GENETICS

Genetics is the study of the mechanisms involved in the control, transmission and expression of
inherited characteristics.

VARIATION- This refers to the differences in characteristics among organisms of the same
species.

TYPES OF VARIATION

I. continuous variation
II. discontinuous variation.

Continuous variation-This is a type of variation where a characteristic has many intermediate

forms between two extremes. Examples of characteristics that show continuous variation in
humans are height, complexion and body mass/size. The causes of continuous variation include:
Control by many genes/control by many pairs of alleles/polygenic control Influence by
environmental factors such as diet and climate.

Discontinuous variation- This is a type of variation where a characteristic has clear-cut

different groups (distinct groups), with no intermediate forms. Examples of characteristics which
show discontinuous variation in humans are sex, blood groups and colour of eyes. The causes of
discontinuous variation include: Control by one or few genes (control by one or few pairs of
alleles) and Lack of environmental influence.

CHROMOSOMES AND GENES

Chromosomes are DNA threads found in the nucleus and responsible for storage of inherited
information in the form of genes. Each chromosome is made of two strands called chromatids
which are linked to each other at the centromere. Chromatids found on the same chromosome are
called sister chromatids.

Figure 1: Simplified Structure of a Chromosome

CHROMOSOME NUMBERS

The number of chromosomes in each cell of a particular species of organisms is fixed. There are
two kinds of cells in organisms that reproduce sexually,

Page 1 of 11
 i. somatic cells (body cells)
ii. gametes (sex cells)

The number of chromosomes in each somatic cell is called the diploid number and its symbol is
2n. The number of chromosomes in each gamete is called the monoploid or haploid number and
its symbol is n. The haploid number is always half of the diploid number in a given species.

The following table gives examples of species and their diploid and haploid numbers.

Species Diploid Number (2n) Haploid number (n)

Human being 46 23

Rat 40 20

Fruit fly 8 4

Onion 16 8

Tomato 24 12

Chromosome Types

There are two types of chromosomes

i. sex chromosomes
ii. autosomes (non-sex chromosomes).
Every somatic cell has two sex chromosomes while every gamete has only one sex
chromosome.

NUCLEAR DIVISION (MITOSIS AND MEIOSIS)

Nuclear division or cell division is the process by which new cells (daughter cells) are formed
from existing cells (parent/mother cells). There are two types of nuclear division,

i. mitosis
ii. meiosis.

(i) Mitosis

This is a type of cell division that results in the formation of two daughter cells that are diploid
and genetically identical from one diploid parent cell

Figure 2: Simple Illustration of Mitosis

Page 2 of 11
STAGES OF MITOSIS

Mitosis involves four stages, namely

1. prophase,
2. metaphase,
3. anaphase
4. telophase.

Prophase

 The following events take place during prophase

 Movement of centrioles to opposite poles of the cell
 Appearance of spindle fibres from the centrioles
 Disappearance of the nuclear membrane and nucleolus
 Chromosomes become visible by coiling and shortening

Metaphase

 During metaphase the following events take place

 Centromeres of chromosomes line up along the equator of the cell
 Spindle fibres from the centrioles attach themselves to the centromeres of the
chromosomes

Page 3 of 11
Anaphase

 During anaphase the sister chromatids are separated from each other and pulled to
opposite poles, centromere first.

Telophase

 The following events take place

 The chromatids arrive at the poles and each of them becomes a complete chromosome
 The spindle fibres disappears
 Chromosomes disappear by unwinding and becoming longer
 The nucleolus and nuclear membrane reappear

Page 4 of 11
Importance of mitosis

 Growth
 Regeneration
 Asexual reproduction e.g. binary fission in Amoeba
 Maintaining genetic stability
 Replacement of cells

(2) MEIOSIS (REDUCTION DIVISION)

This is a type of nuclear division where one diploid parent cell produce four daughter cells that
haploid and genetically different from the parent cell. There are two divisions that take place
during meiosis. These are meiosis I (first meiotic division) and meiosis II (second meiotic
division). Each of the two divisions is made of prophase, metaphase, anaphase and telophase.

Figure 3: Simple Illustration of Meiosis

MEIOSIS I

Prophase I

 Movement of centrioles to the poles of the cell

 Appearance of spindle fibres from the centrioles
 Disappearance of the nuclear membrane and nucleolus

Page 5 of 11
  Chromosomes become visible by coiling and shortening
 Homologous chromosomes pair up. These are chromosome pairs having the same length,
same gene loci and an identical position of the centromere. Each member of this pair
comes from a different parent.
 Crossing over takes place between chromatids of homologous chromosomes. This is a
process during which the chromatids of homologous chromosomes get entangled and
exchange pieces. The point of crossing over is called a chiasma (plural=chiasmata). This
process contributes to genetic variation. The following diagram demonstrates crossing
over in homologous chromosomes

Metaphase I

 Centromeres of homologous chromosomes line up along the equator of the cell

 Spindle fibres from the centrioles attach themselves to the Centromeres of the
homologous chromosomes

Anaphase I

 During anaphase I the homologous chromosomes are separated from each other and
pulled to opposite poles, centromere first. The chromosomes are separated randomly.

Page 6 of 11
 This is called random assortment of chromosomes and is one of the processes that
contributes to genetic variation.

Telophase I

 The chromosomes arrive at the poles

 The spindle fibres disappear
 Chromosomes disappear by unwinding and becoming longer
 The nucleolus and nuclear membrane reappear

MEIOSIS II

 The events that take place during meiosis II are similar to those in mitosis.

Importance of meiosis

 Formation of gametes (sex cells)

 It contributes to genetic variation due to crossing over and random assortment of
chromosomes

Monohybrid Inheritance- This is the study of one characteristic controlled by only one gene.

THE LANGUAGE OF GENETICS

Chromosome: A chromosome is a DNA thread wrapped in protein. Chromosomes carry

inherited information from one generation to the next

Page 7 of 11
Gene: This is a portion/segment of DNA controlling one particular characteristic e.g. the portion
of DNA controlling the inheritance and expression of eye colour is called the gene for eye
colour. Note that some characteristics are controlled by more than one gene. This is called
polygenic inheritance. Generally, each gene controls the synthesis of one polypeptide molecule.

Allele: This is an alternative form of a given gene. Each sexually-reproducing organism has two
alleles for each of its characteristics. The alleles may be similar or different. One of the alleles is
inherited from the male parent while the other one is from the female parent. Alleles which have
more than two alternative forms are called multiple alleles e.g. the gene for blood group in
humans has three alleles, namely IA, IB and IO. Even in this case, each human being can have
only two of the alleles.

Genotype: This is the combination of alleles an organism has for a given characteristic. It is also
defined as the genetic composition of an organism for a particular characteristic. The genotype is
normally written using a pair of letters, each representing one allele e.g. AA, Aa and aa.

Phenotype: This is the out-ward expression of the genotype in the form of physical
characteristics of an organism.

Dominant: A dominant allele is one that gets expressed in the phenotype to the exclusion of
another. It is always represented by a capital letter e.g. A, B, T and so on

Recessive: A recessive allele is one that is over-shadowed in the phenotype by the presence of a
dominant allele. It is always represented by a small/lowercase letter e.g. a, b, t and so on.

Codominance: Codominant alleles are two different alleles which are equally expressed in the
phenotype when present together e.g. the alleles IA and IB for blood group

Homozygous: This a type of genotype where both alleles are the same i.e. both dominant or both
recessive e.g. AA, aa, BB, bb and so on. Organisms which are homozygous are called
homozygotes or pure breeds.

Heterozygous: This is a type of genotype where the two alleles are different, such as one allele is
dominant while the other is recessive e.g. Aa, Tt and Bb. Organisms which are heterozygous are
called heterozygotes or hybrids.

Blood Group inheritance in Humans

Blood group inheritance in humans is controlled by three alleles, namely IA, IB and IO.

Both IA and IB are dominant over IO but are codominant to each other. There are six possible
genotypes and four possible phenotypes, as shown in the following table:

Page 8 of 11
 GENOTYPES PHENOTYPES

IAIA Group A

IAIO Group A

IBIB Group B

IBIO Group B

IAIB Group AB

IOIO Group O

Points to take note of

 When one parent is group AB, a couple can never have a group O child.
 When one parent is group O, a couple can never have a group AB child.
 When one parent is homozygous group A (IAIA) or homozygous group B (IBIB), a couple
can never have a group O child.
 Group A and group B parents can have a group O child as long as they are heterozygous
(IAIO or IBIO).
 A couple where one parent is heterozygous group A (IAIO) and the other heterozygous
group B ( IBIO) can have a child of any blood group.

Sex Inheritance in Humans

Sex inheritance in humans is controlled by two chromosomes, X and Y, which are called sex
chromosomes. The X chromosome is longer than the Y chromosome. A person with genotype
XX is female while a person with genotype XY is male. At each conception, the chances of
having either a male or a female child are equal, as illustrated by the following diagram.

Sex Linkage

This is the occurrence of a non sex gene on a sex chromosome. A non-sex gene found on a sex
chromosome is said to be sex-linked. If the gene is on the X chromosome, it is said to be X-
linked. Examples of X-linked conditions in humans are haemophilia and red-green colour

Page 9 of 11
blindness. These X-linked conditions do not occur on the Y chromosome because they are found
on the extra (non-homologous) portion of the X chromosome.

Haemophilia

This is an inherited disease where a human being bleeds for longer periods than normal due to
poor clotting of blood. It is caused by lack of blood clotting factors known as factor VIII and
factor IX. The allele for haemophilia (h) is recessive while the allele for normal blood clotting
(H) is dominant. There possible genotypes and phenotypes for haemophilia are given below:

XHXH normal female

XHXh normal carrier female

XhXh haemophilic female

XHY normal male

XhY haemophilic male

Red-green Colour Blindness

This is a genetic disorder where a person can not distinguish between the colours red and green.
The allele for red-green colour blindness(r) is recessive while the allele for normal vision (R) is
dominant. There possible genotypes and phenotypes for red-green colour blindness are given
below:

XRXR normal female

XRXr carrier female

XrXr colour blind female

XRY normal male

XrY colour blind male

MUTATIONS

A mutation is a sudden spontaneous change in the structure of a gene or number of

chromosomes. A gene, chromosome or an organism which has undergone a mutation is called a
mutant. Any substance that causes a mutation is called a mutagen or mutagenic factor. All
mutagens are also carcinogens (cancer-causing agents). Examples of mutagens are chemicals,
radiation and viruses. There are two types of mutations, namely gene mutations and chromosome
mutations.

I. Gene Mutation: This is a change in the chemical structure of a gene. Examples of

gene mutations in humans are albinism, sickle cell anaemia, red-green colour
blindness and haemophilia.

Page 10 of 11
 II. Chromosome Mutation: This is a spontaneous change in the number of chromosomes.
An example of chromosome mutation in humans is Down’s syndrome. Down’s
syndrome is a genetic disorder where a human being has 47 chromosomes instead of
46. The signs and symptoms of Down’s syndrome are:
 Mental retardation
 Round face with squinty eyes, rather like a Mongolian. That is why the disease is
sometimes called mongolism.
 Abnormally short limbs.
 Six digits (toes or fingers) on the limbs.

Chances of having Down’s syndrome babies are higher in women who have children when they
are old (over 35 years).

NB Mutation is a source of variation within a population.

SELECTION

This is a process by which a selection pressure acts on population, eliminating some individuals
while allowing the fittest individuals to survive. The organisms who survive the selection process
pass on their genes to their offspring, thereby ensuring continuity of their characteristics. There
are two types of selection, namely natural and artificial selection. Natural selection occurs
through natural means such as disease, competition, predation and climatic changes. Artificial
selection is carried out by human beings e.g. selective breeding of animals. Natural selection is a
possible mechanism for evolution. An example of evolution brought about by selection is the
development of antibiotic-resistant bacteria.

GENETIC ENGINEERING

This is the transfer of genes from one organism to another one of the same species or different
species. An organism carrying a modified gene or a gene transferred from another organism is
called a genetically modified organism (GMO).An example of the application of genetic
engineering is the making of human insulin using bacteria. In this case, the gene for human
insulin is transferred to the bacteria and the bacteria begin making the human insulin. This
insulin is then isolated, purified and put in appropriate containers for diabetics to utilize.

Page 11 of 11