lack the Y chromosome with its tdf gene hence ovaries
develop instead of testes and female sex hormones are produced instead of testosterone.
In birds sex is determined by the X and Y chromosomes except that the females are XY while
males are XX.
In grasshoppers sex is only determined by X chromosomes where by the males are XO i.e. they
have only one X chromosome (XO) while the females are XX.
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

SEX LINKED CHARACTERISTICS

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This is the transmission of characteristics (from In the case of females, the X chromosomes
parents to offsprings) whose genes are located on are completely homologous to each other
the sex chromosomes i.e. the genes controlling such and this gives chances of development of
a character are transmitted along with those that carrier females (heterozygous females) for
determine sex on the same chromosome. sex linked characters who may never
Most sex linked characters are controlled by genes express the characteristic in the phenotype
located on the X chromosome and very few are as the recessive sex linked allele would be
controlled by genes located on Y chromosome. suppressed by the dominant allele on the
Examples of sex-linked characteristics include; counterpart X chromosome.
haemophilia, colour blindness e.t.c. Sex linked Sex linked characters are determined by
characteristics can therefore be defined as those recessive alleles. However sex linked
whose genes controlling them occur on the sex characteristics undergo a characteristic cross
chromosome and yet they do not determine sex. pattern of inheritance i.e. the fathers
Sex linked characters are often expressed more in transmit there sex linked characters to their
males than females. This is because the males being grandsons through their daughters who are
heterogametic have a non-homologous portion of carriers this implies that the father will not
the X chromosome while the sex linked allele is transmit the sex linked character to his sons
located and therefore such an allele cannot be but instead to his daughters. This is because
suppressed in the phenotype by any other dominant the son only inherits the father’s Y
allele. chromosome and not the X chromosome that
controls the sex-linked characteristics.
Although sex linked characters are mostly
carried on the X chromosome there are a
few of them which are carried on the Y sex
chromosome and these are called holandric
characters i.e. development of many hairs
in the nostrils and ears.

This implies that the genes of the sex linked

characters of the males are located in the non-
homologous portion and therefore whenever a
recessive allele of these characters appears, it has to
be expressed in the phenotype since it does not have
a counterpart allele that can suppress its phenotypic
expression.

In Drosophila, females are XX and males are XY. The gene for eye colour is located on the X
chromosome. The wild type flies have red eyes and are either homozygous or heterozygous for the
alleles. Male flies are hemizygous, carrying only one allele for eye colour in the single X
chromosome. When mutant white-eyed female Drosophila flies are crossed with wild-type (red-
eyes) male, all the F1 male offspring have white eyes while the female offspring have red eyes.
Let R represent the allele for red eyes
Let r represent the allele for white eyes
Let XR represent the X chromosome with the allele for red eyes
Let Xr represent the X chromosome with the allele for white eyes
Let Y represent the Y chromosome

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Parental phenotype red-eyed male X white-eyed female

Parental genotype XRY XrXr
Meiosis
r
Gametes XR X
all
Y

Fertilisation

F1 offspring genotype XRXR YXr

F1 offspring phenotype Red-eyed females White eyed male
Ratio 1 : 1

Probability :

Complete the cross to show the probability of the obtaining a red-eyed female when heterozygous
red-eyed female flies are crossed with white-eyed male flies.
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

Worked examples
Consider a normal man who marries a female whose father was having haemophilia and the mother
was homozygous normal.
- Using suitable genetic symbols, workout the phenotypes and genotypes of their offspring?
- What is the probability that this couple will produce a haemophilic boy?
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

Note:
1. Haemophilia is a condition whereby blood takes too long to clot after an injury leading to
excessive bleeding of the victim. This makes hemophiliac individuals rear in population as most
of them die before reproductive age. Although haemophiliac females are known, the condition is
almost entirely confined to males.
2. The females rarely survive beyond their first menstrual periods
3. Today people with haemophilia are treated with intravenous injections of the missing protein

Colour blindness is a condition whereby an individual fails to see the colors or fails to distinguish
between particular colors e.g. red, green color blindness where the red and green cone cells of the

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eye retina are defective due to some sex linked gene in an individual which does not allow such an
individual to distinguish between red and green. Colour blind individuals are more common in the
population than haemophiliacs because haemophiliacs have higher chances of dying before reaching
reproductive age to pass on their genes to the next generations whereas colorblind individuals
survive and reach reproductive age in most cases which enables them to reproduce and pass on their
gene of colour blindness to the next generation which increases their number in the population.
Besides, haemophiliac people may both choose not to marry due the lethal gene they have, thereby
becoming unable to pass on their genes to the next generation.
Example 2
Green color blindness is sex linked in man. A normal man married a color blind woman. Using
suitable genetic symbols workout the genotypes and phenotypes of their children?
…………………………………………………………………………………………………………

…………………………………………………………………………………………………………

……………………

Pedigree charts
Pedigree analysis is a systematic listing (using symbols or words); to trace the ancestors of a give
individual, of a ‘family tree’ for a large number of individuals, of the genetic pattern of inheritance
of a particular characteristic. Various symbols are used in pedigree charts

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Inheritance of sex-linked characters are traced by use of pedigree charts. In these a male is
represented by a square and a female by a circle. Shading within either shape indicates the
phenotypic presence of a character such as haemophilia. A dot within a circle signifies a normal
phenotype who carries the allele for non-production of factor VII.
A famous pedigree chart showing the inheritance of haemophilia from Queen Victoria in members of
various European royal families is shown

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SEX LIMITED AND SEX INFLUENCED CHARACTERISTICS

Sex limited characteristics are the ones which occur particularly in one sex. These characteristics
occur at a later stage in the life of an organism e.g. in human beings they normally occur at puberty.
In human beings the males have the following sex-limited characteristics beard, deep voice, hairs in
the ears and nostrils, e.t.c. In human females these characteristics include development of breasts,
widening of the hip girdles, e.t.c.
Sex influenced characteristics are those whose dominancy is determined by the sex of the bearer e.g.
baldness of the head occurs in males and not in females because the genes determining it are
dominant in males and recessive in females.

VARIATION
This is the description of the differences in phenotypic and sometime genotypic characteristics
shown by organisms belonging to the same species or natural population due to interaction between
the genes and the environment.
Variations can be clearly seen among sexually reproducing organisms due to some differences in
genetic constitution that occur during meiosis.

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Variations are important because they make organisms better adapted to their environment. This is
because some variations within the population are favorable (beneficial) to the organisms possessing
them making such organisms better adapted or fit to survive in their environment and this gives a
selective advantage to those organisms possessing them. Other variations are unfavourable because
they are disadvantaged in the environment and organisms possessing such. The organisms which
have beneficial variations therefore survive, grow and reproduce and pass on their favourable
characteristics to the next generation. If this continues for a long time it leads to the emergency of
new species in the population having good characteristics and therefore better adapted to the
environmental change. Variation is therefore a raw material for evolution during which new species
are formed.
TYPES OF VARIATION
There are two types of variation namely;

• Continuous variation
• Discontinuous variation
Continuous variation
This is the type of variation whereby characteristics in a given population show a smooth graduation
among offspring with the intermediate phenotype being the majority in the population and few
individuals being at the extremes of the characteristics. This implies that organisms do not show any
clear-cut differences among themselves.
It is brought about by the influence of many genes but can also be influenced by environmental
factors. Continuous variation characteristics are therefore influenced by both environmental
conditions and genetic factors.
Examples of continuous variation characteristics include skin colour, height, weight, intelligence
e.t.c. These characteristics are quantitative i.e. they can be measured and are controlled by many
genes. These characteristics are therefore described as polygenic characteristics i.e. characteristics
which are controlled by a number of genes during their transmission i.e. many genes control a single
characteristic. These genes are sometimes referred to as multiple genes. Each dominant allele has a
small quantitative effect individually on the phenotype and these allelic effects are additive.
Although these genes may determine a single characteristic each of them has its own alleles which
occur on different loci. These genes have an additive effect.
The transmission of characteristics that are controlled by many genes from one generation to another
is called polygenic inheritance and such characteristics are known as polygenic characteristics. The
statistical analysis of these characteristics gives a normal distribution curve shown below;

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The above graph shows that continuous variation characteristics appear in the graded pattern and
therefore show a smooth graduation. It also shows that most of the individuals in the population lie
along the normal.
Discontinuous variation
This is the type of variation where individuals show clear cut differences among themselves in the
population with no intermediate phenotypes between them but instead, they are grouped into distinct
categories. These characteristics are therefore qualitative and cannot be measured. Such
characteristics include sex, blood groups in man, tongue rolling, e.t.c.
This variation is controlled by a single gene and cannot be influenced by environmental conditions
i.e. they are purely genetically controlled.

CAUSES OF GENETIC VARIATION

This is caused by the gene reshuffling and mutations.
Reshuffling of genes refers to the random orientation of chromosomes at the equator of the spindle
during meiosis which changes the positions of the genes on the chromosomes.
Reshuffling of genes include the following;
I. Crossing over: this is the exchange of genetic material between the non-sister chromatids of
homologous chromosomes during pachytene stage of prophase I of meiosis. This produces new
linkage groups and so provides a major source of genetic recombination of alleles on
chromosomes which results into formation of recombinant gametes and leads to variation in the

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offsprings formed. When the gametes undergo random fertilisation, offsprings with different
genetic constitution are produced.
II. Independent assortment. During independent assortment in during metaphase 1, chromosomes
are distributed randomly at the equator and segregate (separate). It is by pure chance as to which
chromosome from each homologous pair ends up in a daughter cell at the end of meiosis and
therefore all sorts of allele combinations are possible in the gametes. This reshuffles the existing
alleles thereby producing new genetic recombination’s in of the gametes and the offsprings
formed from these gametes when they fuse randomly during fertilisation.
Independent assortment can therefore be defined as the random orientation of the chromatids of
homologous chromosomes (bivalents) on the equator of the spindle during metaphase 1 of
meiosis which determines the direction in which the pairs of chromatids move during anaphase 1.
This is so because after random arrangement on the equator of the spindle the chromosomes
subsequently segregate (separate) independently thereby leading to the mixing of genes in
addition during metaphase II the orientation of the pairs of chromatids is again random at the
equator of the spindle and determines which chromosomes migrate to the opposite poles of the
cell during anaphase II.
III. Fertilization. Fertilization occurs randomly between the male and female leading to mixing of
genes in different combinations.
IV. Mutation. Mutations change the genotype of an organism with respect to a specific characteristic
as it produces new alleles in the population hence making it to vary due to the combination of
mutant and non-mutant gametes during random fertilisation.
V. Genetic drift. This refers to a loss of genes from a small population or the change of genes of a
small population by chance alone and not natural selection which results into the change of the
gene frequency of the small population. This changes the phenotypic appearance of the
organisms thereby making them to vary.
VI. Cross breeding. This mixes genes from different individuals resulting into the formation of
hybrids (heterozygotes) with improved qualities compared to the parents. Cross breeding can be
defined as mating of organisms that are pure breeding in which one has better x-tics than another
which results into the formation of the hybrid offspring.
MUTATIONS
This refers to the sudden or spontaneous genetic changes which occur in the genetic constitution of
an organism. These changes are brought about by mutagens. Mutations change the genotype of an
organism with respect to a given characteristic as it produces new alleles in the population.
Mutations cause permanent genetic variations unlike reshuffling of genes whose genetic variations
are temporary as they can be undone (removed) in subsequent generations due to chromosomes
rearranging themselves alongside with their genes.
During mutation, some genetic material may be lost, doubled, inverted, translocated (moved), and
mixed, resulting into mutants having different genetic constitution from the non-mutants. The
mutants formed transmit these mutated genes to their offspring through random fertilisation which
makes the offsprings become different from the non-mutants.

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Individuals or cells resulting from mutations are known as mutants. The sudden changes in the
genetic constitution of an organism are brought about by substances called mutagens. The common
mutagenic agents include the following;
Gamma rays, Alpha and beta particles, X-rays, Cosmic rays,
Ultra violet rays, Excessive heat, Chemicals such as caffeine and heroin
DDT and other insecticides, Colchicine, Marijuana, Opium,
Cocaine, Formaldehyde, Some food preservatives, color and
sweeteners

Note: mutations usually occur in germ cells during gamete production and so lead to the formation
of mutant gametes. When these gametes fuse randomly with mutant or non-mutant gametes of
another parent, a mutant offsprings is formed which must have unique characteristics compared to
the parents. Such mutations are known as gametic mutations. Some mutations may occur in somatic
cells and are therefore known somatic mutations e.g. cancer.

TYPES OF MUTATIONS
There are two types of mutations (germ mutations) namely;
1. Chromosomal mutations
2. Gene mutations (or point mutations)
Somatic mutations cannot be inherited while gametic mutations can be transmitted from parents to
the offsprings indeed most of the gene and chromosomal mutations are gametic and can therefore be
inherited or they are usually recessive.
Chromosomal mutations
This refers to the changes that occur in the chromosome number or chromosome structure but can be
transmitted from the parents to the offspring.
Chromosome mutations usually occur during prophase I of meiosis where a number of mistakes are
made on the chromosome structure i.e. chromosomes break and join wrongly. It can also arise during
anaphase I and II where by some chromosomes may fail to separate and move to opposite poles
which brings about an increase in the number of chromosomes or polyploidy i.e. an increase in the
number of chromosomes beyond the normal diploid number. The process by which chromosomes
fail to separate during anaphase I of meiosis is known as non-disjunction.
Chromosomal mutations are divided into the following categories;
a. Mutations that change the chromosome structure.
b. Mutations that change the chromosome number.

a. Mutations that change the chromosome structure

Such mutations include the following;
i. Deletion

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This is a form of mutation where part of a chromosome breaks and gets lost leading to the
formation of a number of chromosomes that is shorter than the original chromosome. This is the
most dangerous form of mutation because it leads to loss of genes from the chromosome.
In human beings deletion leads to cat cry syndrome where the voice box fails to develop properly

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.
ii. Inversion
This is the form of mutation where part of a chromosome breaks, rotates through 180 degrees and
rejoins in the reverse way, this in turn changes the sequence of genes on the chromosomes as
well as the sequence of bases on the DNA strand which makes the offspring vary.
iii. Duplication
This is a form of mutation whereby a portion of chromosomes baring certain gene is doubled.
This form of mutation causes over amplification of certain phenotypes whose genes have been
duplicated. This form of mutation is of importance in crop and animal husbandry since it
increases yields and improves other characteristics.
iv. Translocation
This is a form of mutation whereby a portion of a chromosome breaks and is moved to join
another chromosome which maybe homologous or non-homologous.

b. Mutations that change the chromosome number

These are mutations that affect the whole chromosome and change the chromosome number in
the cell. This normally occurs during meiosis at anaphase I and II where two of the same type of
chromosomes or chromatids fail to separate and are transmitted together into a single gamete
leaving the other gamete empty a concept known as [Link] other chromosomes
not affected by non-disjunction are usually distributed normally by meiosis into gametes formed.
Non-disjunction results into formation the formation of gametes either with an extra number of
chromosomes (n+1) (n+2) (n+3) e.t.c. or a less number of chromosomes (n-1). Therefore, this
condition where by half of gametes contain extra number of chromosomes while the other half of
gametes formed during meiosis contain a chromosome missing is known as aneuploidy.
If a chromosome is present in triplicate in the fertilised egg (so that the cell has a total of 2n+1
chromosomes), the aneuploidy cell formed is said to be trisomic and if a chromosome is missing,
so that the zygote cell formed has 2n-1 chromosomes, the aneuploid cell is said to be
monosomic. Mitosis will subsequently transmit this variation to all embryonic cells (somatic
cells) leading to the formation of an organism with variation in the form of a set of symptoms
caused by the abnormal dose of genes associated with extra or chromosomes missing.
Some organisms have more than two complete sets of chromosome missing in each of their cells
and such organisms are called polyploids.
Illustration

Note: The zygote produced with odd number of chromosomes in the above cross containing less
than the diploid number of chromosomes usually fails to develop. But those with extra sets of

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chromosomes though odd numbered or even numbered usually develop and in most cases this
produces severe abnormalities. In humans, non-disjunction causes the following abnormalities.

1. Down’s syndrome (mongolism)

This disease is also referred to as mongolism and it is caused by an extra autosomal chromosome
in position number 21 of the homologous chromosome pairs.
Mongolism occurs as result of non-disjunction in chromosome number or during anaphase I of
meiosis in gametes formation leading to formation of abnormal gametes with 24 chromosomes.
In such a case if a normal gamete fertilizes an abnormal gamete, the zygote formed will have 47
chromosomes instead of the normal 46. This form of syndrome occurs in both males and females.
It can take place during sperm production but it’s more common during cogenesis.
Mongolism is due to a type of mutation known as translocation in which chromosome 21 is
translated or moved to chromosome 14 in most cases or chromosome 22 in some cases.
Most non disjunction occurs in meiosis I where it causes failure of the whole chromosome 21 to
separate if it occurs in meiosis II the chromatids fail to separate leading to Down’s syndrome.
Mongolism causes miscarriage in mothers and the chances of it to occur increases with age of the
females. This form of syndrome results in individuals having the following characteristics;
❖ They are mentally retarded
❖ They have a low resistance to infections and therefore have a short life span
❖ They have frequent saliva flow from the mouth
❖ They have slit eyed appearance.
2. HETEROSOME NON-DISFUNCTION
This is non-disjunction of sex chromosomes which produces a variety of aneuploid conditions which
include the following;
a. Klinefelter’s syndrome (XXY)
This results from non-disjunction of the sex chromosomes pair in either males or females
resulting into a male with 47 chromosomes and genotype XXY. It may occur if a normal Y
sperm fertilizes an abnormal egg. It may also occur if an abnormal sperm (XY) fertilizes a
normal egg (X). This is illustrated below;

Parental phenotype: male X female

Parental genotype (2n) XY X XX
Meiosis
Gametes n+1 XY n-1 all X
n
Fertilisation
Offspring genotype
XXY(2n+1) XO (2n-1)
Klinefelter’s Turner’s
Offspring phenotype syndrome (47 syndrome (45
chromosomes) chromosomes)
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Individuals suffering from Klinefelter’s syndrome have the following characteristics;

❖ They are infertile (sterile) and therefore they don’t produce sperms
although erection and ejaculation occurs.
❖ Their testes are usually very small compared to the normal males i.e.
the testes fail to grow to the expected size.
❖ They have very subnormal intelligence
❖ They tend to be taller than the average height
❖ They have little facial hair
❖ They possess some female secondary sexual characteristics e.g. developed breasts and
wide hips.
❖ Their trunk may show signs of obesity
b. Turner’s syndrome(XO)
This monosomy condition occurs in females resulting into a female with 45 chromosomes and
genotype XO. It occurs as a result of non-dysfunction which results into an abnormal egg or an
abnormal sperm. If an abnormal sperm fertilizes a normal egg this condition occurs and if an
abnormal egg that is empty is fertilized by a normal sperm containing X chromosomes this
condition again occurs. Individuals with Turner’s syndrome vary from others by having the
following characteristics;
❖ They do not show female secondary characteristics such as developed breasts,
menstruation, widening of hips e.t.c.
❖ They are infertile with no ovaries but with a small uterus.
❖ They have a short height than the women average height.
❖ They have a webbed neck.
❖ They are usually of normal intelligence
c. Triple X syndrome (XXX)
This also occurs in females due to non-disjunction which results into formation of an abnormal
egg containing XX chromosomes and if such an egg is fertilized with a normal X sperm the triple
X female occurs with 47 chromosomes and these individuals have the following characteristics;
❖ They are fertile females
❖ They are mentally normal
❖ They are physically normal
❖ They have a very high sex libido
d. XYY syndrome
This condition occurs in males with genotype XYY. It occurs in case the Y chromosome
undergoes duplication and fails to separate at anaphase I. This may result into production of
abnormal sperms containing YY which if they fertilize a normal Xegg and XYY syndrome
occurs. Individuals with this syndrome vary from other males by having the following
characteristics;
❖ They are usually very aggressive and therefore common in prisons and security forces.
❖ They are fertile males.
❖ They are giants.

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❖ They are mentally and physically normal

POLYPOIDY (EUPLOIDY)
This is a condition whereby cells of organism possess extra sets of chromosomes beyond the normal
diploid number. Polyploidy therefore makes the genetic constitution of an organism multiplied to
become 3n, 4n, 5n, 6n e.t.c.
Polyploidy is a useful phenomenon in plant bleeding where the chromosome number is increased so
as to improve on the vigor (characteristic) of the plant i.e. plants acquire better characteristics such as
high yields, high resistance to dieses, quick maturity, high resistance to pests e.t.c. It is more
common in plants than animals because the increased number of chromosomes in animal polyploidy
causes errors in gamete formation unlike in plants which usually reproduce vegetatively without such
errors.
Polyploidy brings about genetic variation with in a population as it results into the formation of new
and different genetic combinations within some individuals of the population. This makes some
polyploids with in the population better adapted than their original parents and so are favoured by a
selection pressure of nature to survive, reproduce and transmit their adaptive variations to their
offsprings. However, better adapted polyploids may fail to interbreed with diploid organisms,
thereby forming a new specie due to possession of extra sets of chromosomes beyond the diploid
number.
Polyploidy also results into formation of new species via interspecific hybridisation, a process in
which the F1 hybrids formed are sterile because their chromosomes cannot form homologous pairs
being that they arise from organisms of different species, but when a diploid number of
chromosomes of F1 hybrids is doubled due to non-disjunction, tetraploids (4n) can be formed as F2
hybrids which can inter breed among themselves to produce fertile offsprings. The F2tetraploids
formed by interspecific hybridisation can interbreed among themselves to form fertile offsprings but
cannot interbreed with any of the original parents because of having extra sets of chromosomes
thereby becoming a new species.
The F2 offsprings formed are described as allopolyploids because they are formed by a type of
polyploidy known as halopolypolidy. Halopolypolidy is the one which occurs when two different
species interbreed and produce a sterile F1 hybrid whose chromosome number gets doubled by non-
disjunction thereby changing the sterile F1 hybrids into fertile F2 hybrids. The halopolypolids formed
are fertile with each other but cannot interbreed with a diploid parental species. The F1 hybrids are
sterile because the set of chromosomes from one species cannot pair during meiosis with another set
of chromosomes from another species.
Illustration
Parental phenotype: cabbage X radish
Parental genotype (2n) 2n=18 X 2n=18
Meiosis
Gametes n=9 n=9

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Fertilisation
Offspring genotype

Offspring phenotype
When selfed, (after non-disjunction)
Parental phenotype: F1 hybrid X F1 hybrid
Parental genotype (2n) 2n=18 X 2n=18
Meiosis
Gametes 2n=18 2n=18
Fertilisation
Offspring genotype
4n=36
(Allopolyploids)

The tetraploids formed is fertile because homologous pairing of chromosomes can occur in meiosis,
as the two sets of parental chromosome present in diploid gametes are produced which contain nine
chromosomes from the parental cabbage and 9 chromosome of the parental radish.
h
X
There are two forms of polyploidy namely; autopolyploidy and allopolyploidy
1. Autopolyploidy
This is where the chromosome number of some individuals in a given species is increased either
naturally or artificially by preventing cytokinesis or preventing the formation of spindle fibres during
cell division. This can be done artificially using colchicines which prevents formation of spindle
fibers thereby increasing the chromosome number. This mutation prevents the tetraploids from
successfully interbreeding with the diploid plants of the original population leading to the
reproductive isolation. However, the tetraploids can still produce fertile offsprings by self-pollination
or by mating with other tetraploids
Autopolyploid can be as fertile as diploids if they have an even number of chromosomes and they
can be infertile if they have odd number of chromosomes because they cannot form homologous
pairs.
Colchicines and other related drugs have been used in breeding in certain varieties of tobacco and
tomatoes whose cells have a large nucleus.
2. Allopolyploidy
This is a condition which arises when the chromosome number in the sterile hybrids gets doubled
and produces fertile hybrids. Sometimes the F1 offsprings formed may be sterile but if these
individuals are crossed with another related
During meiosis in F1 hybrids chromosomes from each parent cannot pair together to form
homologous chromosomes hence the F1 hybrids produces gametes with a diploid set of
chromosomes. This brings about allopolyploid as illustrated below;

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The allopolyploid is fertile because homologous pairing of chromosomes can occur in meiosis as the
two sets of parental chromosomes are present. Allopolyploid is an example of interspecific
hybridization i.e. form of sympatric speciation which occurs when a new species is produced by the
crossing of individuals from two unrelated species.

Gene mutations (point mutation)

This is a sudden change in the sequence of nuclear nucleotides or bases of DNA. These mutations are
of the following types;
1. Substitution. This type of mutation whereby or more bases of nucleotides may be replaced with
wrong nucleotides or basses. If we consider the base sequence of GTC, a change to a single base
could result in one of the following;
• A silent mutation occurs if the substitution results in a different base occurring in a DNA triplet
but one that still codes for the same amino acid. The final polypeptide produced is identical to the
original and no effects on the final i.e. Cytosine is replaced by Thymine, GTC becomes GTT.
However, as both these replicates code for glutamine, there’s no change to the polypeptide
produced.
• A nonsense mutation occurs if the base change results in the formation of one of the three stop
codons that mark the end of a polypeptide chain e.g if Guanine is substituted with Adenine, GTC
becomes ATC. The final protein would certainly be shortened and the protein could not perform
its usual function.
• A mis-sense mutation arises when the base change results in a different amino acid being coded
for. In the example above, if the final base Cytosine is substituted by guanine, then GTC
becomes GTG. The amino acid histidine is coded for by GTG and this then replaces the original
amino acid, glutamine. If the original amino acid is vital in the formation of bonds that determine
the three-dimensional shape of the final protein then the new protein may not function as the
original protein. Sickle cell anaemia is an example of a mis-sense mutation.
2. Deletion. This is a form of gene mutation where a section of DNA is lost. This results into wrong
transcription and wrong translation processes in protein synthesis. This mutation is dangerous

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because it leads to absence of certain structures or wrong physiological processes taking place in
an organism. Additions or deletions lead to a frame shift in the DNA code, whereby every triplet
of bases that follows the change is altered. An example of deletion mutation is cystic fibrosis.
This causes very sticky mucus that causes lung congestion, reduced gaseous exchange and
blocked pancreatic ducts.
3. Insertion. This is where one or more nucleotides may be fixed in a particular DNA strand. This
also causes a frame shift. Every single triplet genetic code after the mutation point is altered. This
results in either a different DNA strand synthesised during semi-conservative replication or an
altered mRNA with many different codons is produced during transcription. This leads to
formation of an incorrect series of amino acids in the polypeptide chain. Frame shift mutations
cause severe effects on the phenotype and are sometimes lethal to the organisms.
4. Inversion. This is where a group of nucleotides in DNA becomes reversed after rotating through
180 degrees. Non-frame shift mutations does not cause the alteration of the whole nucleotide
base sequence (reading frame). Only the mutated single code in DNA and a single codon in
mRNA are affected. Therefore only one amino acid is different in the resultant polypeptide that is
synthesised. If the different amino acid is located within the active site of an enzyme or involved
in the folding of a particular protein, this would affect the functioning of the enzyme or enzyme.
Substitution and inversion are two types of non-frame shift mutations.

OUT OF CLASS EXERCISES

1. (a) State Mendel’s law of dihybrid inheritance.
(01 mark)
(b) In garden peas, a cross between plants with yellow-round seeds and those with green-
wrinkled seeds produces all offspring being with yellow-round seeds.
(i) Suggest an explanation about the inheritance of seed colour and seed shape in peas.
(02 marks)
(ii) State the genotypes of the parental and F1 offspring all with yellow-round seeds? (Use
suitable symbols)
(02 marks)
(c) Work out the F2 phenotypic ratio if the F1 plants are self-pollinated
(05 marks)
2. A man and a woman who are both normal for blood clotting have a haemophiliac son.
Haemophilia is a sex-linked recessive disorder.
(a) What is meant by sex-linked gene?
(b) Draw a single pedigree diagram top show the genotypes of the three individuals. Explain
how the pedigree is obtained.
(c) What is the probability that their second child would be
(i) a boy suffering from haemophilia?
(ii) a daughter who is a carrier?
(d) (i) Could a woman be a haemophiliac? Give reasons for your answer.
(ii) Explain why a human population will contain more colour-blind individuals than
haemophiliacs

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3. (a)Describe how DNA replicates semi conservatively

(10 marks)
(b) Describe the experiments carried out by Meselson and Stahl to demonstrate that replication of
DNA is semi conservative.
(10 marks)

4. (a) In snapdragon flower colour is determined by two alleles of R for red and W for white which
are
Incompletely dominants
A population has the following individuals distributed as shown in table 3 below
Flower colour Number of individuals
Red 450
Pink 500
White 50
(b) Using the information provided determine the
(i) total number of the R and W alleles in the population. (03
marks)
(ii) Genotype frequency for each genotype.
(03 marks)
(iii) Allele frequencies of each allele. (02
marks)
(c) State two causes of change in the allele frequencies and genotype frequencies in population.
(02 mar)

5. (a) What do you understand by the following terms?

i) Allele (01
mark)
ii) Co-dominance (01
mark)
b) In cats the allelic gene for black colour and ginger colour shows co-dominance. This gene is
sex-linked. A male cat with ginger coat colour was crossed with a female with black coat colour.
Using genetic symbols work out the genotypes of across of the F1 off springs.
(08 marks)

6. In cats, short hair is dominant over long hair, the gene involved is autosomal. Another gene
which is sex-linked produces yellow coat colour, its allele produces black coat colour and the
heterozygous combination produces tortoise shell coat colour.
a) If along haired black male is mated with a tortoise shelled female homozygyous for short hair,
what kind of offspring will be produced in F1.
(08 marks)
b) i) If the F1 cats are allowed to interbreed freely among themselves what are the chances of
obtaining long haired female.

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ii) Apart from being sex linked what else can you say about the inheritance of the gene for coat
colour.

7. Chickens with shortened wings and legs are called creepers

(i) When creepers are mated to normal birds, the offspring ratio is creepers: normal birds are in
equal frequency.
(ii) When creepers are mated to creepers the offspring ratio is two creepers: one normal
(iii) Crosses between normal birds produce only normal progeny.
(a) Explain these results using your knowledge of genetics (4
marks)
(b) Using suitable symbols work out the genotype and phenotypes of the offspring of the second
cross. (5 (c) State the genotypes of the parents in the third cross
(1 mark)
8. In humans, the inheritance of skin pigmentation is controlled by two genes a and B, such that the
presence of both genes in the genotype results in black pigmented skin. Presence of gene A in
absence of B results in dark brown pigmented skin and absence of gene A when B is present
results in light brown pigmented skin. Absence of both genes results in white skin (albino).
(i) What does the above information indicate about the inheritance of skin pigmentation in
humans? (02 marks)
(ii) Determine the phenotypic ratio of a cross between a black man and a dark brown woman
that results in offspring of all skin colours with light brown and white skins being fewer
but equal proportions and black and dark brown being more but also in equal proportions.
(07 marks)

9. The genetic code contains punctuation codons to mark the start and end of synthesis of
polypeptide chains on ribosomes
a) State the codes for;
i) Start codon (01
mark)
ii) Stop codon (01
mark)
b) Outline the process of the formation of mRNA from DNA
(03 marks)
c) State two structural differences between mRNA and DNA (02
marks)
d) Explain the role of mRNA in protein synthesis (02
marks)
e) What is the fate of the proteins made in a cell?
(01 mark)

10. (a) state where each of the following is found in a cell

(01 marks)
i. DNA

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ii. RNA
(b) Give three structural differences between DNA and RNA (03 marks)
DNA RNA

(c) What is the genetic significance of DNA replication?

(03 marks)
(d) Give two evidence that suggest DNA as a hereditary material
(02 marks)

11. (a) State two situations where Mendel’s laws would not apply
(02 marks)
b) In an animal species, individuals that are homologous for gene A or its alleles die.
Another independent gene B in the homozygous state, blocks this lethal effect, otherwise
gene B has no other effect on the organism.
i) Workout the expected phenotypic ratio of the viable offspring in a cross of individuals
AaBb and AaBB genotypes
(05 marks)
ii) State the type of gene interaction in b (i)
(01 mark)
c) Explain why a rhesus negative mother of blood group O is carrying a rhesus positive
child of any blood other than O, haemolytic disease of the newborn does not arise
(02 marks)
12. (a) The figure below shows the number of bases found in the sense strand and the antisense
strand of a short piece of DNA, and the mRNA transcribed from it

i) Identify the bases represented by each of the following letters P,Q,R and S (02
marks)
ii) Explain why the total number of bases in the DNA sense strand and the total number of bases
in the DNA antisense strand are the same
(02 marks)
iii) Explain why the total number of bases in the DNA sense strand and the total number of bases
in the mRNA strand are different (02
marks)

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(b) The mRNA has a sequence of 1824 bases. How many amino acids will join to form the
polypeptide chain?
(03 marks)
(c) Although DNA is double stranded only the sense strand determines the specific amino acid
sequence of a polypeptide chain. Suggest one role of the antisense strand
(02 marks)
13. A cross between two fruit flies with long wings and red eyes yields in the progeny mutant
phenotypes called curved wings and lozenge eyes as follows
Females Males
600 long wing red eyes 300 long wings red eyes
200 curved wings red eyes 100 curved wings red eyes
300 long wings lozenge eyes
100 curved wings lozenge eyes
(a) Suggest what type of allele causes (02
marks)
(i) Curved wings
(ii) Lozenge eyes
(b) Using suitable symbols state the genotypes of the parents
(03 marks)
(c) Work out the genotypes of the offspring of this cross
(05 marks)

14. (a). What is meant by the term Co-dominance. (02

marks)
(b). In mice, coat colour is determined by alleles A for agouti (black) and a for brown. Another
allele C, at another locus, however, determines the expression of colour and its recessive allele c
lack of it i.e. albino.
Show the phenotypic ratio of the F2offsprings of a cross between two homozygous brown and
agouti mice

(08 marks)
(d) The following is an account of tongue rolling (due to a dominant autosomal gene T) in a
family.
A man has both of his parents unable to roll their tongues and a wife who can roll her tongue
and so is her grandparents and mother but whose father and sister cannot.
They produce a son who can roll his tongue, marries a wife who can roll her tongue too and
they produce five children two of these are sons and neither can roll their tongues and three
daughters two of whom can roll and the other cannot. Express the transmission of tongue-
rolling in this family through the generations in the form of a pedigree.
(04 marks)

15. a) What is meant by the term linkage? (02

marks)

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In one species of tomato, the stems can be of different colours (green or purple) and may be hairy or
hairless. In an experiment, a homozygous tomato plant with green and hairless stem was crossed
with another plant homozygous for purple and hairy stem. The resulting F1 plants had purple and
hairy stems. By using symbols A for dominant allele for colour and a for recessive allele for colour,
and B for dominant allele for hairlines and b for recessive allele for hairiness
b) State the genotypes of each parent and F1 offspring
(03 marks)
c) When F1 plants were selfed, the phenotypes and number of offspring is given in the table below.
Phenotypes Number of offspring
Purple, hairy 293
Purple, hairless 15
Green, hairy 12
Green, hairless 98

i) In this dihybrid cross what would be the expected ratio of phenotypes in the offspring? (01
marks)
ii) Explain the difference between the expected ratio and the numbers shown in the table (02
marks)
iii) Calculate the crossover value and explain how it may affect the numbers of plants having
phenotypes purple-hairless and green-hairy
(03 marks)
d) If a tomato breeder wanted to find out which of the purple, hairy plants and homozygous for
both characters
i) State the genotype of the plant which should be crossed with the purple, hairy plants
in the test cross
(01 marks)
ii) Explain why this genotype should be used
(01 marks)

16. In guinea pigs, the gene that controls the production of enzyme tyrosinase to synthesise melanin
is epistatic to the gene at another locus that regulates deposition of melanin. Deposition of
melanin in the hair produces a coat colour and is regulated by the gene with allelic pair B and b.
B represents the dominant allele for black coat and b the recessive allele for brown coat. Another
gene (alleles A and a) located on a different locus, control the production of melanin. The alleles
A codes for enzyme tyrosinase which converts a colourless precursor to melanin. The recessive
allele a codes for an in active form of the enzyme.
a) What is meant by the term epistasis?
(02 marks)
b) Describe what happens if the animal is homozygous recessive aa?
(02 marks)
c) If a cross is carried out between a male guinea pig with genotype AaBb and a female guinea
pig with Aabb, what is the possible phenotypic ratio of the F1 generation?
Use a genetic diagram to show the results of the above cross.
(06 marks)

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17. (a) A biochemical analysis of a sample of DNA showed that 33% of the nitrogenous bases were
guanine. Calculate the percentage of the bases in the sample which would be adenine. Explain
how you arrived at your answer?
(06 marks)
(b) (i) What name is given to the triplet of bases which designate an individual amino acid.
(ii) If the triplet of mRNA which designates amino acid lysine is AAG (Where A= adenine
and G = guanine), what is the complementary triplet of three bases on the tRNA molecule?
Give a key for the letters that you use. (03
marks)

18. (a) Phenylketonuria (PKU) is an inherited disease caused by a recessive allele. If a woman and
her husband who are both carriers have three children, what is the probability of having the
following?
i. All three children being normal (01
mark)
ii. One or more of the three children having the disease (01
mark)
iii. All three children having the disease (01
mark)
iv. At least one child being normal (01
mark)
(b) In some pea plants a true breeding red flowered strain with terminal flowers gives all pink
flowers. Flowers can be positioned terminally or in the axis irrespective of flower colour. Work
out the F2 phenotypic ratio resulting from a cross involving true breeding axial red and terminal
white parents

(06 marks)
19. (a) What is meant by the term mitosis?
(02 marks)
Figure 5 shows four animal cells in different stages of the mitotic cell cycle.

cell 1 cell 2

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centriole
cell 3 cell 4 Fig 5

(b) Using the number given to each cell in Fig. 5, arrange the stages as they occur in the mitotic cell
cycle. (01

(c) (i) State what is occurring at A in cell 2.

(01 marks)

(ii) Label B is pointing to a region of the chromatid that contains repetitive nucleotide sequences.
State the name given to this region.
(01 marks)

(d) The centriole labelled in Fig. 5 is composed of microtubules.

(i) Suggest why a student would not be able to see a microtubule using a good quality light
microscope. (02
marks)

(ii) Outline the role of microtubules in mitosis. (02 marks)

(e) What is the significance of mitosis to eukaryotic cells

(01 marks)
20. (a) What is meant by the term linkage? (02
marks)
(b) In man the gene for red blood corpuscle shape is represented by alleles E (elliptical) and e
(normal), while another gene for rhesus blood is represented by alleles R for rhesus positive and
r for rhesus negative. The two genes are linked. A person may have alleles E and R on one
chromosome and e and r on its homologous partner.
(i) State possible genotypes of the gamete if
there’s crossing over (02
marks)
there’s no crossing over (01
marks)

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(ii) If a man with genotype EeRr marries a woman with genotype eerr, what is the
chance that this couple will produce a child with the genotype Eerr if linkage is complete?
(Show your working)

(04 marks)
(c) Give one disadvantage of linkage. (01
mark)

21. A farmer crossed sweat pea plants with purple flowers and long pollen grains with those red
flowers and round pollen grains. The F1 plants had purple flowers and long pollen grains.
However in F2 the off springs were:
4891 purple, long plants
390 purple , round plants
393 red, long plants
1338 red, round plants.
(a) (i) Determine the phenotypic ratio of the F2 off springs. (½
marks)
(ii) What theoretical phenotypic ratio would you have expected among the F2 off springs?
(½ marks)
(iii)What explanation can you give to the farmer for the experimental results obtained.
(2 marks)
(b) (i) By means of a genetic diagram explain how the results in F2 were obtained.
(6 marks)
(ii) Determine the cross over value for flower colour and pollen shape characteristics.
(2 marks)

22. In tomatoes the allele for red fruit R is dominant to that for yellow fruit r. The allele for tall
plant T is dominant to that for short plant t. The genes assort independent of each other during
their transmission.
(a) A tomato plant is homozygous for allele R. Giving a reason for your answer in each
case, how many copies of this allele would be found in:
(i) a male gamete produced by this plant?
(02 marks)
(ii) a leaf cell from this plant? (03
marks)
(b) A cross was made between two tomato plants.
(i) The possible gametes of the plant chosen as the male parent were Rt, Rt, rT
and rt. What was the genotype of this plant?
(½ mark)
(ii) The possible gametes of the plant chosen as the female were rt and rT. What was the
phenotype of this plant? (½ mark)
(iii) What proportion of the off spring of this cross would you expect to have red fruit? Use a
genetic cross to explain your answer. (05 marks)

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23. In Drosophila, the gene for wing length and shape of the abdomen are sex linked. The genes for
long wing and broad abdomen are dominant over those for vestigial wings and narrow abdomen
(a) Work out the phenotypes resulting from a cross between a vestigial winged and a broad
abdomen male and a homozygous long winged and narrow abdomen female fly in the
(i) F1 generation (06 marks)
(ii) F2 generation (04 marks)
(b) A cross between a female from the F1 generation in (a) (i) with a vestigial winged and
narrow abdomen male fly gave the following results;
Long winged, narrow abdomen flies = 35
Long winged, broad abdomen flies = 17
Vestigial winged, narrow abdomen flies = 36
Vestigial winged, broad abdomen flies = 18
Account for the phenotypes and their relative numbers in the cross (05
marks)
(c) Explain why Drosophila are commonly used in genetic experiments
(05 marks)

24. (a) How is sex determined in humans? (04

marks)
(b) A woman has four sons, one of whom is a haemophiliac and the other three are normal.
i. What are the possible genotypes of the woman and her husband?
(12 marks)
ii. Is it possible for the couple to have a haemophiliac daughter? Explain your answer
(04 marks)

25. The following experiments were performed using the fruit fly Drosophila melanogaster.
Experiment 1
Male flies showing two recessive sex linked characteristics: white eyes and vestigial wings were
mated with females which were true breeding for wild type eyes and wild type wings.
The female offsprings of this first cross were then mated with their parents. The results of this
second cross had 72 flies with white eyes, vestigial wings, 80 flies with white eyes, wild type
wings, 76 flies with wild type eyes, vestigial wings and 84 flies with wild type eyes, wild type
wings
Experiment 2
Male flies showing two recessive sex linked characteristics: white eyes and vestigial wings were
mated with females which were true breeding for wild type eyes and wild type wings.
The female offsprings of this first cross were then mated with their parents. The results of this
second cross had 128 flies with white eyes, vestigial wings, 21 flies with white eyes, wild type
wings, 17 flies with wild type eyes, vestigial wings and 136 flies with wild type eyes, wild type
wings.
a) i) Using suitable symbols, explain the crosses responsible results obtained in Experiment 1 .
ii) What is the cross over value?

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iii) What are the positions of the alleles of white eyes and vestigial wings on the Drosophila
chromosome in Experiment 1?
b) i) Why are the results observed in the second cross of Experiment 2 different from those
observed in a similar cross in Experiment 1?
ii) What are the positions of the alleles of white eyes and vestigial wings on the Drosophila
chromosome in Experiment 2 ?
c) Briefly comment on the significance of these results in relation to Mendel’s law of
Independent Assortment.

26. (a) Give any

i) Two similarities between DNA and RNA molecules.
Similarities:-
ii) Three structural differences between DNA and RNA MOLECULES

DNA RNA

1.

2.

b) The diagram shows the sequence of bases on one strand of a short length of DNA

ACC CGACCCCAG

This sequence should read from left to right

i) Give the base sequence that will be produced as a result of transcription of the complete length of
DNA shown in the diagram.
ii) Give the bases of the transfer RNA which will correspond to the sequence of bases shown in the
box on the diagram.
c) Of what importance are the following during protein synthesis?
i) Nonsense triplets.
ii) Ribosomes.
iii) ATPase enzyme.

27. (a) Distinguish between sex-linked and sex-limited characteristics, giving one example in each
case. (02 marks)
(b) In drosophila melanogaster the inheritance of eye colour is sex-linked. The gene for red eye
is dominant to that for white eye. A cross was made between a white eyed female and red eyed

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male, what are the phenotypes and genotypes of the F1? (Show your working)
(04 marks)
(c) What are the phenotypes and genotypes when a reciprocal cross in carried out? (show your
working)

(02 marks)
(d) Give two characteristics of sex-linked characters.
(02 marks)
28. What is a sex linked trait?
b) Name any three sex linked traits.
c) Coat colour in cattle is inherited by Co-dominance. A red bull was mated with a white cow.
Two of the produced were then crossed to get better varieties. Using well define genetic symbols,
carry out diagrammatic crosses and then give the genotypic phenotypic ratios of Calves in the
second filial generation.

29. (a) Mention any two reasons why Mendel chose to use Pisum sativum, in his experiments.
(b) Manx cats do not have tails. When a manx cat is mated with a normal long tailed cat,
approximately half of the offsprings are long tailed and approximately half are manx. When two
Manx are mated, the ratio of offsprings is 2 Manx to 1 log tailed cat.
(i) What does this suggest about the inheritance of the Manx condition in cats
(ii) Show by means of a cross, the inheritance of the Manx condition when two Manx cats
are mated.

30. In mice fur colour is controlled by a gene with multiple alleles as shown below;
Black & tan =Cbt yellow =Cy
Agouti =Ca black =Cb

(a) Explain the following crosses

i. Mice with agouti fur crossed with mice with black fur product all agouti offspring or
some agouti and some black.
(03 marks)
ii. Heterozygous parents with genotype Cy Cb produce a ratio of two yellow mice to one
black mouse.
(03 marks)
(b)(i) What is a test cross? (01 marks)
(ii) Describe how you would carry out a test cross to determine the genotype of a black
and tan mouse.
(03 marks)

31. A single dominant gene I blocks the action of gene C for colour formation at another locus in
some species of chicken such that presence of gene C results in coloured feathers in the absence
of gene I. The recessive alleles have no effect on colour. When white Plymouth rock and white

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leghorn chickens are crossed the F1 offspring are all white as expected but the F2 have both
white and coloured birds in the ratio 13 white: 3 coloured.
a) Explain why
i) Leghorns are white
(03 marks)
ii) Plymouth rock are white
(02 marks)
iii) F1 offspring are all white
(01 mark)
iv) Some F2 offspring are coloured
(03 marks)
b) of the F2 offspring how many are plymouth rock
(01 mark)

32. Two genes A and B located on different chromosomes interact to

determine three coat colours in mice. i.e. Grey, Black and Chocolate. Each gene has a recessive
allele.
The table below shows the phenotypes and genotypes of some of the mice

Genotype Phenotype

AABb Grey

Aabb Grey

aaBb Black

Aabb Chocolate

(a) State the expected coat colour of the genotypes given below (02
marks)

Genotype Expected coat colour

AA BB

AAbb

AaBb

aaBB

(b) Work out the genotypic and phenotypic ratios of the F2 offspring of a pure breeding Grey and
Chocolate mice.
(08 marks)
33. (a) Biochemical analysis of a sample of DNA showed that 33% of the nitrogenous bases were
guanine. Calculate the percentage of bases in the sample which could be adenine. Explain how
you arrived at the answer.
(03 marks)

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(b) (i) What name is given to the triplet of bases which designate an individual amino
acid?( )
(ii) State three properties of the feature given in (b)(i) above.
(1 )
(c) The following table gives the amount of DNA in a cell at various stages of cell division.
The least amount of DNA present at any stage is taken as 1.0 and this is used as a basis for
comparison of other stages.
DNA content of the cell Stage of cell division
1.0 (Meiosis) late telophase II
2.0 (Mitosis) early interphase, late telophase.
(Meiosis) metaphase II
3.0 (Mitosis) prophase
(Meiosis) anaphase I

Explain the differences in DNA content between:

i. Mitosis early interphase and mitosis prophase (02
marks)
ii. Meiosis anaphase I and meiosis metaphase II (02
marks)
iii. Meiosis metaphase II and meiosis late telophase (01
mark)

34. A pure breeding tall tomato plant with green leaves was crossed with a pure breeding dwarf
plant with molted yellow and green leaves. -All the F1 were tall and had green leaves.
a) Using genetic symbols ^show the results of the test cross of the F1offsrping
b) The actual results of the test cross gave the following off springs
A. Tall with green leaves - 43
B. Tall with mottled leaves - 07
C. Dwarf with green leaves - 05
D. Dwarf with mottled leaves- 45
Explain the difference in the results of the two crosses
(c) State three harmful genetic effects of inbreeding.

35. In domestic poultry the character of the comb is controlled by two genes R for rose comb and P
for pea comb. If the dominant allele R is present in the genotype with a dominant P then a
walnut comb is produced. If an individual is homozygous recessive for booth alleles a single
comb is produced. If an R is present without a P in the genotype the comb is rose whereas a P
without an R produces a pea comb.
(a) Determine the phenotypic ratio among the offspring of a cross between two birds whose
genotypes are RrPp X Rrpp
(06 marks)

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(b) A walnut crossed with a single produced among the progeny only one single combed
offspring. What were the possible genotypes of the parents? Show your reasoning
(03 marks)
(c) Suggest a cross between two birds of different comb shapes that produce offspring among
which all four combs are represented in equal proportions
(01 mark)
36. (a) In an oil seed plant species, the allele for tallness is dominant over that for dwarfness.
Meanwhile the allele for chlorophyll production and non-chlorophyll show incomplete
dominance. The heterozygous plants are variegated.
(i) Using suitable symbols, construct a diagram of a cross between a tall plant with green
leaves and a dwarf plant with variegated leaves, to show the genotypes and
phenotypes of the offspring.
(05 marks)
(ii) Explain why 25% of the offspring of the cross in (a) would fail to survive (02
marks)

37. A cross was carried out between two maize plants, one true breeding for brown pericarp and
shrunken endosperm, the other true breeding for white pericarp and full endosperm. The resulting
F1 plants, all white pericarp and full endosperm, were backcrossed against double recessive
plants.
The F2 results were;
81 white pericarp, full endosperm
89 brown pericarp, shrunken endosperm
14 white pericarp, shrunken endosperm
16 brown pericarp, full endosperm
a) Present the information given in a diagrammatic form
(05 marks)
(Symbols, W-white pericarp, F-full endosperm)
b) State which members of the F2 generation are recombinants
(02 marks)
c) Calculate the percentage number of recombinants present in F2 generation
(02 marks)
d) How many units apart on the chromosomes are the genes that determine pericarp colour
and endosperm type?
(01 mark)

38. a)Explain the following terms

(i) Recessive allele
(01mark)
(ii)Co dominant allele
(01 mark)
b) The figure below shows inheritance of the Rhesus blood group in one family
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P530 [2019] By Nakapanka J Mayanja 0704716641

Explain one piece of evidence from the diagram which shows that:
(i)the allele for Rhesus positive is dominant
(02 marks)
(ii) The gene is not on the X chromosome
(02 marks)
c) Sixteen percent of the population of Europe is Rhesus negative .What percentage of individual
would you expect to be heterozygotes for Rhesus gene?
(04 marks)

39. Wild rats are grey coloured while albinos rats are white in colour. The results below are for
breeding experiments involving the two species of rats
I. Mating albino rats with wild rats produced equal proportions of wild and albino
rats
II. Mating wild offsprings from I produced litter of wild and albino rats in the ratio
of 2:1 respectively
III. Mating albino rats produced only litter of albino rats
a) Using suitable symbols, work out the mating in I showing the phenotypic and genotypic
proportions of the off springs
(04 marks)
b) From your answer in (a) above explain;
i. How colour in rats is controlled
(01 mark)
ii. The results for the mating I-III above (03
marks)
c) Give two ecological significance of colour in organisms
(02 marks)

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40. (a) What are sex limited characters?

(02 marks)
b) Explain why sex linked characters are more common in males than females
(03 mark)
c) Although the frequency of the gene for abnormal haemoglobin in human population is low,
that gene cannot completely disappear from the population. Explain that observation
(03 marks)
d) What is meant by a pure line? (02
marks)

41. The diagram below shows the nucleus of an animal cell

(a) Name the structures seen inside the nucleus. (01

mark)
(b) Draw the correct number and types of these structures as they would appear;
(i) After mitosis
(ii) After meiosis ,of the nucleus
(c) What’s meant by;
(i) F1 hybrids
(ii) Breeding true
(d) Explain why F1 hybrids will not breed true if they are self-fertilized.
(04 marks)

42. (a) Describe the following genetic abnormalities.

i) Mongolism (04
marks)
ii) Klinefelter’s syndrome. (04
marks)
(b) Explain the formation of new species, from organisms of two different species.
(12 marks)

43. (a) State and explain the law of segregation of Mendel.

(b) Explain how the following are determined in man.
(i) Sickle cell anemia (ii) sex
44. (a) Distinguish between continuous and discontinuous variation.
(05 marks)
(b) In oats, the grain is enclosed by the dried remains of the outer parts of the flower called the
hull. In a cross between two pure breeding varieties of oats, one with black hulled grains and the

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other with white hulled grains, the F1 off spring all had black hulled grains. Allowing the F1
plants to self fertilize gave an F2 with the phenotypes shown below.

Phenotype

Black hulled grains 418

Grey hulled grains 106

White hulled grains 36

The data shows evidence of epistasis

(i) What is meant by the term epistasis? (01
mark)
(ii) How does epistasis differ from mendelian dominance?
(04 marks)
(iii) What genetic ratio is suggested from the figures given?
(01 mark)
(iv) Set out the crosses to show the gametes, genotypes and phenotypes in each generation.
State the phenotypic ratio obtained.
(09 marks)

45. (a) How does meiosis explain Mendel’s first law of inheritance?
(04 marks)
(b) (i) What is meant by the term genetic drift? (02
marks)
(ii) Describe how genetic drift affects the amount of genetic variation within very small
populations.
(c) Explain the cause of genetic variation.
(10 marks)

46. (a) Describe the structure of the tRNA molecule

(b) How does the body make insulin hormone?

47. (a) Describe the contribution of meiosis towards variation

(10 marks)
(b) Compare mitotic prophase and prophase I of meiosis
(10 marks)

48. (a) Describe the process of semi conservative DNA replication

(06 marks)
(b) State the difference between continuous variation and discontinuous variation
(06 marks)
(c) Describe the role of DNA in controlling polypeptide chain synthesis
(10 marks)

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(d) Explain the relationship between the Watson–Crick DNA structure and its function
(10 marks)
49. a) Describe how you would carry out and record the results of a dihybrid cross to obtain F1
and F2 generations in a named organism emphasizing reasons for the procedures
(07 marks)
b) Consider an F1 generation of a dihybrid cross. Explain how the results of F2 are dependent
on the behaviour of chromosomes during meiosis in F1. To what extent can the genotype
interact with the environment to give phenotypes?
(08 marks)
c) A typical 9:3:3:1 phenotype ratio is obtained in F2 of a dihybrid cross. What effect do the
following have on the ratio;
i. Linkage
ii. Incomplete dominance
Explain your answer
(05 mark)
50. (a). How does meiosis explain Mendel’s law of inheritance?
[06 marks]
(b). Describe how abnormal haemoglobin arises in the human population
[09 marks]
(c). Explain the effects of the gene for abnormal haemoglobin in the human population.
[05 marks]
51. (a). Distinguish between continuous and discontinuous variation in a species.
[05 marks]
(b). Hoe does epistasis differ from Mendelian dominance?
[04 marks]
(c). Account for the existence of genetic variation in a population
[11 marks]

52. (a).Explain how sex is determined in mammals. [05

marks]
(b).Describe how mongolism a rises in the human population. [08
marks]
(c).Explain interspecific hybridization. [07
marks]

53. (a) Explain the meaning of each of the following terms with examples:
i. Test cross iv. Pure breeding line
ii. Reciprocal cross v. Sex-linked traits
iii. Pedigree vi. Sex limited traits.
(b. A daughter of a couple where the woman was a carrier for red-green colour blindness and the
husband had red-green colour-blindness got married to a man with normal colour vision.
(i) What are the possible genotypes and phenotypes of the grand children of the original couple?
(ii) What is the probability that any of the grand children will be colour-blind?

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54. a). Describe the mechanism of semi conservative replication. [09
marks]
b) Describe the formation of polypeptide chains in the cytoplasm of the cell.
[11 marks]

55. (a) What is the genetic basis of

(i) hybrid vigour?
(ii) Determination of the ABO blood groups.
(b) In fruit flies the body colour and eye colour genes are sex linked. A Cross between yellow
bodied white- eyed females and grey bodied red-eyed males produced females which were grey
bodied red-eyed. When the F1 females were back crossed with their male parents, the resulting
males comprised the following:
1330 yellow bodied white-eyed flies
26 yellow bodied red eyed flies
35 grey bodied white eyed flies
1297 grey bodied red eyed flies.
(i) Explain with the aid of diagrams the results obtained
(ii) What would be the genotypes and phenotypes of the female offspring from mating F1
females with yellow-bodied white-eyed males?
[Link].M

56. (a) Describe the general structure and chemical composition of a transfer ribonucleic acid (t-
RNA) molecule. (09 Marks)
(b) Describe how the genetic information stored in the DNA is translated into a protein.
(11 Marks)

57. (a) In cats the allele for short hair is dominant to the allele for long hair; the gene involved is
autosomal. Another gene which is sex-linked produces hair colour; its alleles produce black or
white coat colour, and the heterozygote combination produces tortoise-shell colour. If a long-
haired black male is mated with a tortoise-shelled female homozygous for short hair, what kind
of offspring will be produced in Fl? (08 m
(b) Explain the inheritance of the ABO blood groups in man.
(08 marks)
(c) What is the role of mutation in evolution?
(04 marks)
58. (a) Explain how semi conservative DNA replication occurs in an eukaryotic cell.
[12 marks]
(b). Explain the role of DNA in controlling the process of polypeptide synthesis in a cell.

59. (a) Describe the structure of the tRNA molecule. [06

marks]
Page 59 of 66
 (b) What are the characteristics of a genetic code?
[05 marks]
(c) Compare the structure of tRNA and DNA. [09
marks]

60. (a) Describe the structure of nucleic acids.

(06 Marks) (b) Compare the processes of eukaryotic DNA replication and transcription.
(06 marks) (c) Explain how meiosis can result in an
almost infinite genetic variety. (08 marks)

61. In the garden pea, Pisum sativum, the dominant alleles of two unlinked genes, A/a and B/b, are
needed to make the pods tough and inedible. All other genotypes result in soft, edible ‘sugar-
snap’ pea pods.
• Pods with genotypes including the dominant allele A have a thin layer of cells lining the pod.
• Pods with genotypes in which the recessive allele a is homozygous have no thin lining layer.
• Pods with genotypes including the dominant allele B have lignin added to the thin lining layer,
when it is present.
• Pods with genotypes in which the recessive allele b is homozygous do not have added lignin.
(a) Explain the phenotypes of pea pods with the following genotypes: (04
marks)
(i) AAbb
(ii) aaBB [Link].M

(b) Two pea plants of genotypes AAbb and aaBB were interbred to give an F1 generation and
these in turn were interbred to give an F2 generation. Using an appropriate genetic cross,
including gametes, show the genotypes and phenotypes of the F1 and F2 generations. Give the
ratio of phenotypes expected in the F2 generation.
(10 marks)
(c) Gene R for red flower colour can only express itself phenotypically in the presence of gene C
which complements its action to form colour. When two white-flowered plants with genotypes
CCrr and ccRR were crossed, the F1 generation all had red flowers. What would be the
phenotypic ratio of the F2 progeny when the F1 progeny are selfed? (Show your working).
(06 marks)
62. (a) Explain how interaction at one loci and between loci can affect phenotypic variation.
(09 marks)
(b) How does natural selection increase adaptation of a species of the environment?
(11 marks)

63. (a) Distinguish between translation and transcription

(03 marks)
(b) Give an account of the process of translation in a cell (12
marks)

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 (c) What is the significance of translation in a living cell
(03 marks)

64. (a) What is meant by the term linkage as used in inheritance (02
marks)
(b) Briefly explain why identical twins are very important in genetics (02
marks)
(c) In tomatoes, the allele for red fruit, R is dominant to that for yellow fruit, r. The allele
for tall plant, T is dominant to that for short plant, t.
i. A cross was made between two tomato plants and the possible genotypes of
the gamete of the male were: RT, Rt, rT and rt while that of the female were rt.
What are the genotypes and phenotypes of the male and female parents?
(02 marks)
ii. What proportions of the resulting offspring from the genetic cross in (c) (i)
above would you expect to have red fruits?
Use a genetic diagram to explain your answer (05
marks)
(d) In cats the gene controlling the coat colour are carried on the X-chromosomes and are
co-dominant. Female cats are usually homogametic while males are heterogametic.
A black coat male produced a litter consisting of only black males and tortoise shell
female kittens. What is the expected F2 phenotypic ration? Explain your answer
(09 marks) [Link].M

65. (a). What is meant by the term linkage? [03

marks]
(b) A homozygous purple-flowered short stemmed plant was crossed with a homozygous red
flowered, long stemmed plant. The F1 phenotypes had purple flowers and short stems. When
F1 generation was test crossed, the following genotypes were produced;
Phenotype Number of plants
Purple flowered - short stemmed 52
Purple flowered – long stemmed 47
Red flowered – short stemmed 49
Red flowered – long stemmed 45
(i) Using relevant illustrations, account fully for the results
[14 marks]
(ii) Do the results indicate linkage, explain your answer.
[03 marks]

66. Both haemophilia and colour blindness are transmitted in the same way
a) What are the effects of each disease?
(04 marks)
b) Describe the transmission of the diseases.
(08 marks)

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 c) Explain why there are more colourblind individuals than hemophiliacs among the human
population inspite of the similar way of transmission.
(08 marks)

67. (a) Distinguish between codominance and pleiotropy. (04

marks)
(b) In cats, the genes controlling fur colour are carried on the X chromosomes and are
codominant. The homozygous conditions are black fur and ginger fur. The intermediate
condition is tortoise shell. A black female mated with a ginger male. What is the expected
phenotypic ratio in the F2 generation? (10 marks)
(c) Explain why sex-linked traits are most common in males among humans.
(06 marks)

68. In the fruit fly, Drosophila melanogaster, the genes for broad abdomen and long wing are
dominant over the genes for narrow abdomen and vestigial wing. Pure-breeding strains of the
double dominant variety were crossed with a double recessive variety and a test cross was carried
out on the F 1 generation.
(a) Using suitable symbols, work out the expected phenotypic ratio of the test cross of the F 1
generation, if the genes for abdomen width and length of wings are linked.
(07 marks)
(b) It was however observed that when the test cross of the F 1 generation was carried
out, the following results were obtained: [Link].M

Broad abdomen, long wings 380

Narrow abdomen, vestigial wings 396
Broad abdomen, vestigial wings 14
Narrow abdomen, long wings 10
(i) Explain the above results (03 marks)
(ii) Using appropriate genetic crosses show how the above results are obtained . (07
marks)
(iii) Calculate the distance in units between the genes for abdomen width and length
of wing (03 marks)
69. (a). How does meiosis explain Mendel’s law of inheritance?
[06 marks]
(b). Describe how abnormal haemoglobin arises in the human population
[09 marks]
(c).Explain the effects of the gene for abnormal haemoglobin in the human population.
[05 marks]

70. A sex-linked gene controls fur colour in cats. Ginger-coloured fur is controlled by the allele G,
and black-coloured fur is controlled by the allele g. Some cats, exclusively females are
described as tortoiseshell because of having ginger and black patches of fur.

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 (a) Using suitable genetic symbols, workout the genotypes and the ratio of phenotypes expected
in the offspring of the cross between a male cat with genotype XgY and a tortoiseshell female
cat. (06 Mark)
(b) The effect of the G and g alleles is modified by another gene which is not sex-linked but has
two alleles. The allele d changes the ginger colour to cream and the black colour to grey.
The dominant allele D does not modify the effect of G or g.
Using suitable genetic symbols, workout the genotypes and the ratio of phenotypes expected in
the offspring of the cross between a cream-coloured male cat and black female whose genotype
was XgXgDd to produce male kittens of two different colours.
(07 Marks)

(c) (i) With examples from humans, distinguish between sex-linked and sex-limited genes.
(04 Marks)
(ii) Explain why sex-linked features are more common in men than in women.
(03 Marks)

71. In Drosophilia the genes for wing length and for eye colour are sex-linked. Normal wing and red
eye are dominant to miniature wing and white eye.
(a) In a cross between a miniature wing, red-eyed male and a homozygous normal wing, white-
eyed female, explain fully the appearance of;
i. the F1 and
(05 marks) [Link].M

[Link] F2 generations
(05 marks)
(b) crossing a female from the F1 generation above with a miniature wing, white eyed male gave
the following results:

normal wing, white-eyed males and females 35

normal wing, red-eyed males and females 17
miniature wing, white-eyed males and females 18
miniature wing, red-eyed males and females 36
i. Account for appearance and numbers of the phenotypes shown above
(06 marks)
[Link] the cross-over value for the results above
(03 marks)

72. (a) State eight situations where Mendel’s laws would not apply.
(08 marks)
(b) How does meiosis explain Mendel’s first law of inheritance?
(04 marks)

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 (c) (i) In corn plants a dominant allele A inhibits Kernel colour while the recessive allele a
permits colour formation when homozygous. At a different locus, the dominant allele R causes
purple Kernels colour while the homozygous recessive genotype rr causes red Kernels.
i. If plants heterozygous at both loci are crossed, what will be the phonotypic ratio of
the offspring?
(07 marks)
ii. State the type of gene interaction in C(i) (01
mark)
73. (a)(i) Using examples, differentiate between sex-linked and sex-limited characters.
(03 Marks)
(i) Haemophilia is a condition caused by a recessive gene carried on the X-chromosomes.
Determine the chances of producing a normal boy from a carrier mother and a normal father.
(4marks)
(b) Suggest three reasons why female haemophiliacs are very rare.
(03 Marks)

74. (a) What is the significance of the genetic code to the life of an organism?
(08 marks)
(b) Describe how polypeptides are made at the ribosomes in a cell (08
marks)
(c) Describe the evidence to show that DNA is a genetic material (04
marks)
[Link].M

75. (a) Compare mitotic prophase and prophase I of meiosis

(12 marks)
(b) State evidences for DNA as the hereditary material (04
marks)
(c) State the differences between continuous and discontinuous variation
(04 marks)

76. (a) Explain why a single base deletion from one DNA molecule usually cause greater effect than
replacement of one base by another different base
(08 marks)
(b) Describe how sickle-cell anaemia arises in a population
(12 marks)

77. (a) Distinguish between polygenic and pleiotropic traits (02

marks)
b) Give an example of a human trait due to
(02 marks)

(I) polygenic inheritance (ii) Pleiotropic inheritance

b) What is the meaning of the following terms as used in the study of genetics?
(02 marks)

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(i) Segregation

(ii) Independent assortment

c) Two unlinked gene loci interact to give variation in coat colour in certain breeds of cats.
The dominant allele for colour B produces black pigment, the recessive allele b gives a
cinnamon coat. Allele D prevents dilution of coat colour pigment which occurs in animals
homozygous for the recessive allele d. dilution of the black gives a blue coat and dilution of
cinnamon produces fawn.

Work out the expected probability, phenotypes and genotypes of the offspring from a cross
between a heterozygous blue cat and a cinnamon cat.
(04 marks)

EN

[Link].M

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 [Link].M

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