GENETICS

This is the study of heredity and variations.

Heredity - This is the process of inheritance where x-tics are passed on from the p to the
offsprings through reproduction.
Variation - These are differences that exist between organisms of the same species.
Variations
There are 2 types of variation
i. Discontinuous variation
ii. Continuous Variation.
1. Discontinuous variation - These are variations with very few intermediates or opt or none at
all.
- They are purely genetical and are not influenced by the environment
Examples
i. Ability to roll the tongue.
ii. Ability to hitch-hike.
iii. Sex of the individual
iv. The human blood group
v. Presence/Absence of hair on the pine.
vi. Ability to taste certain types of chemical.e PTC or PTU
PTC - phenylthio carbamide
PTU - phenylthiourea
2. Continuous Variation - These are variations with very many options or intermediates
- They are genetical but the expression of the x-tic can be influenced by the environment
where the organism is found.
Examples
i. Body weight and height
ii. Skin pigmentation
iii. Length of internodes in plants
iv. Productivity of plants and animals
v. Intelligence
  Any continuous variation shows a normal distribution curve in a population with very few
individuals at both extremes

Sources of Variations:

Independent assortment of genes/New Recombination of genes during gamete formation

1. Crossing over during gamete formation (prophase I in meiosis)

2. Random fusion of gametes between individuals during sexual reproduction (Random
fertilization)
3. Mutations - These are sudden changes occurring in the genetic constitution of an organism
either affecting the chromosomes or affecting the genes. Mutations are either chromosomal or
gene mutations.
 Mutations are caused by substances in the environment called Mutagenic agents. They
are either chemical or radiations. Examples of chemical include Mustard gas, nitrous
acid, colchicine. Examples of radiations are ultra violet light, X-rays and other radio
active rays.
  Mutations may also be caused by exposure to very high temperatures.
Random mating between organisms

Heredity:
Chromosome, genes and DNA.
Chromosomes.
 These are thread-like structures found in the nucleus of a cell. Every species has a specific
number of chromosomes in the nucleus of somatic cells known as the diploid number (2N).
 Every chromosome is made up of two strands each known as a chromatid and the two are
joined at the centromere. Along the length of the chromosome are genes. Each gene is
responsible of a particular character-trait.
 Genes are chemical compounds known as DNA (Dioxyribonucleic Acid). The position a
gene on the chromosome is known as Gene locus (Loci)

The DNA
- The DNA is made up of two strands joined by weak hydrogen bonds. The DNA is made up of
units called nucleotides which consist of
(i) A phosphate
(ii) Five carbon sugar (Ribose sugar)
(iii) A nitrogenous base which could either be Guanine, cytosine, Adenine or Thyamine.
- The phosphate is joined to the 5-carbon sugar and the nitrogenous base forming a nucleotide.
- There is another type of nucleic acid called RNA (Ribonucleic Acid)

Differences between DNA and RNA

DNA RNA
1. Has less Oxygen atoms. 1. Has more oxygen atoms.
2. Has two strands (Double stranded) 2. It's single stranded.
3. Has nitrogenous bases Guanine, cytosine, 3. Lacks thyamine and instead has Uracil
Adenine & Thyamine 4. Takes part in protein syntheses.
4. Stores genetic information. 5. Sometimes in the nucleus & at times in
5. Restricted to the nucleus. cytoplasm.
6. In the pairing of the nitrogenous bases, in
the DNA Guanine always pairs Cytosine
while Adenine always pairs with
Thymine.

DNA strand
P S P S P S P S P S
A T C C T Weak hydrogen bonds
T A G G A
Complementary DNA strand
P S P S P S P S P S

DNA strand
A T C C T
T A G G A
Complementary DNA strand

DNA Replication.
 Characteristics of the parents are passed on to the offspring due to the ability
of the DNA to replicate producing similar copies.
 The DNA strand unwinds and unzips exposing the bases. Free nucleotides
arrange themselves along the DNA strand. The two new strands move out to form the new
DNA strand (duplicate)

T A

C G

A T

A T
 The order/ sequence of the bases along the length of the DNA is responsible for
the uniqueness or specificity of the DNA.
 In passing x-ties from parents to the offsprings the sequence of the bases on the
parent's DNA is copied during gamete formation and passed on to the offspring
in reproduction (through the use of these gametes).
Protein Synthesis.
 Every 3 bases along the length of the DNA strand is known as a Base triplet/codon.
 Every codon along the DNA strand is a code for a given amino acid. The way
the codons follow one another on the DNA strand determine the order in which.
The amino acids should be synthesized by the ribosomes and joined to one another.

DNA strand

A T A G C C A C T

The sequence of the bases on the DNA strand is copied onto the RNA strand in a process called
Transcription.
The RNA moves out of the nucleus through the nuclear membrane pores to the ribosomes in the
cytoplasm instructing it on the kind of amino acids to be synthesized and the order in which they
should be joined.

DNA strand

A T A G C C A C T

U A U C G G U G A
The RNA strand hence acts as a messenger between the nucleus and the ribosomes and is
therefore known as the messenger RNA (mRNA). RNA strand
If the wrong information is transcribed by the RNA, the ribosomes synthesize the wrong type of
protein which is observed as structural and functional abnormalities in the organism or in their
offsprings.

MUTATION
This is a sudden or spontaneous change in the genetic constitution of an organism.
There are two types of mutations
(i) Chromosomal mutation
 (ii) Gene.

i. Chromosomal mutation - This occurs when the no. of xsome is interfered with or when the
order of arrangement of the genes along the xsome is affected.

Types of chromosomal mutations.

1. Deletion
2. Inversion
3. Duplication
4. Translocation
5. Non-disjunction

1. Deletion - A chromosome is cut and the piece is lost along the length of the xsome.

A
B A
C portion is cut off and lost B
D D
E E

Most deletions are fatal.

2. Duplication - A section of the chromosomes (genes) is repeated or replicates and attached to
the length of the same chromosome.

A A
B B
C C
D D and E replicates D
E E
D
E

Effect: It causes overemphasis of the characteristics controlled by the duplicated genes.

3. Inversion - A chromosome is cut at two points and rotates through 180° and is rejoined to the
same chromosome in an inverted position.

Effect: May bring closer genes which were further apart which may be to the advantage or
disadvantage to the organism.

4. Translocation - A portion of a xsome is cut and then joined to a non-homologous xsome.

Effect: This may be to the advantage or disadvantage depending on the genes involved.

5. Non disjunction - This is the failure of chromosomes to separate during the process of cell
division. This leads to organisms with extra or less no. of chromosomes. e.g In humans if one of
the sex chromosomes fail to separate during gamete formation, then one gamete will have one
extra chromosome (24 chromosomes) while the other will have one less chromosome (22
chromosomed). If the gametes were fertilized by normal gamete (23) then the individuals arising
from these combinations would either have (47 chromosomes) or (45 chromosomes). This
individuals will show certain abnormalities.
Examples of conditions arising from non-disjunction include:-

(i) Down's syndrome (Mongolism) - This is where xsome no. 21 is repeated 3 times (trisomy).

Features of Down's syndrome.

- Slanting eyes / slit eyes.

- Reduced resistance to infection.
- Short body with stubby finger.
- Mental deficiency.
- Thick tongue.

(ii) Klinefelter's syndrome- is where an individual has an extra sex chromosome i.e (XXY) in
males and (XXX) in females which occurs during gamete formation.

Characteristics of Klinefelter's syndrome in males.

✓ Have feminine features e.g Big breast.
✓ Underdeveloped testis.
✓ Reduced size of the penis.
✓ Infertility due to lack of sperm production.
✓ Reduced facial hear.
NB: Females with XXX appear relatively normal in most x-tics.

(iii) Turner's syndrome - is where an individual lacks one sex xsome i.e has XS xsomies.
i.e Females XO and Males OY.
NB: OY zygotes do not develop due to the absence of many vital genes.
Individuals with XO are females and show underdeveloped female x-tics such as
✓ Small uterus.
✓ No breast development.
✓ They are infertile due to lack of ovantes.
(iv) Polyploidy - This is a condition where the nucleus of cell has more than two complete sets of
chromosomies. e.g tetraploid, (4n) or triploid (3n).
Polyploidy is rare in animal but common in plants where it is associated with advantageous.
Characteristics e.g
✓ increased yields.
✓ Resistance to drought, pests and diseases.
✓ Early maturity.
✓ Hybrid vigour.

NB: Polyploidy can be artificially induced by using colchincine which prevents spindle
formation during meiosis thus leading to gametes with double number of chromosomes.

(II) Gene Mutation.

- This involves mutation that interfere with the order of the bases along the DNA strand.
changes in the bases alter the genes and also the amino acid sequence required in the synthesis of
proteins.

Types of Gene mutations.

1. Deletion- Is the removal of a gene portion from the DNA strand (one or more bases are
removed along the DNA strand and never rejoined. This interferes with the codons leading to
the production of a non-functional protein or no protein at all.
2. Inversion- Two or more bases are removed from the length of the DNA strand rotated
through an angle of 180° and then rejoined. This affects one or two codons leading to the
production of a protein with wrong Amino acids. This makes the protein to perform at a less
optimal value.
3. Substitution - A base or more along the DNA strand is removed and replaced with different
one. This leads to the production of a non-effective protein.
4. Insertion - This is the addition of an extra base onto an existing DNA strand. This alters all
the codons after the point insertion resulting with a defective protein or no protein at all.

Effects of genetical mutation

1. Causes genetical disorders such as:
(i) Albinism - is lack of pigmentation of the skin due to a gene that leads to lack of production of
melanin leading to individuals called albinos.
(ii) Sickle cell anaemia - A condition where RBCs have a sickle shaped instead of being round
and biconcave. They do not provide enough SIA for transportation of gases.
(iii) Haemophilia - condition where blood takes long to clot due to absence of certain clotting
factors.
(iv) colour blindness - In ability to distinguish between Red and green colours.
2. Emergence of insects or pests resistant to insecticides or pesticides.
3. Microorganisms resistant to anti-biotics.

NB:
 Mutations may occur in gametic cells during meiosis or occur in somatic cells during mitosis.
 Mutations taking place during meiosis are observed as disorders in the subsequent generation
or offsprings while mutation occurring in somatic cells during mitosis are observed in the
same organism e.g. A plant with leaves having chlorophyll may start producing leaves with
no chlorophyll.
MENDEL'S EXPERIMENTS
An organism that can be used in genetic experiment must have the following characteristics:
(i) Easy to handle.
(ii) Must have short reproductive cycle.
(iii) Give rise to many offsprings.
(iv) Have many varied observable characteristics.
Mendel used garden peas for plants while he used rats for animals in his genetic experiment.

Terms used in Genetics

1. Phenotype - External appearance of an organism; it is always described in word form e.g tall,
dwarf, red, white etc.
2. Genotype - refers to the genetic constitution of an organism. Normally represented using
alphabetical letters.
3. Homozygous - condition where the genes controlling a given x-tic are similar e.g RR, rr, TT,
tt, XX.
4. Heterozygous - condition where the genes controlling a given characteristic in an organism are
dissimilar or contrasting e.g Rr, Tt, Bb, XY.
5. Dominant gene - This is the gene that is expressed in the heterozygous condition. The genes
are represented using capital letters.
6. Recessive gene - The gene not expressed/masked in the heterozygous condition. The genes are
expressed using small letters of the capital letters representing dominant genes.
7. Pure breed - Is an organism that breeds true i.e. it gives rise to offsprings that are similar to
itself only.
NB: Pure breeds are always homozygous.
- Mendel took a pure breeding tall garden pea plant and crossed with a pure breed dwarf garden
pea plant. He observed that seeds obtained from these cross only germinated into tall plants only.
This constituted the first filial generation (F1 generation/progeny). When the F1 plants were
selfed (crossed with each other) the seeds produced germinated into tall plants and dwarf plants
(Second filial generation (F2 generation) in the ratio of 3 tall plants to 1 dwarf plant.
- Mendel repeated similar experiments with x-tics such as the colour of the flowers (red, white),
the texture of the seed coat (smooth, rough) and the colour of seed coat (yellow, green) to come
up with the 1st law of inheritance known as The law of Segregation of genes which states that:
Every characteristic in an organism is controlled by a pair of genes (Allele) but only one gets
into each gamete.
Mendel’s experiment

F1 genotype
F1 phenotype

Selfing the F1
Phenotype

Genotype

Gametes

F2 genotype
F2 phenotype
Phenotypic ration of F2 generation 3 Tall : 1 dwarf
Genotypic ration of F2 generation 1 TT : 2 Tt : 1 tt

* A punnet square can also be used to get the same result.

Example.

1. A true breeding black mouse was crossed with a true breeding brown mouse. The offspring
obtained were all black coloured.

(i) with a reason state the recessive gene for brown colour because it was not expressed for the
offspring.

(ii) Using appropriate letter symbols write down the genotype of the parental black mouse.

Let gene B be for black colour and gene b be for brown colour.

Genotype of Black : BB reason (was a true breed)

(i) If the black parental mouse was mated with a mouse Heterozygous for coat colour, work out
the genotype ration of the offspring.

(ii) State the phenotype of these offsprings.

Answers.

(b) (i) phenotype Black Black

Genotype BB Bb

Gametes B B B b

Genotype BB Bb BB Bb
Phenotype Black Black Black Black

Genotypic ratio
BB Bb
2 : 2
1 : 1

(iii) All are Black.

Example
2. Garden pea with smooth seed coat was crossed with one with wrinkled seed coat. The
offspring had only a smooth seed coat when the offspring were selfed, 7324 seeds were
produced.

(a) With reason state the recessive gene

Gene for wrinkled seed coat; bcz it was masked /not expressed in the offspring.

(b) Using appropriate letter symbols work out the genotype of the F1.
Let S represent gene for smoothness and s represent gene for wrinkled seed coat

Phenotype smooth smooth

Genotype SS ss

Gametes S S s s

Ss Ss Ss Ss
F1 phenotype All smooth

c. Work out the following for the F2 generation.

(a) Genotypic ratio
(b) phenotypic ratio.

C(i) No. of seed coat with wrinkled seed coat

(ii) No. of seed coat with smooth seed coat.

Answer (c)

Phenotype smooth smooth

Genotype Ss ss

Gametes S S S s

Fusion

F2 generation Ss Ss Ss ss

c) Genotypic ratio SS : Ss : ss
ratio 1 :2 :1
d) Phenotypic ratio Smooth : wrinkled
3 :1

i) Wrinkled = 1/4 x 7328 = 1832 seeds

ii) Smooth = 3/4 x 7328 = 5496 seeds

TEST CROSS / BACK CROSS

Definition:-

A cross performed between an organism whose genotype is known with an organism which is
recessive for the same characteristics.

Importance of back cross.

It is used to determine whether the genotype of an organism showing a dominant x-tic is

homozygous or heterozygous.

If the organism is homozygous all the offspring demonstrate the dominant x-tic only. If
heterozygous the offspring demonstrate the dominant & recessive x-tic in the ratio of 1:1.

Tall garden pea - can be homozygous or heterozygous (TT or Tt)

Dwarf garden pea - can only be homozygous (tt)

To determine the genotype of the Tall garden pea; a cross is performed with the dwarf plant of
homozygous.

Phenotype Tall dwarf

Genotype TT tt

Gametes T T t t

Tt Tt Tt Tt

All demonstrate the dominant Tall characteristic

If heterozygous;

Phenotype Tall dwarf

Genotype Tt tt

Gametes T t t t

Fusion

Tt Tt tt tt

Tall dwarf
2 : 2
1 : 1

Both demonstrate the recessive characteristic and dominant in the ratio of 1 : 1.

INCOMPLETE DOMINANCE / PARTIAL DOMINANCE / CO-DOMINANCE

Qnz: In the 4 o'clock plant (Mirabilis jalapa) when a pure breeding red flowered plant is crossed
with a pure breeding white flowered plant the F1 generation were all pink flowered. When the F1
were selfed the F2 generation had red, pink and white flowered plants in the ratio 1 : 2 : 1
respectively. Show how the ratio is arrived at.

Solution:
The gene for Red colour and for the white colour are Partially dominant Both genes are
represented using capital letters.
Let the gene for red colour be R.
Let the gen for white colour be W.

Phenotype Red White

Genotype RR WW

Gametes R R W W

Fusion

F1 genotype RW RW RW RW

Phenotype Pink
Selfing the F1
Phenotype Pink Pink
Genotype RW RW

Gametes R W R W

Fusion

F2 genotype RR RW RW WW

F2 Phenotype Red Pink white

Genotypic ratio = 1RR : 2RW : 1WW

Phenotypic ratio = 1 Red : 2 pink : 1 white

On 2'. When a pure breeding black mouse was crossed with a pure breeding white mouse, the F1
generation had black and white patches. When the F1 were selfed the F2 had mice with black
colour, black and white patches and others were white in a ratio of 1:2:1 respectively. Show how
the ratio is arrived at.

Phenotype Black White

Genotype BB WW

Gametes B B W W

Fusion

F2 genotype BW BW BW BW
Selfing the F1

Phenotype Black White

Genotype BB WW

Gametes B W B W

Fusion

F2 genotype BB BW BW WW
Phenotype Black black white whi te

Genotypic ratio 1 BB: 2 Bw: 1 Ww

Phenotypic ratio 1 Black: 2 Bw: 1 white

The ratio 3:1 is characteristic of the F2 generation where one gene is completely dominant over
the other. The 3 represents the dominant x-tic while the 1 is for the recessive characteristic.

The ration 1:2:1 is the characteristic of the F2 generation in case of co-dominant genes or genes
that are partially dominant.

In case of partial dominance, none of the two genes can completely mask the other and thereby
organisms that are heterozygous express an intermediate x-tic.

In co/equal dominance, each of the two genes express itself to a given extent eg. A pure breeding
white crossed with a pure breeding Black giving rise to organisms with black and white patches.

In both cases (co-dominance & partial dominance) genes are represented using capital letters.

Inheritance of Blood Groups.

- Human blood groups are controlled by 3 genes (multiple allele) i.e gene A responsible for
production of antigen A's gene B responsible for production of antigen B and gene O that leads
to lack of formation of antigens.
- Gene A and B are dominant over O. gene O is arecessive gene.
- Gene A and B are partially dominant.
 Blood group Possible genotype
|
A AA,AO
B BB,BO
AB AB
O OO

Example 1

A man blood group O is married to a woman heterozygous for blood group B: what are the likely
blood groups of their children.

Phenotype Blood group O Blood group B

Genotype OO BO

Gametes O O B O

Fusion

Offspring BO OO BO OO
genotype
Phenotype B O B O

 Likely blood groups of their children are blood group B and blood group O.

Example 2

A man homozygous for blood group A marries a woman homozygous for blood group B. What
are the chances of them giving rise to a child of either blood group A or B.

Phenotype Blood group A Blood group B

Genotype AA BB

Gametes A A B B

Fusion

Genotype AB AB AB AB
Phenotype AB AB AB AB
 All the children are blood group AB and the chance are Zero.

Genotype: AB, AB, AB, AB

Phenotype: AB, AB, AB, AB

Example 3

Njoroge is married to Grace. Njoroge is heterozygous for blood group A while Grace is
homozygous blood group B. Grace bears a child of blood group O. Njoroge claims the child is
not his and files for divorce on infidelity grounds. Is he justified in his claim? Show your
working.

Phenotype Blood group A Blood group B

Genotype AO BB

Gametes A O B B

Fusion

Genotype AB AB BO BO
Phenotype AB AB B B

Njoroge is justified bcx the child has either Blood group AB and B.

SEX DETERMINATION IN MAN

- chromosomes containing genes that determine the sex of an individual are called
sex chromosomes. There are 2 types of sex chromosomes in man i.e X and Y chromosomes
- Females have 2 X chromosomes/homogametic/ XX while males have an
X and Y chromosomes/heterogametic/ XY.
Genotype phenotype
AB Blood group AB.

EXAMPLE 2.
A man blood group O is married to a woman heterozygous for blood group B. What are likely
blood groups of their children?

SOL.

Phenotype Blood group O Blood group BO

Genotype OO BO

Gametes O O B O

Fusion

F1 generation BO OO BO OO
Blood group B Blood group Blood group Blood group
O B O

Likely blood groups of their children are B and O.

Example 3.
A man homozygous for BGA marries a woman homozygous for B6. What are chances of giving
rise to a child either BGA or B?

SOL.

Phenotype Blood group A blood group B

Genotype AA X BB

Gmaetes A A B B

A A B B

F1 generation A,B A,B A,B A,B

Blood group AB AB AB AB
- The chances are zero.
SOL. OF EXAMPLE 1.

Phenotype Blood group A Blood group B

Genotype AA X BB

Gametes A O B B

A O B B

F1 generation A,B A,B B,O B,O

Blood group AB AB B B

- Njoroge is justified because the child has neither blood group AB or BB.

- Also the child does not belong to Grace because it is not blood group BB.

Phenotype Blood group A Blood group B

Genotype AA X BB

Gametes O O A B

O O A B

F1 genotype A,O B,O A,O B,O

B.G B.G B.G B.G
Generation phenotype A B A B

- The parent is AB and O justified because their blood group is AB and O white the baby is
blood group O hence not theirs.
-

SEX AND SEX DETERMINATION LINKAGE.

- chromosomes containing genes that determine the sex of an individual are called sex-
chromosomes.
- The are two types of sex chromosome i.e X and Y chromosomes.
- Women have two X chromosomes and male have X and Y chromosome.
Genotype Genotype
Female male
XX XY

In meiosis, the chromosomes are separated and move into different gametes.

Phenotype man woman

Genotype XY XX

Gametes X Y X X

Fusion

F1 generation Genotype XX XX XY XY
Phenotype Girl Girl Boy Boy

Sex of the child is determined by the man because the sperm that fertilizes the egg will determine
the sex of the child.

e.g.

Man Woman

X Y X

XX XY
Baby Girl Baby boy

SEX LINKAGE.

Linked gene - These are genes located on the same chromosome and hence cannot be separated
therefore during gamete formation they move into the same gamete.

Sex Linked genes

These are genes located on the sex chromosomes i.e either the X or Y chromosome.

Genes Linked to the X chromosome.

1. Gene for haemophilia.
2. Gene for colour blindness (inability to distinguish between green and red).

This conditions can be expressed in both male and female because they have X chromosome.

Genes Linked to the Y chromosome.

1. Hairy Pinna and nose.
2. Muscular wasting (DMD).
3. Premature balding.

These conditions are only expressed in men as they are the only ones with Y chromosome.

All these genes are recessive genes then the population showing this condition is very small.

Inheritance of sex Linked characteristics.

Case 1.

A man with normal blood clotting is married to a woman heterozygous for blood clothing what
are the genotypes and phenotypes of their children?

Solution.

Phenotype Normal Man Normal Woman

Genotype XHY XHXH (Carrier)

Gametes XH Y XH Xh

F1 genotype XHXH XHXh XHY XhY

Phenotype Normal Girl Normal Girl Normal Boy Haemophilia Boy

X Carrier - a woman with heterozygous x-tic e.g blood clotting le (XHXh).

X Women only are carriers.

X The chances of a woman becoming haemophilic is 1/3 or 33% i.e XHXH, XHXh, XhXh while the
chance of man to be haemophilic is 1/2 or 50% i.e XHY, XhY and the same applies to
colourblindness.

X If a boy is haemophilic or colour blind his mother is carrying a recessive gene

X If a girl is haemophilic or colourblind automatically the father is haemophilic or colourblind.

A haemophilic man is married to a carrier woman. What is the probability that any of their
children is haemophilic.

(i) Any boy child is haemophilic.

(ii) Any girl child is haemophilic.

Solution .
Phenotype Normal Man Normal Woman

Genotype XHY XHXH (Carrier)

Gametes Xh Y XH Xh

Genotype XHXh XhXh XHY XhY

F1 (offspring) Phenotype Normal Hoemophilia Normal Boy Haemophilia Boy
Carrier woman girl

(i) 1/4 = 1/2 or 50%.

(ii) 1/2 = 50%.

(iii) 1/2 = 50%.

CASE 1.

In humans, a gene responsible for the clotting of blood is located on the X-chromosome. Persons
who only have the recessive genes are haemophiliacs. The figure below shows the pedigree of a
certain family. Study the figure
1 below and answer the questions
2 that follow.

3 4 5 6 7 8
 XhY XhY XHY XHY HHXh XHY

XhY

Key
pedigree

haemophilic male Non haemophilic male

Non haemophilic female shows a mating

shows children of the same parent.

(a) Indicate all the genotype of all individuals shown in pedigree.

(b) What is the effect of this mutant gene.

CASE 2
A couple with normal colour vision had a colour blind son Ali, and two daughter Edith and
grace. Ali had a daughter with normal colour vision. Edith had two sons, one colour blind and
the other had normal vision. What is the probable genotypes of the parents, their children and
their grandchildren.
Explain how you arrived at your conclusions. Use a pedigree diagram to represent these
genotypes.

Solution

Case 1.

a) XHY XHXh
 XhY XhY XHY XHY XHXh XHY

XhY

(b) The blood would take long to clot hence excessive bleeding.

Case 1
Normal Normal

XCXc XCY
c/blind XY
Ali XCY Edith XCY Grace XCX
XCX

Normal colour blind

XCXc

N/B

Albinism
sickle-cell anaemia Not Sex-linked.

Albinism
- Caused by a recessive gene - cause the lack of formation of black pigment (melanin).
- melanin is produced by melanocytes
- caused by gene-mutation i.e alteration in DNA sequence

effect
- White hair, pale skin, white eyes (iris).

Example
An albino man married a woman heterozygous for skin pigmentation. What are the chances their
first child will be albino.
Solution

Phenotype Albino Normal

Genotype aa x Aa

Gametes a a A a

Fussion

F1 Generation Aa aa Aa aa

Phenotype Normal Anbino Normal Albino

P(Albino) = 2/4 or 1/2 or 50%

Sickle cell anaemia

- This is where red blood cells have a sickle shape instead of round and biconcave.
Effect
- Does not enough surface area for transportation of O2.
- Individuals experience shortness in breath
- Sickle cell anaemia is caused by a gene called haemoglobin (S).

- Gene responsible for normal R.B.C is haemoglobin A.

HbA HbA - 100% of RBC are normal.

HbA HbS - (60% of RBC normal, 40% RBC sickle shaped.

(Sickle-cell trait)

HbS HbS - (100% of RBC sickle shaped.)

(Sickle-cell anaemia.)

Anaemia can be caused by:

(i) Lack of enough RBC
(ii) Lack of enough blood.

Sickle-cell trait

Example
A man homozygous for the shape of RBC is married to a woman who has sickle-cell trait. What
are the probability of giving rise to a child with sickle cell anaemia?

Solution

Phenotype Normal Sickle-Cell Trait

Genotype HbA HbA X HbA HbS

Gametes HbA HbA HbA HbS

Fussion

F1 Genotype HbA HbA HbA HbS HbA HbA HbA HbS

Phenotype Normal Sickle-Cell Trait Normal Sickle-Cell Trait

P(Sickle-cell anaemia) = 0
A man with sickle cell trait is married to a woman with the same condition. Determine the
conditions of their children.

Solution

Phenotype Normal Sickle-Cell Trait

Genotype HbA HbA X HbA HbS

Gametes HbA HbS HbA HbS

Fussion

F1 Genotype HbA HbA HbA HbS HbS HbA HbS HbS

Phenotype Normal Sickle-Cell Trait Sickle-Cell Anemia

Application of Genetics

1. Genetic counselling

2. Plant and Animal Breeding

3. Genetic Engineering

4. Blood grouping

5. Settling of disputes involving parentage

6. Solving criminal cases

7. Pollution and the Environment

8. Gene therapy
1. Plant and animal breeding

Artificial Selection

- Knowledge of Genetics is used by plant and animal breeders to breed only organisms with
desirable qualities through controlled breeding.

- Artificial selection is either done through inbreeding or crossbreeding.

- Inbreeding increases the chances of harmful genes expressing themselves hence cross-breeding
is preferred.

- Cross-breeding involves two genetically dissimilar lines expressed in a species and results in
beneficial x-fix not shown either parents, a principle known as HYBRID VIGOR.

- Hybrid vigour is a condition where the offsprings have x-fix better than either of the parent.

The beneficial x-fix observed include early maturity, high yield, resistance to disease, increased
length of production, ease in harvesting, adaptation to local condition e.g. rainfall, temp, soil etc.

2. Genetic Counselling

- This is particularly on inheritable diseases.

- Information and advice is given on genetically inheritable diseases e.g. sickle-cell anaemia,
albinism, haemophilia and colourblindness.

- They advice couples on the possibility of giving birth to a child with same abnormality.

3. Settling Legal disputes involving parentage and crime, blood grouping.

- Knowledge of blood grouping find great application in blood transfusion to ensure

compatibility in term of Antigen and Antibodies and the Rhesus factor.

- Matching blood group of a baby and that of the parents have been used in solving parentage.

- Matching of the DNA of the baby and that of the matchings shown where the DNA buse
sequence match perfectly with those of the parents in a Process called DNA fingerprinting. This
process is also used to identify by comparing the DNA of the suspect with that of cells found in
bloodstains or hairs recovered from the scene of crime.

(b) Genetic Engineering.

- This deals with identification of a desirable gene, alteration isolation and transferring it from
one living organism to another.
- Genetically modified organisms with higher production in crops and animals have been
developed through this.
- Bacteria and fungi have also been used to synthesize some life saving chemicals e.g insulin by
inserting the genetic code for insulin in the bacteria and fungi.
- Genetic engineering has therefore been used in
(1) Farming/Agriculture
(2) Production of hormones by genetically modified organism Medicine
(3) Production of vaccines e.g Hepatitis B

4. Gene therapy where a faulty gene is replaced with a normal one to correct the disorder.

5. Controlling pollution in the environment where genetically modified pseudomonas bacteria is

used to decompose hydrocarbons in petroleum to control pollution due to oil spillage.

6. Cloning - where a group of cells develop from a single individual cell with fertilization which
is a form of asexual production.

Effect of Gene mutations.

2. It results to disease or disorder.

E.g (i) Albinism - This is condition where the mole- cules failing to produce melanin.

(ii) Sickle cell anaemia. - This is where the red blood cell are sickle shape instead of round and
biconcave.

(iii) Haemophilia - This is where blood takes long to clot due to absence of certain clotting
factors.

(iv) Colour blindness - This is inability to distinguish b/n red and green colour.

* Mutations may occur in gametic cell or during meiosis, or occur in somatic cell or during
mitosis.

* Mutations are taking place during meiosis are observed in the offspring while the mutations
occurring in mitosis are observed in the same organism e.g a plant with leaves having
chlorophyll and some without chlorophyll.

MENDEL'S EXPERIMENTS.

i. Pure breed (expressed)

ii. Dominant (masked/hidden)
iii. Recessive
iv. Homozygons
v. Heterozygols
 First filial generation (F1)
XX (offspring)

Second filial generation (F2)

F1 = First filial generation.

F2 = Second filial generation.

* An organism that can be used in genetic experiment must have the following x-rics.

(i) Easy to handle.

(ii) Short reproductive cycle.

(iii) Give rise to many offspring.

(iv) Have varied x-rics e.g height, colour of flowers

* Mendel used used garden peas for plants and rats and mice for animals in genetic experiment.

Law of inheritance (Law of genetics)

Every characteristic in a living organism is controlled by a pair of contrasting traits (genes) but
only one gets into each gamete.

* Homozygous - (condition where the genes controlling a trait is similar. (eg RR or rr)

* Heterozygous - eg Rr

* Phenotype - external appearance of organism - Always described in word form.

* Genotype - refers to genetic constitution of organism

 * Pure breed - is an organism that breeds true and gives similar offsprings x it doesn't have
contrasting genes. * Pure breeds are always homozygous.

* Dominant gene - is the gene expressed in heterozygous condition

* Recessive gene - is the gene masked/hidden in heterozygous condition

Example

Mendel's experiment

Pure breed (tall) (TT) – homozygous Pure breed (dwarf) (tt) - homozygous

Tall plants (Tt) - Heterozygous

(i) Let the gene for tall be T

(ii) Let the gene for dwarf be t

i. Phenotype tall dwarf.

ii. Genotype TT x tt
iii. Gametes T T t t
iv. Fussion

Punnet square
T T

t Tt (tall) Tt (tall)

t Tt (tall) Tt (tall)
 Or fussion lines

T T t t

F1 Generation Tt Tt Tt Tt
(they are genotype)
Phynotype Tall Tall Tall Tall
Crossing pollination the F1 (selfing the F1)
- Selfing F1 – mean cross pollinating the F1 generation themselves
i. Phenotype tall tall.
ii. Genotype TT x Tt
iii. Gametes T T T t

v. Fussion

i. Fussion line

T t T t

F1 Generation Tt Tt Tt tt
Phynotype Tall Tall Tall Dwarf
ii. Punnet square
T t

t Tt (tall) Tt (tall)

t Tt (tall) tt (dwarf)
Phenotypes of F2 generation = Tall tall tall dwarf
Phenotypic ration = 3 Tall : 1 dwarf
Genotype ratio = 1 TT : 2Tt : 1 tt

Example

True breeding black True breeding brown

Black coloured

Questions

1. The recessive gene was the Brown because it wasn't expressed in the offspring.
2. Using B for dominant gene
b for recessive gene
i.e B represent black
b represent brow.
Q1: Write down genotype of the black Parental
breeding one is = BB because it must be homozygous
because it is Pure breed and must have two genes.
Q2: If the black parental mouse is mated with a mouse heterozygous for coat colour.

i.e Black Parental mouse mouse heterozygous

i.e (Genotypes) BB X Bb

Work out the genotypic ratio for their offspring

Solution
Genotypes = BB X Bb

Gametes B B B b
Fussion
 Fussion line

B B B b

F1 generation BB Bb BB Bb
Black Black Black Black

Genotypic ratio = 2BB : 2Bb

3 = Phenotype of the offspring.

= All are black.

Determination of unknown
Genotype

Dominant gene can be expressed in both heterozygous and homozygous condition e.g
TT, Tt.
Recessive gene can be expressed in homozygous condition only e.g
tt.

TEST CROSS / BACK CROSS

A cross performed between an organism whose phenotype is unknown with an organism which
is homozygous recessive for the same characteristic.

We use to determine whether the organism is homozygous or heterozygous.

Case 1
If homozygous
Phenotype tall dwarf.
Genotype TT x tt
Gametes T T t t

T T T t

Tt Tt Tt Tt
Tall tall tall tall
If the organism was homozygous. The offspring will all have the dominant characteristics.

Case 2
If heterozygous
Phenotype tall dwarf.
Genotype Tt x tt
Gametes T t t t

Fussion T t t t

Tt Tt tt tt
Tall tall dwarf dwarf
If heterozygous the offspring demonstrate the dominant and recessive characteristic in the ratio
1:1

i.e. tall : dwarf

2 : 2
1 : 1

Example
Black colour– dorminant (B)
White colour – recessive (b)

Black white

½ black ½ white

Question
Genotype of black parent
Solution
Bb (By use of test/black cross) – because the ratio of offspring is 1:1

i.e B b b b

Bb Bb bb bb

2:2
1:1
½:½
Example
Smooth seed coat wrinkled seed coat

All F1 (smooth seed coat)

It tell us:
(i) The gene of wrinkled is recessive.
(ii) The gene of the smooth must be dominant.
(iii) The gene of smooth coat is homozygous because all the F1 offspring have its characteristic
i.e smooth.

Note: In case of incomplete/co-dominance

a. Both genes are dominant.
b. Both genes are assigned different capital letters.

- In incomplete/partial dominance an offspring with a character in between the two will be

produced
e.g. if black & white are crossed grey is produced.

- In co-dominance/equal dominance, an offspring with the character of both genes will be

produced.

CASE 1 INCOMPLETE/PARTIAL DOMINANCE

When a pure breeding red flowered mirabilis plant is crossed with a pure breeding white
flowered plant the F1 generation were all pink flowered. When the F1 were selfed the F2
generation had red, pink and white flowered plants in the ratios 1:2:1 respectively. Show how the
ratio is arrived.

Solution.
This is partial/incomplete dominance

Let gene for red be = R

Let gene for white be = W

Phenotype = Red white

Genotype = RR x WW
Gametes = (R) (R) (W) (W)

Fussion R R W W

F1 generation genotype RW RW RW RW
Selfing F1 phenotype Pink Pink Pink Pink

Phenotype = Pink Pink

Genotype = RW x RW
Gametes = (R) (W) (R) (W)

Fusion:
Fussion R W R W

F2 generation RR RW RW WW
Red pink pink white

Phenotypic ratio = 1red:2pink:1white

Genotypic ratio = 1RR:2RW:1WW

CASE II. CO-DOMINANCE/EQUAL DOMINANCE

When a pure breeding black mouse was crossed with a pure breeding white mouse the F1
generation had a black and white patches. When the F1 were selfed, the F2 had mice with black
colour, black and white patches and others white and in a ratio 1:2:1. Show how the ratio is
arrived at.

Sol.
Let the gene for black be = B
Let the gene for white be = W

Phenotypes Black White

Genotypes BB X WW
Gametes (B) (B) (W) (W)

Fusion B B W W

F1 generation genotype BW BW BW BW
Phenotype black & black & black & black &
white white white white
Patches patches patches patches

Selfing the F1

Phenotypes Black & white patches Black & white patches

Genotype BW X BW
Gametes B W B W

F2 generation BB BW BW BW

Genotypes = BB BW BW BW
Phenotypes Black Black & Black & Black &
white patches white patches white patches

Phenotypic ratio = 1 black : 2 black & white : 1 white

Incomplete dominance/partial dominance
Equal dominance/co-dominance

EXAMPLE 1. INHERITANCE OF BLOOD GROUPS.

Njoroge is married to Grace. Njoroge is heterozygous for blood group A while Grace is
homozygous for blood group B. Grace bears a child of blood group O. Njoroge claims the child
is not his aand files for divorce on grounds on infidelity. Is he justified in his claim?

Note
* Allele - a pair of contrasting genes e.g. Tt, tt, Tt etc.
* Characteristics can be controlled by more than two genes
e.g. i) Human blood group,
ii) shape of R.B.C.

Blood grouping
Types of protein (antigen) Blood group Antibodies
A A A
B A A
AB AB O
NONE O AB

* Human blood group is controlled by three genes.

i.e
Gene A
Gene B
Gene O
* Gene A and B are dominant over O.
* Gene A and B are co-dominant i.e both of them will be expressed.

Example Genotype Phenotype

Gene A → AA AO → Blood Group A
Gene B → BB BO → Blood Group B
Gene O → OO → Blood Group O