Presented by Mr.

Kosgei
 Introduction
 Genetics is a branch of Biology that deals with study of inheritance
/ heredity and variation.
 Heredity is transfer of characteristics / traits from parents to
offspring's e.g size ,height/length colour/type shape yield

 Gregor Mendel
 An Austrian Monk, made the first scientific advances in genetics.
He showed that characteristics do not blend but are passed from
parents to offsprings as discrete units / factors called genes

 Genes are carried on chromosomes which are regarded as

hereditary vehicles

 Because of Mendel’s pioneering work in genetics, he is regarded as

the father of genetics.

 Importance of genetics
 Helps to explain ( variations)differences between organisms of
the same species

 It explains the transmission of characters from generation to

generation

 Improvement in livestock

 Improvement in crops

 Can be used to treat some difficult diseases

 Concepts of Genetics
 Variation
 Variations are the observable differences that
arise among living organisms of a given species.

 Types of variations among plants and animals,
namely continuous and discontinuous variation.

a) Discontinuous variation
 Are variations in which individuals of a given
species exhibit definite distinct differences with
few or no intermediate forms among them (clear
cut difference)
Examples of Discontinuous variations in
humans
Include the following:
 Tongue rolling – rollers/non rollers
 ABO blood groups – A, B, AB and O blood groups
 Gender/sex – male/female
 Type of ear lobes – free/attached
 Long hair in the nose and pinna – present/absent
 Cranium – broad/narrow
 Widows peak – present/absent
 PTC tasters - tasters/ non tasters
Examples of Discontinuous variations in
plants
Include the following:
 Height – tall/dwarf varieties in garden peas
 Flower colour – white/purple in garden peas
 Pod texture - smooth/wrinkled in garden peas
 Seed shape – round/wrinkled in garden peas
 Position of flower – axial/terminal in garden peas

Note: Traits exhibiting discontinuous variation are controlled by one

or two major genes. The physical expression (phenotype) of these
genes is not, in any way, influenced by the environmental conditions.
 b) Continuous variation
They are variations in which individuals show a
wide range of intermediate qualities for the same
trait (there is no clear cut difference)

Examples of continuous variation in animals Include:

 Height – shortest and tallest with
intermediate forms
 Skin colour/pigmentation
 Finger print types
 Body weight
 Breast size
Finger print
Examples of continuous variation in
plants

Include:
Length of internodes
Number of branches
Number and size of leaves/fruits on a
tree
Size of thorns e.t.c
 Causes of variation
 1. Gamete formation
a) Independent assortment
 It is usually random and in effect gives many chromosome combinations during gamete
formation; this leads to new gene combinations in offsprings that are different from
those of the parents. This process is called recombination.
b) Crossing over
 When homologous chromosomes form chiasma followed by exchange of important
genetic materials, variations occur. These take place in prophase I of meiosis.

 2. During fertilization
 Fusion of male and female gametes is normally random causing recombination of genes.

 3. Mutations
 These are spontaneous/sudden changes that occur in the genetic make up of an
organism.
 It is the main source of variations.
 Mutations are sources of discontinuous variations.

 4. Environment
 It shapes the expression of a gene i.e. it either suppresses or enhances the expression.

 Importance of variations
Suppresses the effect of unfavorable
genes

Produces advantageous qualities in

organisms making them more adapted to
their environment

Increases the survival chances of a species

in the ever changing environment
Chromosomes, Genes and DNA
Review of the structure and functions of chromosomes
 Chromosomes are threadlike structures found
within the nucleus of a cell, which contain the
genetic materials of an organism.

 Each chromosome is made up of two parallel

strands called chromatids.

 Each chromatid pair is connected at one point by

a centromere.
Chromosome and DNA
 In somatic/body cells, chromosomes occur in pairs
with each pair having a characteristic length.
 The member of each pair is called a homologous
chromosome since the chromosomes are identical
in appearance though they may differ in genetic
composition.
 In sexual reproduction each parent contributes one
of the chromosomes of a homologous pair.

Note: Chromosomes are present in the nucleus all

the time but only become visible during cell division.
Homologous chromosomes
There are a definite number of chromosomes
for every species.

Number of chromosomes
Organism Somatic cell Gametes
(Diploid number - 2n) (haploid - n)
Sheep (Ovis auries) 56 28
Fruit fly 8 4
(Drosophila melanogaster)
Maize (Zea mays) 20 10
Cattle (Bos Taurus) 60 30
Wheat (Triticum vulgare) 14 7
Tobacco(Nicotiana tabacum) 12 6
Human being(Homo sapiens) 46 23
 Genes and DNA
 Genes are the hereditary factors / units / codes that
are transmitted from parents to off springs.

 A gene is that portion of a DNA which codes for a
protein.

 One DNA molecule contains several genes e.g. 30,000

in humans.

 Genes occupy definite positions on the chromosomes

called gene loci (singular- gene locus)
 DNA and RNA
 DNA and RNA are called nucleic acids because
they are found in the nucleus of cells.

 DNA stands for Deoxyribonucleic acid while RNA

stands for Ribonucleic acid

 DNA is only found in the nucleus and contains

genes

 RNA is found both in the nucleus and cytoplasm of

a cell and is significant during protein synthesis.
 Structure of Nucleic acids
 Nucleic acids are made up of many units called nucleotides joined
together.

 Each nucleotide is composed of a Ribose sugar, Phosphate group, and a

Nitrogen containing base.

 There are two types of Nitrogen bases

 Pyrimidine’s (C.T.U)
 Purines ( G A)

 Pyrimidine's are three namely
 Thymine (T)
 Cytosine (C)
 Uracil (U)

 Purines are two namely
 Guanine – G
 Adenine – A
 DNA and RNA differ in types of Pyrimidine's i.e.
 Both have Cytosine ( C) however DNA in addition
has Thymine ( T) whereas RNA has uracil (U)

 Adenine pairs with Thymine ( A-T)

 Guanine pairs with Cytosine ( G-C)

 On the DNA strand, adenine pairs with thymine

while guanine pairs with cytosine; i.e. A-T and G-
C respectively.
 Illustration
Note: Uracil does not form part of the DNA but of RNA while thymine does
not form part of RNA but of DNA. Both nucleic acids contain cytosine; uracil
therefore replaces thymine on the RNA strand.

Cytosine Adenine Uracil

Thymine Guanine

DNA strand RNA strand

DNA strand (double helix)
 Differences between DNA and RNA
DNA RNA
Has a deoxyribose Has a ribose sugar
sugar
Bases are A,T,G and Bases are A,U,G and
C C
Found in the nucleus Both in the nucleus
and cytoplasm
Double stranded Single stranded
Stable Less stable
 Role of DNA

 Stores genetic information in a coded form

 Enables transfer of genetic information

unchanged to daughter cells through
replication.

 Translates the genetic information into

characteristics through protein synthesis.
 Terminologies used in Genetics
 Genetics – this refers to the study of inheritance of characteristics
which are passed from parents to offspring during reproduction / a branch
of biology which studies variations and how they are inherited
 Heredity - these is the passing on the physical and mental
characteristics from parents to the off spring
 variations - these are observable differences in organisms of the same
species
 Gene - these are factors of inheritance
 Genomes – total set of genes in a cell (30,000)
 Homologous chromosomes – pair of chromosomes
 Genotype – genetic makeup of an organism with reference to traits. Usually
expressed by a symbol e.g. Tall as T short t . Combination of alleles that
brings about the appearance of an organism.
 Phenotype – observed character /appearance i.e. The expression of the
genes in the structure of the organism’s e.g. Red flowers (expressed in
words). In some cases the phenotype is the product of the genotype and the
environment
Continuation……
 Allelomorphs (allelic pairs) AA, aa, aa, BB, bb, bb. A pair of genes that control a
pair of contrasting characters e.g. Similar e.g. Tall (TT) vs. Short (tt) TT x tt
 Homozygous –a state where alleles in an individual are similar e.g. Tall (TT) or short
(tt)
 Heterozygous – a state where alleles are dissimilar i.e. Each of the two genes
responsible for a pair of contrasting characters are present e.g. (Tt)
 Hybrid – is the offspring resulting from crossing of two individuals with contrasting
characteristics
 Locus – specific position occupied by a gene on a chromosome
 Hybrid vigour /heterosis – this is where a hybrid offspring develops the best
characteristics from both parents i.e. It is stronger or healthier or yields more than
either parent
 In breeding experiments the first generation produced when two varieties are
crossed is known as F1 First filial generation (from P1mating)
 F2 second filial generation – substrate generation produced by breeding together
F1generation (P2 mating)
 Pure line – line of organism produced by individuals with similar genetic back ground
or following several generation of selfing
 Breeding – art and science of genetic improvement of an organism. Aim is to improve
traits of a species that contribute its economic value
 Character or traits – ( visible phenotypic properties) is a feature we choose to
study e.g. Flower colour in plants, height in human skin etc.

 Mendel’s work
Mendel used – garden pea plants (Pisum sativum) to study heredity in
plants and fruit flies (Drosophila melanogaster) to study heredity in
animals

He carried out various breeding experiments and observed the variations

on different characteristics of the garden pea.

These characteristics included:

 Height of stems – tall / dwarf
 Shape of seed – round / wrinkled
 Texture of pods – smooth / wrinkled
 Color of pods – yellow / green
 Color of seeds – yellow / green
 Position of flower – axial / terminal
 Flower color – purple / white

Reasons why Mendel used garden pea plants and
fruit flies (Drosophila melanogaster) in his
experiments
a) Pea plants:
 They produce many seeds hence many offsprings

 Have a short generation gap – matured faster

 They normally self-pollinate and can be

manipulated by cross-pollination

 They have many clear contrasting

characteristics / traits hence convenient to
study
Continuation……

b) Fruit flies
 Drosophila melanogaster also matures faster
hence data for several generations could be
obtained within a short time

 Drosophila melanogaster also has many clear

contrasting physical characteristics long vs
vestigial wings,
 Reasons for Mendel’s success

 He used favourable materials i.e. garden pea and

Drosophila melanogaster

 The pea plant had a variety of clear contrasting

characteristics

 He focused on particular trait rather than wholesome

heredity

 He kept accurate data on all his experiments and used

the data to formulate definite hypotheses
 Mendel ’s laws of heredity
Mendel’s Experiment
 Mendel used pure or true breeding variety of pea
plants.

 He came up with pure or true breeding tall pea

variety by continuous selfing of the tall pea plants
until only tall pea plants could be produced.

 On selfing the dwarf variety, all the offsprings were

dwarf regardless of the number of times he selfed.

 He then crossed pure breeding tall garden pea

plants with pure breeding dwarf variety and obtained
only the tall pea plants; this is called reciprocal
cross.
Continuation…….

 Parents (1) : Pure Tall x pure dwarf

 Off springs: All Tall

 1. Monohybrid inheritance
 Mendel postulated that the inheritance of a single trait like height is controlled by a
single pair of factors contributed by both parents; this type of inheritance is known as
monohybrid inheritance.

Expression of genetic constitution

In heredity the genetic constitution of organisms follows the rules below:

 Genes are normally represented by letters

 A dominant gene is represented using capital letter while a recessive gene is

represented using a small letter (lower case of the letter)

 The genotype of organism is represented using paired letter symbols

 Where a pair of capital letters represents the homozygous dominant trait

 While a pair of small letters represents homozygous recessive trait

 A pair comprising of one capital letter and one small letter represents heterozygous
trait.

 The symbols ♂ represent male while ♀ represent female.

Genetic crosses and Punnet square
The information concerning Mendel’s work can be expressed
using
 Genetic cross
 Punnet square (checkered)

Example
Pure breeding tall pea plants were crossed with pure breeding
short pea plants. Represent this information using:
a) The genetic cross and
b) The punnet square.
 a) Genetic cross
Procedure for presenting genetic crosses
 Have a genetic key ♂and ♀
 Show the parents
 Show the parental phenotypes
 Show the parental genotypes and a cross (X)
between them
 Show the gametes – conventionally circled
 Show the fusion/fertilization (should be random)
 Indicate the filial generation genotypes
 Indicate the filial generation phenotypes
 Indicate the ratios if necessary
 Procedure:
The key

 Let T represent gene for tallness while t

represent gene for dwarfness

 Genotype for pure tall - TT

 Genotype for pure dwarf - tt

Cross between purebred tall plants
Parents ♂ ♀
Parental phenotypes: tall plant tall plant
Parental genotypes: TT x TT
 Gametes T T T T
 Fusion

 F1 generation TT TT TT TT
 F1 phenotype: all offspring's are tall ( homozygous dorminant)
 Inheritance of dwarfness traits
Parents ♂ ♀
Parental phenotypes: tall plant tall plant
Parental genotypes: tt x tt
 Gametes t t t t
 Fusion

 F1 generation tt tt tt tt
 F1 phenotype: all offspring's are short (homozygous recessive)
 Reciprocal cross
Parents ♂ ♀
Parental phenotypes: tall plant dwarf plant
Parental genotypes: TT x tt
 Gametes T T t t
 Fusion

 F1 generation Tt Tt Tt Tt
 F1 phenotype: all offspring's are tall (heterozygous)
Note:
The hybrid individuals even though genotypically heterozygous, show the phenotype of
the dominant gene
 F1 selfing
Parents ♂ ♀
Parental phenotypes: tall plant tall plant
Parental genotypes: Tt x Tt
 Gametes T t T t
 Fusion

 F2 generation TT Tt Tt tt
 F2 phenotype: 3 phenotypic tall 1 phenotypic dwarf
 Conclusion:
 The gene controlling tallness was dominant to that
controlling the dwarf characteristic

Reason:
 The dwarf characteristic did not express itself
in the filial 1 generation even though one of the
parent plants were dwarf meaning that its
expression was masked by the gene for tallness
Examples of Dominant and recessive
traits among the human beings:
Dominant trait Recessive trait

Non PTC taster

PTC taster

Non albinism /normal /pigments Albinism

Non tongue rolling
Tongue rolling
Free ear lobe Attached earlobe

Widows peak in hairline Widows peak absent

Broad cranium Narrow cranium

 Law of segregation

The characteristics of an organism are determined by genes

which occur in pairs; of such a pair of genes only one
member can be represented in a single gamete.”

 Mendel observed that hereditary factors (genes) may be

combined in one generation and then separated in the next
generation

 Mendel’s first law of heredity is also known as the law

of segregation; it is called the law of segregation because
during gamete formation, the genes in the allelic pair are
separated and end up in different gametes hence cannot
be inherited together
Law of segregation
Genetic ratios and probability
 Genetic ratios – refers to the genotypic or
phenotypic expression of an individual in relation to
the total number of offsprings in a given family

 The phenotypic ratio for F2 generation in monohybrid

inheritance is 3:1 while the genotypic ratio for the
same is 1:2:1

 Probability - refers to the chances of getting an

individual with certain trait in a given family; this is
brought about by random combination of gametes
from either parents during fertilization
Exercise on monohybrid inheritance
 1). Pure bred black chicken were crossed with
pure bred white ones. All the F1 offsprings were
black.
 a). If all the F1 offsprings were allowed to
interbreed, what would be the genotypic and
phenotypic ratio of the F2 generation? Show your
working.

 b). What is the probability of passing the gene
for black colour to the offsprings?
 75% or 0.75
 solution
Parents ♂ ♀
Parental phenotypes: Black chicken white chicken
Parental genotypes: BB x bb
 Gametes B B b b
 Fusion

 F1 generation Bb Bb Bb Bb
 F1 phenotype: all offspring's are black
 (ii)
Parents ♂ ♀
Parental phenotypes: Black chicken Black chicken
Parental genotypes: Bb x Bb
 Gametes B b B b
 Fusion

 F1 generation BB Bb Bb bb
 F1 phenotype: three black chickens and one white chicken
Continuation…..
 2). In an experiment Drosophila melanogaster with
long wings were crossed with those having vestigial
wings. All of the offsprings from this cross had long
wings. Using letter L to denote the gene for the wing
size,
 a). (i) Give the genotype of the parents.

 (ii) Work out the genotype for the F2 generation if
the F1 generation was selfed.

 b). From (a)(ii) above work out the genotypic ratio.
 Complete Dominance
 Complete dominance occurs when one allele
completely suppresses the expression of the
other.

 An allele which suppresses another is

referred to as Dominant while the one which
is suppressed is called Recessive.

 This condition is referred to as complete
dominance e.g. as per the above illustrations.
Incomplete Dominance/Co-dominance
 Is a kind of inheritance where no allele is entirely dominant over the
other. The F1 offsprings posses traits different from their parents i.e.
they have intermediate traits.

 Examples
 a). 4’oclock plant (Mirabilis jalapa) and snapdragons plant - a cross
between red and white flowered plants result in F1 generation with all the
progenies bearing pink flowers. This is a case of incomplete dominance
whereby the two colors blended to form a new color.

 b). Some variety of cattle - A cross between red and white shorthorn
cattle produces a mixture of red and white color; a condition referred to
as roan. This is an ideal case of Co-dominance.

Note: In cases of incomplete dominance and co-dominance, inheritance

is represented by two different capital letters representing the two
alleles.
 Illustration
Illustrations
i). Let R represent the allele for red flower color and W represent an allele
white flower color.
Parents ♂ ♀
Parental phenotypes: Red Flower white Flower
Parental genotypes: RR x WW
Gametes:
R
W
R W W
W

Fusion:

F1 genotype:
RW RW RW RW
F1 Phenotype: all pink flowered
 selfing
Selfing F1 plants
Parents ♂ ♀
Parental phenotypes: Pink flowered Pink flowered
Parental genotypes: RW x RW

Gametes:
RW
W R W
W

Fusion:

F1 genotype: RR RW RW WW

F1 Phenotype: 1 Red flowered : 2 pink flowered : 1White flowered

b). Let R represent the gene for red coat color
and W represent the gene for white coat color.
Parents ♂ ♀
Parental phenotypes: Red coat White coat
Parental genotypes: RR x WW

Gametes: R R W W
W

Fusion:

F1 genotype:
RW RW RW RW
F1 Phenotype:
All Roan coat
 Selfing of f1 generation
Selfing the F1 animals
Parents ♂ ♀
Parental phenotypes: Roan coat Roan coat
Parental genotypes: RW x RW

Gametes: R
W
W R W
W

Fusion:

F1 genotype:
RR RW RW WW
F1 Phenotype: 1 Red coat : 2 Roan coat: 1White coat
Monohybrid inheritance in man
Includes the inheritance of:
 Albinism
 Rhesus antigen
 Achondroplasia

 a) Albinism
 Is a condition where the normal skin pigment fails to
form resulting into individuals with light coloured skin,
white hair and pink eyes

 It is controlled by a recessive gene which is a result of

gene mutation and only expresses itself in homozygous
state
 Illustration:
 A man with normal skin colour married an albino
woman. All their children were phenotypically
normal. If a son from the above couple married a
daughter from another family with similar
conditions, work out the chances of having an
albino in their family:
 Procedure:
 Let A represent the allele for normal skin
pigment and a to represent an allele for albino
 The genotype for normal skin colour is AA, while
that for albinism is aa
 Genetic crosses
Parents ♂ ♀
Parental phenotypes: normal man albino woman
Parental genotypes: AA x aa

A
W
A a a
Gametes: W

Fusion:

F1 genotype: Aa Aa Aa Aa

F1 Phenotype: all (Normal carriers for albino)

 When the F1 progeny are crossed
Parents ♂ ♀
Parental phenotypes: normal carrier normal carrier
Parental genotypes: Aa x Aa

A a A a
Gametes: W

T Fusion:

F2 genotype:
F2 Phenotype: 1normal: 2 normal Carriers: 1 albino
Inheritance of ABO Blood Groups
 Blood group inheritance is a case of multiple
allelism involving three genes.
 Blood grouping is controlled by Genes (alleles) A, B
and O
 Genes A and B are responsible for the presence
of antigen types A, B on the surface of red
blood cells while Gene O leads to formation of No
antigen on the surface of the red blood cells.

Note:
An individual can only inherit any pair of the alleles
A, B or O at a time
Continuation……….

 Gene A and B have equal degrees of

Dominance, i.e. they are Co-dominants,
and will both express themselves when
present together as in the case of
blood group AB while Gene O is
recessive to both A and B hence will
only express itself in the homozygous
state.
 Summary table:
Blood group Genotype Antigen type
(phenotype)

A AA, Ao A
B BB, Bo B
AB AB A & B
O oo None
Illustration for Blood group inheritance
 A baby boy was found abandoned at the railway
station and tested to have blood group O.

 Three couples X – blood group AB/A, Y – blood

group B/A and Z – blood group O/A claimed the
child to be theirs.

 Using genetic cross suggest the possible parents

of the child.
 Ii) couple X
Parents ♂ ♀
Parental phenotypes: Blood group AB Blood group A
Parental genotypes: AB x AO
 Gametes A B A O
 Fusion

 F1 genotype AA AO BA BO
 F 1 phenotype : all blood groups except O possible
 Ii) couple Y
Parents ♂ ♀
Parental phenotypes: Blood group B Blood group A
Parental genotypes: BB x AA
 Gametes B B A A
 Fusion

 F1 generation BA BA BA BA
 F1 phenotype: Only blood group AB possible
 OR for couple Y
Parents ♂ ♀
Parental phenotypes: Blood group B Blood group A
Parental genotypes: BO x AO
 Gametes B O A O
 Fusion

 F1 genotype: BA BO OA OO
 F1 phenotype: All blood groups possible.
 iii) couple Z
Parents ♂ ♀
Parental phenotypes: Blood group O Blood group A
Parental genotypes: OO x AA
 Gametes O O A A
 Fusion

 F1 genotype: OA OA OA OA
 F1 phenotype: Only blood group A possible
 Or for couple Z
Parents ♂ ♀
Parental phenotypes: Blood group O Blood group A
Parental genotypes: OO x AO
 Gametes O O A O
 Fusion

 F1 genotype: OA OO OA OO
 F1 phenotype: Only blood group A and O possible
b) Inheritance of the Rhesus factor
 Possession of rhesus antigen makes ones blood to
be rhesus positive (Rh+) while absence of rhesus
antigen makes ones blood to be rhesus negative
(Rh-).
 The presence of a rhesus antigen is due to a
dominant gene Rh while its absence is due to a
recessive gene rh.
 If one parent is homozygous RhRh, then all the
children be Rh+.
 Rh-children will only result if both parents are
either homozygous (rhrh) or heterozygous (Rhrh)
 Rhesus factor

GENOTYPE PHENOTYPE

RR Rhesus positive
Rr Rhesus positive
rr Rhesus negative
Illustration on inheritance of Rhesus
factor
Work out the genotypes of the offsprings if a homozygous rhesus
positive father marries a homozygous rhesus negative mother.

Parents ♂ ♀
Parental phenotypes: Rhesus +tive Rhesus -tive
Parental genotypes: RhRh x rhrh

Gametes:
Rh Rh rh rh

Fusion:

F1 genotype:
Rhrh Rhrh Rhrh Rhrh
F1 Phenotype: all rhesus positive (Rh+)
 Effect of Rhesus factor
 Blood from an Rh+ person transfused into an Rh- patient will cause the
patient to produce antibodies against the rhesus factor of the donor.
Agglutination will therefore occur.

 If an Rh+ man marries an Rh- woman, the children are likely to be Rh+;
the rhesus antigens can cross from the placenta into the mother’s blood
stream prompting the mother’s immune system to produce the rhesus
antibodies.

 When the antibodies get into the foetal circulation, an antibody-antigen

reaction tales place and the red blood cells of the foetus are destroyed
(Haemolysed).

 In the subsequent pregnancy, the amount of antibodies is high and causes

a lot of damage to the foetal red blood cells resulting into death soon
after birth; a condition called haemolytic disease of new born
(Erythroblastosis foetalis).
Such babies:
 are usually born prematurely
 are highly deficient of red blood cells but may survive if treated
immediately.
Note:
Generally the anti-rhesus antibodies are formed slowly and do not affect
the first child; the subsequent children if also Rh+ may however, suffer
massive destruction of red blood cells.

Treatment of Erythroblastosis foetalis

o Replacement of all foetal blood with massive transfusion soon after
birth. With the current technology, transfusion can even be done
during foetal stage.
o Treating the pregnant mother with anti-rhesus immunoglobulin which
coats any foetal red blood cells’ fragments entering the maternal
circulation, thus preventing the formation of antibodies by the mother.
c) Chondrodystrophic dwarfism (Achondroplasia)

 It’s characterized by ahead and trunk of normal size

but extremely short hands and legs.

 It’s caused by a dominant gene which results from

gene mutation.

 About 80% of Achondroplasia cases die within a year

of birth but those who survive show normal
development and can have children.
Determination of unknown Genotypes
a). Test cross
Is a cross carried out to determine the genotype of an unknown parent
 It is done by carrying out a cross between an individual with
unknown genotype and a Recessive individual for the same trait.

Note:
If the results of the cross exhibit a phenotypic ratio of 1:1 in the F1
generation, then the individual under test is Heterozygous.

 If the phenotype of the F1 generation is uniform and it is that of

the recessive individual, then the individual being tested is
Homozygous recessive.

 If the phenotype of the F1 generation is uniform and it is not that

of the recessive individual, then individual under investigation is
Homozygous dominant.
 b). Back cross
This is the crossing of the F1 individual with the
recessive parent.
 Sex Determination
.
Sex determination in higher animals is controlled by a pair
of chromosomes called sex chromosomes.
In humans the genes that determine sex of a progeny is
located on the sex chromosomes called X and Y
chromosomes.
The remaining 22 pairs are called autosomes and are
responsible for other heritable traits.
A male human being carries XY and described as
heterogametic while the female carries XX combinations
and are described as homogametic.

Note: genes on the Y- chromosome determine maleness

while those on the X chromosome determine femaleness.
continuation……
 . At the end of meiosis, half of spermatozoa carry
X chromosome and the other half carry Y
chromosome; while in the female ova contains only
the X chromosome.

 The sex of a child is a matter of chance and

depends only on whether a spermatozoon that
fertilizes the ovum carries X or Y chromosome;

 There is therefore a 50% chance that fertilization

can result into either a boy child (XY) or a girl
child (XX).
 SEX DETERMINATION
OVA SPERM

XX XY

X X X Y

X X X X
X X Y Y

XX XX XY XY

FEMALE MALE
Note:
In other animals, the male is homogametic while the
female is heterogametic;
 That is XX
ZW for male and XY
ZZ for female e.g. in
birds.

 In insects the Y chromosome is entirely missing;

hence XX for female and XO for male.

 In Drosophila, sex is determined much in the same

way as in humans i.e. XX for females and XY for
males
 illustration
Parents ♂ ♀
Parental phenotypes: Male Female
Parental genotypes: XY x XX
 Gametes X Y X X
 Fusion

 F1 genotype: XX XX XY XY
 F1 phenotype: Female female male male
 Linkage
 Is a case where two or more genes controlling different
characteristics are located on the same chromosome; hence
segregate together into a single gamete.

 Are said to be linked when they are located on the same

chromosome.

 Linked genes segregates together as chromosomes move into

separate gametes i.e. they do not obey Mendel’s 2nd law
inheritance;

 The law of independent assortment which states that “ each

member of a pair of alleles segregates and combines randomly with
either member of another pair.”

 Genes linked together on the same chromosome constitutes a
linkage group.

 Linked genes are normally inherited together since they do not

undergo independent assortment.
 Linked genes
X X X x x x

T T T t t t

R R R r r r

Homozygous Heterozygous
chromosomes chromosomes A pair of alleles
(Allelomorphic genes)

X,T,R– upper case letters Dorminant genes (strong in character)

x, t,r -lower case letters indicate Recessive genes (weak in character)
Independent assortment of linked genes
X x

T t
Parental cell

Linked r
genes R

X x

T t

Daughter cells r
R
 Example
 If a pure bred long winged broad abdomen fruit fly (Drosophila
melanogaster) is mated with a recessive type vestigial winged
narrow abdomen, the F1 generation results in all offsprings
having broad abdomen and long wings as expected.

 Selfing the F1 generation results in F2 individuals showing a 3:1

of broad abdomen with long wings, to narrow abdomen with
vestigial wings.

 This shows that the genes did not sort themselves out
independently as expected.

 Instead, the genes for broad abdomen and long wings

segregated together while those for narrow abdomen and
vestigial wings also segregated together
 Sex linkage
 Sex linkage - Is a situation whereby the genes controlling other
characteristics are located on the sex chromosome; these genes are
therefore transmitted together with those determining sex.

 Most sex linked genes are located on the X chromosome; Y

chromosomes are thought to be almost genetically empty of the linked
genes;

However in man there are few genes linked to the Y chromosome e.g
 Gene responsible with premature baldness in men
 Genes responsible with growth of tufts of hair on the pinna and in the
nose
 Genes responsible for warty / scaly/ spiny skin texture (porcupine
man)

Note: These characteristics are referred to as the Y-borne syndrome

(inheritance).
Continuation….
Genes linked to the X chromosome in man include:
 gene for colour blindness
 gene for Haemophilia (bleeders disease)

Sex limited genes – these are genes located on the

sex chromosomes and determine the sex of an
individual as well as the secondary sexual
characteristics.

Sex linkage in Drosophila melanogaster

 In fruit flies the gene which determines eye colour
is located on the X chromosome. Its corresponding
allele on the Y chromosome is absent.

Illustration of sex linkage in Drosophila melanogaster

 1. When a white-eyed male fruit fly is crossed with a

homozygous red-eyed female,

 All F1 offsprings will have red eyes.

 Key:
 Let the gene for red eye colour be - R
 The genotype for red eyed female - XRXR
 Let the gene for white eye colour be - r
 The genotype for white eyed male - XrY


 solution
Parents ♂ ♀
Parental phenotypes: Red eyed male White eyed female
Parental genotypes: XRY x XrXr
 Gametes Xr Xr
XR Y
 Fusion

 F1 genotype: XRXr XRXr XrY XrY

 F1 phenotype: Red eyed female white eyed
male
 Sex linkage in Humans
a) Color Blindness

This is the inability to distinguish red and green colors by

some people.

 This trait is linked to the sex chromosomes; the gene that

determines normal color vision is dominant over that for
color blindness.

 When a colour blind man marries a woman homozygous for

normal color vision, all their daughters will be carriers for
color blindness while their sons will have normal color
vision.

Colour blindness test
 illustration
Key:
 Let the gene for normal colour vision be – C

 The genotype for female with normal colour vision

- XC XC

 Let the gene for colour blindness be -c

 The genotype for colour blind male - XcY

Colour blind male marries normal female
Parents ♂ ♀
Parental phenotypes: colour blind male Normal female
Parental genotypes: XcY x XCXC
Xc Y X XC
 Gametes C

 Fusion

 F1 genotype: XcXC XcXC XCY XCY

 F1 phenotype: Carrier females Normal males
If a carrier daughter marries a color blind man.
Parents ♂ ♀
Parental phenotypes: colour blind male carrier female
Parental genotypes: XcY x XC Xc
 Gametes Xc Y XC Xc
 Fusion

 F1 genotype: XcXC XcXc XCY XcY

 F1 phenotype: Carrier females, colour blind female, Normal males , colour blind male
 Normal male marries carrier female
Parents ♂ ♀
Parental phenotypes: Normal male Carrier female
Parental genotypes: XCY x XCXc
XC Y X Xc
 Gametes C

 Fusion

 F1 genotype: XCXC XCXc XCY XcY

 F1 phenotype: normal female Carrier females Normal males colour blind male
b) Haemophilia (Bleeder’s Disease)
 Haemophilia is a condition whereby the blood of
a person suffering from the disease takes
abnormally long time to clot in case of a cut
resulting in prolonged bleeding.

 It is caused by a recessive gene on the X

chromosome which determines the synthesis of
a clotting factor (viii);

 Clotting factor (viii) is one of a number of

proteins involved in blood clotting.
 Illustration
 A man with normal blood clotting marries a
woman who is a carrier for Haemophilia.
Determine the genotypes of the F1 generation?
 Key:
 Let the gene for normal blood clotting be - H

 The genotype for normal male - XH Y

 Let the gene for Haemophilia be - h

 The genotype for carrier female - XHXh
 Normal male marries carrier female
Parents ♂ ♀
Parental phenotypes: Normal male Carrier female
Parental genotypes: XHY x XHXh
 Gametes XH Y XH Xh
 Fusion

 F1 genotype: XHXH XHXh XHY XhY

 F1 phenotype: normal female Carrier females Normal males Haemophiliac male
 Pedigree
 Is a record in flow chart form that shows the
inheritance of a particular trait throughout
different generations of related individuals.

 Sex linked traits such as haemophilia , and

colour blindness can be traced down a family
line using the pedigree chart.

 In pedigree, the characteristics being traced

are represented graphically as shown below:
 Illustration of Haemophilia
KEY
Normal male

Haemophiliac male

Normal female

Haemophiliac female
 Pedigree tree diagram
KEY 1 2

3 4 5 6 7 8

9 10 11
 Assignment
 (i) Indicate the genotype of individual 2, 3 and 8
using letter H to represent gene for normal blood
clotting and h for Haemophilia.

 (ii) What is the probability that individual number
6 would be heterozygous for the characteristic?

 (ii) Work out the genotypes of the offsprings
number 7
 Note:
 Sex linked traits are more common in males
than in females because

 Males being heterogametic lack another X

chromosome which could carry an alternative
gene for the same trait; hence they are either
sufferers or normal

 Females being homogametic results into some

females being carriers of a particular trait
though they appear phenotypically normal.
 Mutations
Mutation - is a spontaneous / sudden change in the genetic
constitution / make-up of an organism.

Characteristics of mutation:
 Mutations are permanent
 Mutations are heritable
 Mutations are spontaneous
 Mutations are rare

Note:
 Organisms which exhibit mutations are called mutants.

 Mutations are usually due to recessive genes, most of which

are transmitted from parents to the offsprings in the usual
Mendelian fashion hence are naturally very rare.
 Causes of Mutations
Factors within the environment which cause mutations are
called mutagens

Mutations may occur naturally e.g. during cell division

(crossing over).

However they can also be induced by certain factors of the

environment such as:
 Radiations e.g. Gamma rays, ultra-violet rays, beta and
alpha particles,
 A variety of chemicals including mustard gas, colchicine's,
formalin, LSD (lysergic acid diethylamide) etc.
 Exposure to heavy metals such as lead and mercury
 Viruses such as human papilloma virus
 Extremely high temperatures.

 Note:
 Mutational changes are the basis of discontinuous
variation in the populations.

 These mutations can be beneficial, harmful (lethal)

or neutral.

 Mutations occurring in somatic cells can not be

passed to offsprings but those occurring in gametes
will. i.e. characteristics an organism acquires in the
course of its lifetime cannot be passed on to the
offsprings.

 Types of mutations

There are two types of mutations namely:

 Chromosomal mutation
 Gene mutation

a) Chromosomal mutation/aberration
 These are mutations involving sudden change in the
number or structure of chromosomes in a cell.

Origin of chromosomal mutation

 Chromosomal mutations can be traced back to prophase I
of meiosis where homologous chromosomes pair up during
synapsis and form chiasmata followed by crossing over.
 The breaking of chromosomes at the chiasmata and
crossing over creates opportunity for various changes on
chromatids leading to chromosome mutations.
 Types of chromosomal mutation
There are five types of chromosome mutations.
These are:
 Deletion
 Duplication
 Inversion
 Translocation
 Non-disjunction
 i). Deletion
 Is a case where some sections of a chromosome break
off and fail to reconnect to the main chromosomes or any
chromatid; the section is lost as well as the genetic
material it carries hence Deletion

Effect of deletion
Involves loss of genes and the individual
may show severe abnormalities as traits
associated with the genes are lost.
 ii). Duplication
Is a case where a portion of chromosome replicates and
adds an extra length to it. In so doing, a set of genes is
represented twice in the chromosome.

Effect of duplication
May lead to over-emphasis of certain traits which can be fatal, neutral or
beneficial depending on the section of chromosome involved.
 iii). Inversion
Is a case where the middle piece of a chromosome breaks off, rotates
through an angle of 1800 and then rejoins up again.

A
A
C
B
D B
C
D
D This portion of
chromosome detaches C
Rotates 1800 the rejoins
E E
the main chromosome

Effect of inversion
It leads to the reversal of the nucleotide sequence on the chromosome; which
may be either beneficial or lethal by bringing certain genes together.
 iv). Translocation
Is a case where a portion of chromatid breaks off and is attached to another
chromatid of a non-homologous pair.
A M M

B N N

C E O O

D F P P

E G Chromosome 11 E
11
F F
This portion detaches
and attaches itself to a
G different chromosome G

Chromosome 1 Resulting chromosome

1 chromosome

Effect of translocation
Genes of a homologous pair are switched to a non homologous pair resulting
into development of some structures in abnormal position
Chromosomal abberations
 v). Non-disjunction
Is a case where the homologous chromosomes fail to
segregate during gamete formation (During anaphase
II of meiosis) therefore ending up into a single gamete.
This will therefore lead to half of gametes acquiring
two of the same chromosomes and the other half, none
at all.

 Effect of Non disjunction
 Non disjunction may lead to:
 An individual with three of one kind of chromosome
arising after fertilization a condition known as
trisomy; the individual is referred to as trisomic.
 An individual with only one member of a chromosome
pair arising after fertilization a condition known as
monosomy; the individual is said to be monosomic.
Illustration of non dis junction
 Effects of non disjunction
Non disjunction is known to result into a number of human diseases which
diseases include:
 Down’s syndrome
 Klinefelter’s syndrome
 Turner’s syndrome.

i. Down’s syndrome (mongoloism)

It is due to the acquisition of an extra chromosome in the 21st pair.

Such individuals have the following characteristics:

 Slit-eye appearance i.e. mongolism (just like people from the Mongolian
race)
 Reduced disease resistance.
 Mental deficiency
 Thick tongue
 Cardiac mal-functions

 Mongoloids usually have 47 chromosomes.

Mongoloid or Downy syndrome
 ii. Klinefelter’s Syndrome
 Individuals have two X chromosomes and one Y
chromosome (genotype XXY).
 It is brought about by failure of the X
chromosomes to separate during egg formation.
People with this syndrome are externally males
with feminine features like:
 Female-like breasts, a condition called
Gnaecomastia.
 Under-developed testes which produce few or no
spermatozoa.
 Reduced size of the penis.
 Normal male marries carrier female
Parents ♂ ♀
Parental phenotypes: male female
Parental genotypes: X Y x X X
Gametes XY o X X

 Fusion

 F1 genotype: XYX XYX XO XO

 F1 phenotype: Klinefelter's Turners syndrome
Non disjunction and sex determination

Sex chromosome sex

XXY Male
XYY Male
XXX Female
XO Female
YO Male who dies
 iii. Turner’ Syndrome

Individuals have one X chromosome; thus, the

individual has 45 chromosomes.

Such individuals are:

 Females who are sterile.
 They lack breasts
 Have premature ovaries and small uterus,
 Are short in stature.
 Polyploidy
This is the presence of more than two sets of
chromosomes in a cell.

It occurs when the homologous chromosomes fail to

segregate during gamete formation.

It has the following effects on plants:

 Increased yields
 Increased resistance to drought, pests and diseases.
 Early maturity

 2. Gene / point mutations
These are sudden changes in the chemical nature of
the genes.

They occur as a result of the alteration of the DNA

molecule therefore altering a particular gene.

Effects of gene mutations

 Distorts the intended genetic information (DNA
message) resulting into wrong order of amino acids
on a particular polypeptide chain hence formation
of a wrong protein.

 Consequences of Gene Mutation
Gene mutations lead to:
 Emergence of insect resistance to insecticides:
e.g. mosquito strains to DDT

 Micro-organisms resistance to antibiotics

 Immunity in mammals

 Genetic disorders such as sickle cell anaemia,

albinism, Haemophilia, and colour blindness.

 Types of Gene Mutations

There are four types of gene mutations.

These are:
 Insertion
 Substitution
 Inversion
 Deletion
 i) Insertion
Is a situation where an extra nitrogen base is included in the base triplet
therefore interfering with the general sequence of nitrogen bases on the
DNA strand
Original DNA strand
strand A
A T T C G A T A T

An Adenine inserted
inserted
Resulting DNA strand
strand A T T A C G A T A T
 ii) Substitution
Is where a portion of DNA base triplet is replaced with a completely new
portion. In this case the base sequence on the strand is maintained but the
information passed on to the RNA is incorrect
Original DNA strand
A T T C G A T A T

CGA replaced with TGC

Resulting DNA strand

A T T T G C T A T
 iii) Inversion
Is where a portion of DNA strand detaches from the mother strand and
0
rotates thorough 180 before rejoining the strand. This results into reversed
order of base sequence on the strand.

Resulting DNA strand

strand
A T T T G C T A T

Detaches and rotates 1800

1800
Resulting DNA strand
strand
A T T C G T T A T
 iv) Deletion
Is a case where a portion of DNA base triplet detaches and falls off resulting
into a DNA strand with less nitrogen bases.
Resulting DNA strand
strand
A T T T G C T A T

A Guanine detaches and get lost

lost G

A T T T C T A T
Summary of gene mutation
Human Diseases/disorders attributed
to Gene Mutations
a) Sickle cell anaemia
 It is a human disease where the normal haemoglobin
(haemoglobin A) in Red blood cells is substituted
with abnormal haemoglobin (haemoglobin S)
 The abnormal haemoglobin S has an altered amino
acid sequence whereby the amino acid glutamic acid
in the normal haemoglobin A is substituted by
another amino acid valine; resulting into the
deformation of the red blood cells from the normal
biconcave discs to long thin crescent-like shapes,
i.e. like a blade of a sickle.
What are the symptoms of sickle cell?
Constantly short breath

Feeling very tired or fatigue

Unable to carry out strenuous exercise

Reduced immunity , thus frequently ill

 Normal and sickle cell R.B.C

Normal
RBC

Sickle cell
RBC
Continuation…
 Sickle cell inheritance is in the incomplete dominance
fashion. It is transmitted through a gene HBS that shows
equal dominance to that for normal haemoglobin HBA.

 People with genotype HBAHBA are normal, while those with

genotype HBAHBS are carriers i.e. sickle cell trait and
suffer mild anaemia since about 30-50% of their red
blood cells are sickle shaped hence incapable of
transporting oxygen.

 People with genotype HBSHBS are sufferer and are

seriously anaemic since all their red blood cells are sickle
shaped and therefore incapable of transporting oxygen.
 Inheritance of sickle cell trait
Parents ♂ ♀
Parental phenotypes: sickle cell trait sickle cell trait
Parental genotypes: HbA HbS x HbA HbS
Gametes HbA HbS HbA HbS

 Fusion

 F1 genotype: HbA HbA HbA HbS HbS HbA HbS HbS

 F1 phenotype: normal haemoglobin sickle cell trait sickle cell anaemia

 Effect of sickle cell
 At low oxygen concentration, haemoglobin S becomes
insoluble forming crystals; hence load very little amounts
of oxygen; the crystals may also block the small
capillaries in various organs (If this happens in the vital
organs like the brain or heart, death may occur).

 The sickle shaped red blood cells are very fragile and
rapture (haemolyses) very easily hence victims suffers
serious anaemia

 Heterozygote, genotype HBAHBS, are said to have sickle

cell trait. In this condition, about 30-40% of the red
blood cells have haemoglobin S while the rest are normal;
such people are phenotypically normal under ordinary
conditions and may lead perfectly normal lives. However,
under severe physical exertion or at abnormally low
oxygen concentration, their red blood cells may become
sickled leading to anaemia.
Continuation…
Advantage of sickle cell trait:
 In some parts of Africa, up to 20% of the
population is carrier of sickle cell gene. This
suggests that the trait has a survival value.
 The carriers of the gene have lower
susceptibility to malaria than normal individuals.
 This is because the malaria parasites survive very
poorly in the sickled red blood cells.

 Note: people with sickle cell anaemia often die

before the age of 20 years.
 b) Albinism –
 Albinism – this is lack of pigment in the eyes, skin
and hair.
 It is an inherited conditions resulting from a
combination of recessive genes passed from both
parents of an individual. The gene which results in
albinism results from gene mutation, especially
deletion, prevents the body from making the usual
amounts of a pigment called melanine.
 An albino is an animal that lacks pigment. . The
albinism , an enzyme is necessary to act on tyrosine
which is required in melanine formation
Inheritance of albinism
Parents ♂ ♀
Parental phenotypes: male with normal skin female with normal skin
Parental genotypes: A a x A a
Gametes
A a A a

 Fusion

 F1 genotype: AA Aa aA aa
 F1 phenotype: Normal carrier carrier Albino
Normal skin and an Albino
(c) Chondrodystrophic dwarfism (Achondroplasia)

 It’s characterized by ahead and trunk of

normal size but extremely short hands and
legs. It’s caused by a dominant gene which
results from gene mutation.
 About 80% of Achondroplasia cases die within
a year of birth but those who survive show
normal development and can have children.
 Note: Old parents transmit a slightly greater
number of mutations to their offsprings than
younger parents; X-rays are the major causes
of mutations
Effect of Environment on Heredity
 The development of organism depends on its
genetic make-up and the environment.
 The interaction between the two will modify the
phenotype of the organism.

 For example: a plant with the potential to grow
tall may fail to do so due to lack of soil fertility
or poor climate.

P= G+E
 Phenotype = Genotype + Environment
 Practical Application of Genetics
 a) Plant and animal breeding

 (i) Artificial selection - Offsprings resulting from a cross between two genetically
dissimilar lines often posses beneficial traits not shown by either of the parents.
 This principle is known as heterosis or hybrid vigor.

 Examples
 Hereford breed of cattle produces high amount of quality beef and matures quickly.
The Boran breed from Kenya has high disease resistance and ability to feed and grow
on dry pasture. A cross between a Hereford bull and a Boran cow yields a suitable
hybrid with all these beneficial qualities.

 (ii) Polyploidy has been quite useful in plant breeding.

 The original wheat had 14 chromosomes but the commercial wheat has either 28 or
42.
 The tetraploid arouse from a cross between the original diploid wheat and a wild
grass, followed by doubling of the chromosome number to form a fertile hybrid. The
hybrid is characterized by increased yields, increased disease, pest and drought
tolerance, and early maturity.

 (iii) Transgenic organisms
Transgenic organisms have been developed through genetics.

Transgenesis is whereby certain desirable traits of plants or animals are

identified and the genes determining them removed and inserted into other
organisms with the aim of improving the quality or yields.

Transgenic organisms help solve problems encountered in Agriculture in

such ways as:

 Increased yields to solve food problems in developing countries.

 Improved food quality e.g maize and wheat with high protein content.
 Disease resistance
 Tolerance to environmental factors such as high temperatures, wind,
e.t.c.
 Increasing growth rate by shortening the time from planting/birth to
harvest/maturity.
 This cuts down on production cost and increase the profit margin.
 (b) Blood Transfusion - Blood typing is done to
determine the blood groups hence the antigens it
is carrying to avoid agglutination. It also reveals
the rhesus antigens.
 (c) Deciding disputed parentage
i. Blood typing
ii. DNA finger printing
 (i) Blood Typing - Blood group types of the mother, baby and
alleged father are established and the results used in deciding
whether there is a chance that the man could be the biological
father. Blood typing only conclusively confirms that the alleged
man is not the biological father but not that he is.

 Examples
 An unmarried girl gives birth to a child and accuses a well known
politician of being the biological father. The mother is blood
group A and the baby has blood group O. The accused man
however has blood group AB.

 (ii) DNA ‘Finger-printing’ - DNA ‘finger-printing’ is used to
conclusively establish whether a man is responsible for siring a
child in dispute or not. It is based on the fact that a child
inherits one set of DNA from the mother and the other from the
father. DNA is extracted from the father, mother and the child
and matching is done. If the portion of DNA from the father
matches the one in the child, then paternity is confirmed.
 (d) Crime Detection -This is done through DNA ‘finger-printing’
owing to the fact that each individual has a unique pattern of
DNA. A specimen from the culprit is obtained from the crime
scene e.g hair, blood, or semen in the event of rape, e.t.c. and
DNA extracted from it. This pattern of DNA is then compared
with that of several suspects and the culprit is isolated.

 (e) Genetic counseling - this involves provision of
information and advice on genetically inherited
disorders, their risks and outcomes, for informed
decision making. For instance, genetic information
can be used to advice couples who have hereditary
diseases about the chances of their offsprings
inheriting the diseases such as albinism, sickle
cell anemia Haemophilia, Erythroblastosis
foetalis e.t.c.
Advantages of genetic counseling
 It helps to reduce the suffering of both the
victims and their families. The couple is advised to
make informed decisions on consequences of
having a baby with genetic defects.
 Help reduce costs of caring for a child suffering
from a genetic disease.
 People predisposed to genetic diseases could be
helped in reducing the severity.
 Example
 Susan is a carrier of Haemophilia and is worried that her
children will turn out to be Haemophiliac. What do you
advice her?

 Analysis
 (i) If she marries a normal man, she gets a normal son, a
normal daughter, a haemophiliac son and a carrier daughter.

 (ii) If she marries a haemophiliac man, she gets a normal

son, a carrier daughter, a haemophiliac son and a
haemophiliac daughter.

 Advice
 It is clear that the outcome depends on her genotype and
that of the spouse. It would be better if she marries a
normal man.

 Genetic engineering
 (f) Genetic engineering - involves identifying desirable
gene in an organism, then isolating, altering, and
transferring it into another living organism.

 It has made it possible to produce many useful substances

necessary for life commercially. e.g. hormones, drugs such
as antibiotics, vaccines e.t.c. artificial insulin has been made
through genetic engineering.

 Note: Gene mapping is a procedure in genetic engineering
that involves identifying specific positions occupied by
specific genes on the chromosome.

 Gene therapy is the replacement of faulty genes with

normal ones aimed at correcting genetic disorders i.e.
Duchems muscular dystrophy, cystic fibrosis, e.t.c.

Insulin production by Genetic engineering

Transferring a gene that determined insulin production in human

cell into bacteria hence the bacteria produce human insulin
 Past KCSE questions
 1989: In an experiment, a variety of garden peas having a smooth seed coat was
crossed with a variety having a wrinkled seed coat. All the seeds obtained in the
f1 generation had a smooth seed coat. The f1 generation was selfed. The total
number of f2 generation was 7324.
 Using appropriate letter symbols, work out the genotypes of the f1 generation

 From the information above, work out the following for the f2 generation.
 Parental gamete
 F2 genotypes
 Genotypic ratio
 Phenotypic ratio
 Probability of getting wrinkled seed coats

 1992: Write the base sequence of the messenger RNA (MRNA) that would be
coded from the DNA strand shown below

 What is mutation?
 Name two types of chromosomal mutation
 State two factors that may cause mutation
 What is significance of chiasma formation during meiotic cell division
 Past KCSE questions
 1993: In a certain plant species, some individual plants may
have only white, red or pink flowers.
 In an experiment plant with white flowers was crossed
with a plant with red flowers. The parents’ plants were
pure lines. All the plants f1 generation were pink flowered.
Using letter R to represent the gene for red colour and
letter W for white colour,

 Work out the genotypes of f1 generation

 If the plants from f1 generation were selfed, what would
be the phenotypic ratio of f2 generation
 What is the genetic explanation for the absence of plants
with red and white in the flowers of f1 generation

 1994: State two structural differences between

ribonucleic acid (RNA) and deoxyribonucleic acid (DNA)
 Past KCSE questions
 1996: in an experiment black mice were crossed and the off springs were
black and brown. The gene for black is dominant over that of brown colour.
Using letter B to represent the gene for black colour and b to represent
the gene for brown colour.
 Work out the genotypes of f1 generation
 What is the age phenotypic ratio of the f1 offspring
 1997: in a breeding experiment, plants with red flowers were crossed.
They produced 123 plants with red flowers and 41 with white flowers
 Identify the recessive character. Give a reason for your answer.
 What was the genotype of the parent that gave rise to the plants with red
flowers and white flowers?
 If the white flowers were selfed, what would be the genotypes of their
offspring?
 1998: in a family with four children, three were found to have normal skin
pigmentation while one was an albino. Using letter A to represent gene for
normal skin pigmentation and a to represent the gene for albinism.
 What are the genotypes for the parents?
 Work out the genotypes of:
 Normal pigmented children
 The albino child
 What is the probability of that the fifth child will be an albino?
 Revision questions
 1999: in an investigation with flowers, red flowers were crossed with plants
with white flowers. All the plants in the f1 generation had pink flowers.
 Give reason for the appearance of pink flowers in the f1 generation
 If the plants from the f1 generation were selfed, state the genotypic ratio of the
f2 generation.
 2000: the chart below represents the results of successive crosses starting
with red flowered plants and white flowered plants and in which both plants are
pure breeding
 Parental genotypes: red flowers x white flowers

 First filial generation
 Selfed
 Second filial generation

 3 red flowers: 1white flowers
 3:1

 What were the parental genotypes? Use letters R to represent the gene for red
colour and r for white colour ( 2 mks)
 What was the colours of the flowers in the first filial generation(1mk)
 Give a reason for your answer in b above(1mk)
 If 480 flowers were obtained in the second filial generation, how many f2 plants had
white flowers? Show your working (4 mks)
 Revision questions
2001: Name three types of chromosomal mutations(3mks)
 Tallness in pea plants is due to a dominant gene. Two tall pea
plants were crossed and their f1 generation were in the ratio of
3 tall: 1 short plant. Using letter T to represent the gene for
tallness and t for shortness. Give :
 Genotypes of the parents (2mks)
 Gametes of the parents(2mks)
 Genotypic ratio of f1 generation(2mks)
2002: give an example of a sex linked trait in humans on:
 Y……chromosomes
 X…….chromosome
 2003
 a)What is meant by the term sex linked (2mks)
 B)Name two sex linked traits in humans(2mks)
 C)In drosophila melanogaster the in heritance of eye colour is sex
linked. The gene for red eye Colour is dominant. A cross was
made between a homozygous red eyed female and a white eyed
male work out the phenotypic ratio of f1 generation(use R to
represent the gene for red eyes) (5mks)
 Revision questions
 2004: A cross between a red flowered plant and white flowered plant produced
plants with pink flowers. Using letter R to represent the gene for red flower and
W for white colour,

 What were the parental genotypes(1mk)
 Work out a cross between f1 plants(4mks)
 Give the phenotypic ratio of f2 plants
 Name a characteristic in humans which is controlled by multiple alleles(1mk)
 2005 in a garden with plants of same species,705 plants had red flowers while
224 had white flowers
 Work out the ratio of red to white flowered plants.
 Using letter R to represent the dominant gene, workout a cross between f1 offspring
and a white flowered plant (4mks)
 What is the genotypic ratio from the cross in b above
 What is meant by the term allele(1mk)
 2006
 A)Name two disorders in human beings caused by gene mutation (2mks)
 B)Describe the following chromosomal mutations:
 Inversion
 Translocation
 C)In mice the allele for black fur is dominant to allele for brown fur. What
percentage of offspring would have brown fur from a cross between heterozygous
black mice and brown mice? Show your working. Use letter B to represent the
allele for black colour (4mks)
 Revision questions
 2007
 In maize the gene for purple colour is dominant to the gene for white colour. A
pure breeding maize plant with purple grains was crossed with a heterozygous
plant
 Using letter G to represent the gene for purple colour , work out the genotypic ratio
of the offspring (5mks)
 State the phenotype of the off spring1mk
 What is genetic engineering? (1mk)
 What is meant by hybrid vigour?(1mk)

 2008
 A pea plant with round seeds was crossed with a pea plant that had
 Wrinkled seeds
the gene for round seeds is dominant over that for wrinkled seeds

 Using letter R to represent the dominant gene state:

 The genotype of parents if plant with round seed was heterozygous ( 2 mks)
 The gametes produced by the round and wrinkled seed parents
 a) Round seed parent
 b)Wrinkled seed parent
 C)The genotype and phenotype of F1 generation. Show your working ( 3 mks)
 D)What is a test – cross? ( 1 mk)

 Revision questions
 2009
 When the offspring of purple and white flowered pea plants were crossed, they
produced purple and white flowered plants in the ratio of 3: 1
 Using letter H to represent the gene for purple colour
 (a) State the genotype of:
 (i) Parents ( 2 mks)
 (ii) F1 Generation ( 1 mk)
 (b) Work out the cross between plants in the F1 generation ( 4 mks)
 (c) Account for the colour the flowers in plants of the F1 generation ( 1 mk)

 2010
 When pure breeding black guinea pigs were crossed with pure breeding white
guinea pigs, the offspring had a coat with black and white patches.

 Using letter G to represent the gene for black coat colour and letter H for white
coat colour, work out the genotypic ratio of F2.
 State the phenotypic ratio of F2. (1 mark)

 i) Name the term used when two alleles in heterozygous state are fully
expressed phenotypically in an organism.
(1 mark)
 Ii) Give an example of a trait in human beings where the condition whose term
is named in (c) (i) above expresses itself. (1 mark)
 Revision questions
 2011
 In humans, hairy ears is controlled by a gene on the
Y Chromosomes.
 a)Using letter YH to represents the chromosome
carrying the gene for hairy ears, work out a cross
between a hairy eared man and his wife. (4 marks)
 (b) (i) What is the probability of the girls having
hairy ears? (1 mark)
 (ii)Give reason for your answer in (b (i) above.
(1mark)

 (c) Name two disorders in humans that are
determined by sex linked genes (2marks)


 Revision questions
 2012
In a certain plant species which is normally green, a recessive gene for colour (n) causes the
plants to be white in colour. Such plants die at an early age. In the heterozygous state,
the plants are pale green in colour but grow to maturity.

a)Give a reason for the early death of the plants with the homozygous recessive gene. (2 marks)

(b) If a normal green plant was crossed with the pale green plant, what would be the genotype of
the first filial generation (F generation)? Show your working. (4 marks)

(c) If heterozygous plants were self-pollinated and the resulting seeds planted, work out the
proportion of their offspring that would grow to maturity. (2 marks)
 2013
In an investigation, a variety of pea plants grown from seeds with smooth coats were crossed
with plants grown from seeds with wrinkled coats. All the seeds obtained in the first filial
(F1) generation had smooth seed coats.

(a) Using the letter R to represent the gene for smooth seed coat, work out the genotype of the
F1 generation. Show your working. (3 marks)

(b) If the F. Generation was selfed, determine the phenotypic ratio of the second filial (F2 )
generation. Show your working. (3 marks)

(c) If the total number of seeds in the F2 generation was 14 640, calculate the number of seeds
with wrinkled coats. Show your working. (2 marks)


 Revision questions
