13

GENETICS, INHERITENCE & NATURAL SELECTION

INHERITANCE
The study of the transmission of characteristics from one generation to the next (from parent to
offspring) is called Inheritance, Heredity or Genetics.

DEFINITION OF TERMS

A Gene is a basic unit of inheritance for a given characteristics. It may be defined as the unit of
inheritance which is passed from parents to offsprings. Genes are found along the length of a
chromosome. The chemical which forms the genes is called the DNA.

A DNA consists of large complex molecules made up of smaller molecules of compounds called
nucleotides. A nucleotide consist of;
• A five Carbon sugar (Deoxyribose)
• A base e.g. Thymine, Cytosine, Adenine, Guanine
• A phosphate group

It is the functional unit of chromosomes which determine the individual's characteristics such as eye
colour and nose shape. The genes are arranged along the length of each chromosome like a string of
beads. Each gene controls specific characteristics, but sometimes a characteristic may be controlled by
several genes acting together.
Genes are a section of DNA (deoxyribonucleic acid), which is part of a chromosome. Genes determine
the presence or absence of a certain characteristic in organisms. It is very important that when a cell
divides, the genes should be shared out evenly between the two daughter cells, and this means that

chromosomes must behave in an orderly way

ALLELES: Each gene can exist in a number of forms e.g. TT, Tt, t t. Different pairs of the same gene
are called alleles. They are found at the same locus (position) but on different chromosomes of the
homologous pair. Alleles also control alternate characteristics e.g. Tallness and shortness. In the case of
eye colour for humans one allele may be for the blue eyes and another might be for brown eyes.
Haploid cells can have only one allele of each gene for any particular character. E.g. the
gamete may carry a brown allele or a brown allele. Usually applies to the nucleus of gametes.

Diploid cells have two alleles of each gene. These could be two alleles for blue eyes or two alleles for
brown eyes or" they could have one allele each for blue and brown. Most cells of the body are diploid.

LOCUS (Plural LOCI) - a position occupied by a gene along a chromosome.1q

CHROMOSOMES
Chromosomes are thin, thread-like .structures which are found in the nucleus of the cells, they carry
genes. In ordinary resting cells, chromosomes cannot be seen, but when the cell is about to divide, they
can be seen because at this stage they become shorter and fatter making them show up distinctly.

Chromosomes are present in homologous pairs. They are identical in length and gene number. One
chromosome of the pair comes from the male parent and the other from the female parent.

Homologous chromosomes - a pair of matching chromosomes, one from the male and the other from
the female parent.

HOMOZYGOUS - Possessing a pair of identical genes controlling the same characteristics:

will breed true for the characteristics. (True for dominant alleles)

E.g. TT – Homozygous dominant (homozygote)

t t – Homozygous recessive

HETEROZYGOUS - Carrying a pair of contrasting genes for any heritable characteristic: will not
breed true for the characteristics. Both alleles are present at a locus. e.g. T t – Heterozygous

MITOSIS - This is the type of cell division that occurs in ordinary body cells during growth. When cells
are about to divide, chromosomes become more visible. Mitotic cell division occurs in stages (namely;
Prophase, Metaphase, Anaphase, and Telophase). During mitotic division the daughter cells end up
with the same number of chromosomes as their parent cell. The chromosome number produced is known
as the diploid number.

Importance of Mitotic division

♣ The process maintains genetical stability within a population of species

♣ The process leads to cell multiplication & hence growth of the organism

♣ It makes asexual reproduction, regeneration & cell replacement possible

MEIOSIS — This is the type of division that occur in gonads during gamete formation. In meiosis
division, the chromosome number is halved. The chromosome number is therefore known as the haploid
number.
GENOTYPE - It is the genetic makeup of an individual. It is the genotype which determines
characteristics. Genotype is controlled by the sequence of bases in a DNA strand, which controls that
characteristic. If both alleles are the same, for example: both blue or both brown, then the genotype for
this characteristic is called homozygous. If the alleles are different, for example one for each colour, then
the genotype is called heterozygous.

PHENOTYPE – The physical appearance of the characteristic, i.e. Observable characteristic of an

organism e.g. Tallness, colour of eyes e.t.c.

DOMINANT - The allele whose characteristic appears in the organism is called dominant. The other
allele whose characteristic does not appear in the organism is called recessive. In genetic terms, dominant
alleles show their characteristics whether their genotype is homozygous or heterozygous. Recessive
alleles show their characteristics when their genotype is homozygous.

RECESSIVE - the gene which is not expressed phenotypically when inherited in the heterozygous
condition. It suppressed by the dominant gene.

SYMBOLS - Alleles are usually represented by symbols, letters are generally used.
Dominant alleles are used in the upper case (capital letters) and recessive alleles are used
in lower case. In the case of the allele controlling eye colour in humans, brown eye is
dominant to blue eye. So the capital letter B can represent brown, and small letter b can
represent blue
B - a brown allele, b - a blue allele.

Brown eye and blue eye are two phenotypes.

Their genotype could be as follows:

HOMOZYGOUS HETEROZYGOUS
Phenotype Genotype
brown eyes
Bb

brown eyes blue eyes

BB b b

(dominant) (recessive)
13

MQNOHYBRID CROSSES (Also called "single-factor inheritance"

The process of sexual reproduction in both plants and animals in genetics is called crossing.
* A cross in animals involves the fusion of sperm and ovum, and in plants, the fusion of pollen grain
nuclei and egg nuclei.
* The way in which a single characteristic e.g. eye colour is passed on from parent generation to
offspring generation is called a monohybrid cross.

F1 generation: The offspring produced after one generation of breeding are known as the fir st filial
generation and this is usually abbreviated as F1 generation.

F2 generation: The off spring resulting from the interbreeding of the F1 generation are called the F2
generation.

Brown X Blue

BB X bb

Male

Gamete B B

b Bb Bb

b Bb Bb

When two homozygous parents BB and bb cross, the genotype of all offspring is
heterozygous Bb. The phenotype of all offspring is brown eyed.
If these parents that are each heterozygous are allowed to mate as shown below;

(2) Bb X Bb
 Gamete B b

B BB Bb

b Bb bb

This shows a ratio of 3 individual with brown eyes to 1 individual with blue eyes. The ratio will be 3: 1
in the phenotype.

(3) A cross between a person who is heterozygous Bb and a person who is homozygous recessive bb

Bb X bb

Gamete B b

b Bb bb

b Bb bb

This gives a ratio of 1: 1 of brown eyes to blue eyes.

Why Observed Ratios Differ From Expected Rations

Observed ratios sometimes differ from expected ratios especially when there are small number of
progeny because fertilization between sperm & ovum is a matter of chance, you can never tell whether a
B sperm or b will fertilize a B or b ovum. It is possible that out of six offsprings, only one may have a
certain defect

BACK CROSS (TEST CROSS)

The way to discover an unknown genotype is by carrying out a further cross known as the test cross. The
test cross is used to determine the genotype of a dominant phenotype. It always involves crossing of the
unknown genotype to the homozygous recessive. This is the genotype of one the parents in the standard
monohybrid cross and that is why it is also known as Back Cross.

Example;
From the earlier example given under monohybrid inheritance, a brown eye colour may result from B B
or B b, therefore the exact genotype is not apparent from the phenotype, unlike the genotype of a
Fema
blue eye which can only be from b b.
les

The outcomes of two possible crosses are shown;

i) Involving genotype B B

Parental Phenotype brown eyed Blue eyed

Parental Genotype BB bb

Back cross progeny genotype; Bb Bb Bb Bb

Progeny phenotype; (all brown eyed)

If the unknown genotype is B B, then all the back cross progeny will inherit a B from the parent and
will show a dominant trait (brown)

ii) Involving genotype B b

Parental phenotype Brown eyed Blue eyed

Parental genotype Bb bb

Back cross progeny Genotype; B b Bb bb bb

Progeny phenotype; (2 Brown eyed and 2 blue eyed)

If the unknown genotype is B b; each of the offsprings has a 1 in 2 chances of receiving a B and the
same chance for receiving a b.
Therefore on average, the offsprings of a heterozygous and a homozygous recessive show a ratio of
1 heterozygote : 1 homozygote recessive

PEDIGREEES FOR MONOHYBRID CROSSES

A Pedigree is a record of the ancestry of an individual. A pedigree in the form of a chart can be used to
illustrate the transmission of a heritable condition in a family.

The symbols used in a pedigree chart;

= Normal Male = Affected Male

= Normal Female = Affected Female

= Marriage

A marriage with four children, 1 daughter and 3 sons, 1 of whom is affected by the inherited condition
will be shown as follows;

INCOMPLETE DOMINANCE: This sometimes means the same as ' Co-dominance', but strictly it
applies to a case where the effect of a recessive allele is not completely masked by the dominant allele.
E.g. Sickle cell Anaemia:
* It affects haemoglobin in red blood cells.
* It causes the red blood cells to distort when the blood is deoxygenated.

This is an allele in humans which if inherited in the homozygous recessive form gives rise to a condition
called sickle cell anaemia.
A A
a) Normal allele: Hb Hb ( do not have sickle cell anaemia - Dominant)
s s
b) A sufferer: Hb Hb ( severe anaemia - Homozygous recessive)
A s
c) Sickle-CelI trait Hb Hb ( mild symptoms of anaemia - Heterozygous) (not completely
dominant over recessive
allele)

Incomplete dominance in plant species

In a certain plant species (snapdragons), a red flowered individual when crossed with a white flowered
individual, will produce pink flowered offspring. If these flowers are self pollinated, the pink flowered
plants will produce an F2 generation with flowers in the ratio of 1 red: 2 pink: 1 white.

This is incomplete dominance, where the heterozygote produces a condition intermediate between those
produced by the two homozygote. Neither gene nor allele is completely dominant over the other.

P1 RR X rr

(red) (white)

Gametes R r
F1

Self pollination
P2
Gametes R r

R RR Rr
 r Rr rr

F2 phenotypes
1RR : 2Rr :1rr
red pink white

CO-DOM I NANCE
If both genes in a pair produce their effects in an individual, the alleles are called co-dominant. In
some cases a single characteristic such as blood group in humans is controlled by one gene which
has 3 alleles. They can be represented as follows:
A for blood group A (presence of A - antigen
B for blood group B (presence of B - antigen
O for blood group O (no antigen present)

• Alleles A and B are dominant to allele O

• Alleles A and B are co-dominant.

There are four phenotypic blood groups. A, B, AB, and O. These blood groups are controlled by a
single gene which is normally represented by the letter I. The four blood group phenotypes have the
following genotype.

Phenotype Genotype

Blood group A I AI A, I A I 0

Blood group B IB IB, IB I0

Blood group AB IA IB

Blood group O I0 I0

Example: a woman with blood group A and a man with blood group B with three children - one with
blood group O, the second child with blood group A and the third one with blood group B. Explain
this pattern of inheritance with a diagram

Solution:
Parental phenotypes Parental genotypes

blood group A X blood group B

A 0 B 0
I I x I I

Gametes
IA I0

IB IA IB IB I°

I° IA I0 I0 I0
13

A B A B
Offspring genotypes: I I , I I°, I I°, I° I°
Offspring phenotypes: blood group AB, A, B and O

Co-dominance therefore refers to two genes which are pairing in homologous chromosomes
with equal strength. None of them is dominant over the other.

COMPLETE DOMINANCE - This is a condition where there are two types of genes, a dominant and
a recessive one. The dominant gene will completely show overpower the presence of the recessive gene.

MUTATIONS
A mutation is a sudden change in a gene or a chromosome, which alters the way in which it controls
development.
* Any change in a gene or a chromosome usually has a harmful effect on the cell in which it
occurs.
* If the mutation occurs in a gamete, it will affect all the cells of the individual which develops
from the gamete. This will cause the whole organism to be affected.
* If mutation occurs in a body cell, it will affect only those cells produced by mitosis from the
affected cells. E g Skin cancer

There are two types of mutations.

1. Gene mutation: A gene mutation changes the sequence of bases. This may result in a change of
sequence of amino-acids. These mutations are small and may involve just one base. The gene will then
produce a different type of protein with corresponding effects in the organism.

Gene mutation involves;

• Addition
• Deletions of one or a few base pairs
• Substitution (rearrangement) of one base pair for another within the gene

Example: Albinism

Albinism
• Results from a mutation in the genes
• Albinos are unable to produce the dark pigment melanin; which controls skin
colouration, so that the colour fails to develop.
• The Albinism allele is recessive to the pigment producing allele.

Parent Aa x A a

Male

Ga me te A a
A AA Aa

a Aa aa

If both parents carry a recessive gene for the albino characteristic, there is a 1 in 4
chance that their child will be an albino.

2. Chromosome mutations: Chromosome mutations occur during nuclear division. It result in

a zygote with too many, too few, or an abnormal mixture of chromosomes.

The changes in the number of chromosomes results from the errors occurring during cell
division in both sex cells and somatic cells. The changes in chromosome number may involve
the loss or gain of a single chromosome, a condition known as aneuploidy. Chromosomal
mutations resulting from an increase in the entire haploid sets of chromosomes lead to a
condition called euploidy / polyploidy.

Example: Down's syndrome

Down's syndrome is a condition in humans caused by a chromosome mutation during meiosis.

• During egg production, two chromosomes fail to separate so an extra chromosome is
present in the egg cell.
• Instead of the egg cell having 23 chromosomes it will have 24.
• The affected child has 47 chromosomes in his or her cells instead of the normal 46.

Types of Chromosome Mutations

0
• Inversion – whereby a region of a chromosome breaks off & rotates through 180 before
rejoining the chromosome.

E.g. A B C D E

Being inverted to

A B E D C

• Translocation – a region of a chromosome breaking off & and rejoining either on the other end of
the same chromosome or on another non-homologous chromosome.

E.g. A B C D

Translocation A B D C

OR E F G H C

• Deletion – it involves the loss of a region of a chromosome, either from the ends or internally.
This results in a chromosome being deficient in certain genes. Deletion can be lethal if it affects
the same gene loci on both homologous chromosomes

e.g A B C D

Deletion A D

• Duplication – a region of a chromosome becomes duplicated so that an additional set of genes

exists for the region of duplication. The additional region of genes may be incorporated within
or at the end of the chromosome

e.g. A B C D

Duplication

A B C D C

D
 CAUSES OF MUTATIONS
The major causes of mutations are certain chemical substances and radiation. These are called
mutagens and they include:
* Ultra-violet radiation from the sun
* X-rays, Gamma rays and beta particles from radioactive decay increases the reactivity of atoms in
DNA molecules
* Chemicals such as nitrous acid, tars, mustard gas, caffeine formaldehyde, pesticides. These chemicals
affect the replication process of DNA (i.e. by increasing the probability of mistakes during replication)

DETERMINATION OF SEX IN HUMANS

* Sex is determined by the sex chromosomes X and Y
* The X and Y chromosomes differ in size; the X chromosome is much longer than the Y chromosome.
* A woman's chromosomes are both alike and are called X chromosomes. She has genotype
XX
* A man has only one X chromosome and the smaller Y chromosome. He has the genotype
XY
* When meiosis takes place in the female ovary, each ovum receives one X chromosome,
so all the ova are the same., i.e. X X,
* Meiosis in the male testes results in 50% of the sperm getting one X and 50% getting one Y
chromosomes.
* If an X sperm fertilizes the ovum, the zygote will be XX and grow into a girl.
* If a Y sperm fertilizes the ovum, the zygote will be XY and grow into a boy.

Female XX Male XY

Male
Gametes X Y

X XX XY

X XX XY

Female female male

Half the children will probably be male, and the other half female.
Femal
e SEX LINKAGE
* The X and Y chromosome do not only determine sex, they have other genes on them.
* Some genetic disorders affect many 'more males than females. Example: Hemophilia and colour
blindness. These diseases are called sex linked diseases.
* Sex linkage results from the fact that the X chromosome is longer than the Y
chromosome. The presence of a recessive allele on a region of an X chromosome, which
does not have a corresponding region on the Y chromosome, will result in the appearance
of the recessive trait in the phenotype. This is why sex-linked recessive conditions appear

only in males and not females.

HAEMOPHILIA
• It is a human disease in which blood is slow to clot.
• The gene controlling the condition is situated on the X chromosome in the non-overlap region
with the Y chromosome,
• The genes appear in two forms; normal (dominant) and haemophilia (recessive).

If a carrier haemophiliac female marries a normal male and has children, then the likely chances of the
children having haemophilia can be calculated and predicted as follows;

Let: H represent normal allele for blood clotting (dominant)

h represent allele for haemophilia (recessive)

XX represent female chromosomes

XY represent male chromosomes

Gamete XH Xh

H H H h
XH X X X X

Y X H Y X hY
 H H H H h
Offspring genotype X X X Y X Y
h
X Y

Offspring phenotype Normal Female Normal male Carrier Female Haemophiliac Male

The genetic diagram shows that 1 in 4 of the offspring could be haemophiliac and this could be a male
child. Females can only be carriers (a carrier is someone who has a recessive gene in their cells but has a
H h
normal phenotype).E.g. A woman with the genotype X X seems perfectly normal and her blood clots in
the usual way.

There are only two possible genotypes for a man. This is because the Y chromosome does not have a
haemophilia or blood clotting gene of any kind.

Genotype Phenotype

H h
X Y Normal

h
X Y Haemophiliac

VARIATION
Variation is the degree of differences between a set of parents and off-springs. These variations could be
inherited or due to external factors; e.g. temperature, light, and moisture for plants.
Types of Variation
• Discontinuous Variation
In a population there are certain characteristics which show a limited form of variation. Discontinuous variation
produces individuals showing clear cut differences with no intermediates in between them.
Examples
▪ The blood groups in humans (A,B, AB, O)
▪ The wing length of drosophila & sex in animals and plants (males & females)
▪ Sex is inherited in a discontinuous way, it cannot be altered.

• Continuous Variation
In continuous variation the characteristics in a population show a complete gradation (progression) from one extreme
to other without any break. Characteristics resulting in continuous variation are produced by the combined effects of
many genes & environmental factors.
Examples
▪ Height
▪ Weight
▪ Colour of organism
▪ intelligence

Natural Selection
Natural selection is the process whereby the natural environment favors those organisms showing the best adapted
phenotypic variations. Natural selection eliminates those individuals that cannot these challenges of their
environment. These organisms pass their genes onto the next generation, and the new offsprings are tested by the
environment. These process continuing over generations means that the genotype & phenotype of these species can
change considerably.

Theory of Evolution (Darwin/Wallace)

The development of differentiated organisms from pre-existing (less differentiated) organisms over the
course of time or is the gradual change of species over time.
The theory proposes that the species change with time. It states that the first living things were quite
simple in structure less varied than at present. It is argued that these simple creatures gave rise to
successive generations, some of which were slightly different & sometimes more complex than their
ancestors.

Natural Selection means that nature chooses (selects) those organisms best fitted for survival.
A scientist (Charles Darwin) argued that certain variations help an organism to survive in the struggle for
existence while other variations do not. In each batch of offsprings, favorable variations such as strength
& stamina are more likely to win the competition for food, escape from predators & withstand diseases
than their weaker fellows.
As a result organisms with favorable variations are likely to survive longer & reproduce more often than
those with unfavorable variations. Darwin called this “SURVIVAL OF THE FITTEST”
Survival of the fittest means that in the struggle for existence the fittest (those with favorable variations)
will survive while those with unfavorable variations die or are limited in number.

The essential features of the theory Darwin put forward are:

1. Overproduction of offspring - all organisms produce large numbers of offspring which if they
survived would lead to a geometric increase in the size of any population.
2. Constancy of numbers - Despite the tendency to increase numbers due to overpopulation of
offspring, most populations actually maintain relatively constant numbers. The majority of offspring
must therefore die, before they are able to reproduce.

3. Struggle for existence - Darwin decided on the basis of 1 and 2 above that members of a species were
constantly competing with each other in an effort to survive, in this struggle for existence only a few
would live long enough to breed.

4. Variation among offspring — the sexually produced offspring of any species show individual
variations so that generally no two offspring are identical.

5. Survival of the fittest by natural selection — among the variety of offspring would be some better
able to withstand the prevailing conditions than others. That is some will be better adapted ('fitter') to
survive in the struggle for existence. These types are more likely to survive long enough to breed.

6. Like produces like - Those which survive to breed are likely to produce offspring similar to
them. The advantageous characteristic which gave them the edge in the struggle for existence are
likely to be passed to the next generation.

7. Formation of new species - Individuals lacking favourable characteristics are less likely to survive
long enough to breed. Over many generations their numbers will decline. The individuals with
favourable characteristics will breed with subsequent increase in their numbers. The inheritance of one
small variation will not by itself, produce a new species. However, the development of a number of
variations in a particular direction over many generations will gradually lead to the evolution of a new
species.

Artificial selection

Selection is the process by which those who appear physically, physiological a behaviorally better
adapted to the environment survive & reproduce.
When a population increases in size, certain environmental factors become limiting, such as food
availability in animals & light in the case of plants.
This produces competition for resources between members of the population. Those organisms
exhibiting characteristics which give them a competitive advantage will obtain the resource, survive &
reproduce. Organisms without characteristic are at a disadvantage & become extinct.
The basis of artificial selection is the isolation of natural population & selective of organisms showing
characteristics which have some usefulness to humans.

Artificial selection is therefore the selective breeding of organisms to emphasize their desirable features.
These features may result in increased milk or meat yield, or perhaps resistance to high or low
temperatures, diseases or drought.

♣ Breeding programmes are important to improve agriculture, livestock or crop plants

♣ Animal breeders will select cows for their high milk yield, sheep for their wool quality.
♣ Plant breeders will select varieties for their high yield and resistance to fungal diseases. It is a practice
by farmers all over the world to produce plants and animals of economic importance.

ADDITIONAL INFORMATION
Mitosis occurs in a sequence of events, they are divided into four distinct stages

1. Prophase
a) Early Prophase – the DNA has already replicated during interphase & the chromosomes
begin to condense. Each chromosome is a double structure made from two genetically
identical chromatids.
b) Late Prophase – the nuclear membrane has disappeared & the spindle (microtubules) has
started to develop.
2. Metaphase
The nuclear membrane has disappeared & the chromosomes arrange themselves at the equator
(middle) of the spindle

3. Anaphase
The chromatids are pulled apart & move to opposite poles

4. Telophase
Cytokinesis (cytoplasmic division) is beginning
SAMMARY OF MITOSIS & MEIOSIS