Genetics: study of heredity using genes.

Inheritance is the transmission of genetic information from one generation to the next,
leading to continuity of the species and variation within it.

Hereditary characteristics are contained inside the body (somatic cells). They are carried
by genes. Physical characteristics such as eye colour, skin, and hair are determined by the
heredity. Mental traits such as intelligence, personality, behaviour, and preferences are
also influenced by heredity.

Key definitions
Chromosome A thread of DNA, made up of genes.
Allele An different forms of a gene. Pairs of alleles occupy the same
relative positions on chromosome pairs.
Gene Basic unit of heredity. A section of DNA, which codes for the
formation of a protein controlling a specific characteristic of the
organism.
Haploid A nucleus containing a single set of unpaired chromosomes, e.g.
nucleus in sperm and ova (eggs). In humans, the haploid number is 23.
Diploid nucleus A nucleus containing pairs of chromosomes, e.g. in somatic
(body) cells, In humans the diploid number is 46.
Genotype The genetic make-up of an organism, e.g. Tt, where T and t are
alleles of a gene.
Phenotype The physical make-up or characteristics visible in an organism,
controlled by the genotype, e.g. a tall plant or a dwarf plant.
Homozygous Having a pair of identical alleles controlling the same
characteristics, e.g. TT, where T=tall. The organism will be
pure-breeding for those characteristics.
Heterozygous Having a pair of dissimilar alleles for a characteristic, e.g. Tt.
Dominant A gene, e.g. T, that always shows in the phenotype of an
organism whether the organism is heterozygous (Tt) or
homozygous (TT).
Recessive A gene, e.g. t, that only has an effect on the phenotype
when the organism is homozygous (tt)

Relationship between a gene and a chromosome

Within almost every somatic cell of the human body, there are tiny threads like structures
known as chromosomes. They are made up of a chemical compound known as DNA
(Deoxyribonucleic Acid). Chromosomes are found inside the nucleus which appears to be
a dense body before cell division and when the cell starts dividing, chromosomes appear.
Members of a pair are called homologous chromosomes (homologous meaning they
must have the same length, carry the same kinds of genes and have the same shape). One
of the homologous chromosomes is from the father and the other from the mother.

Each chromosome is made up of two strands known as chromatids. All the chromatids are
seen at cell division when chromosomes become shorter and thicker.
Genes are found along this chromosome and each chromosome has several genes and
each gene is responsible for a particular characteristics. Since chromosomes appear in

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pairs, genes for a particular trait (characteristic) will also appear in pairs. One of such a
pair which controls a particular characteristic is called an Allele.

Structure of a chromosome

Cell division – Mitosis and Meiosis

Mitosis is a nuclear division giving rise to genetically identical cells in which the
chromosome number is maintained by the exact duplication of chromosome.
Meiosis is a reduction division in which the chromosome number is halved from
diploid to haploid.

Difference between mitosis and meiosis

Mitosis
Meiosis
-it is a duplicative cell division. -It is a reductive cell division.
-Forms somatic/body cells -Forms germ/sex cells
-Forms 2 diploid (2n) cells. -Forms haploid (n) gametes (sex cells)
-Responsible for the growth of an -Responsible for reproduction
individual. -completed after two divisions
-Completed after one division -Homologous chromosomes pair in prophase
-No pairing of homologous chromosomes. 1
-two cells formed -four cells formed

1. Mitosis

Mitosis produces two daughter cells that are identical to the parent cell. If the parent cell
is haploid (N), then the daughter cells will be haploid. If the parent cell is diploid, the
daughter cells will also be diploid.

n n

2n 2n

This type of cell division allows multicellular organisms to grow, asexual reproduction,
cell replacement and repair damaged tissue. It involves only the somatic/body cells.
Mitosis is triggered by a mitogen (an agent inside the cell). There is a dormant/resting
stage known as Interphase, mitosis consists of four stages; Prophase, metaphase,
anaphase and telophase

Stages of mitosis: InterphaseprophaseMetaphaseAnaphaseTelophase

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 1. Interphase:

 Normally chromosomes are not visible.

 DNA duplicate (copy itself)
 The cell gathers up energy store to carry out the mitosis process

2. Prophase: Chromosomes become visible and they contain DNA molecules.

 As prophase continues, the chromosomes coil, become shorter and fatter.
 Each chromosome forms a sister chromatid, each sister chromatid is held
at the centromere
 Spindle Fibres start forming in the cytoplasm, with an equator and a pair
of Centrioles at each pole.
 The nuclear membrane starts to breakdown.

3. Metaphase: spindle fibres align the duplicated chromosome along the centre.
This is to allow anaphase stage be successful.

4. Anaphase: spindle fibres shortens and pull each sister chromatid to the opposite
side/direction.

5. Telophase: Chromatids reach the poles of the cell, uncoil and become thinner,
loosing the ability to visible. (Chromosomes reform by an uncoiling, they become
thinner and disappear).

 -Spindle fibres disintegrates

 -nucleic membrane develops under a set of chromatids.
 At this point in animal cells, the cytoplasm between two nuclei constricts
(Become tight or as if tight) and the two cells are formed. This stage is
followed by distribution of organelles to form 2 potential daughter cells
followed by development of loosely cells referred to as cytokinesis.

2. Meiosis

Meiosis is a reductive cell division which reduces chromosomes to half and produces
sex/germ cells. It is a cell division that produces reproductive cells in sexually
reproducing organisms; the nucleus divides into four nuclei each containing half the
chromosome number (leading to gametes in animals and spores in plants). All body cells

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contain a constant number of chromosomes e.g. human beings contain 46 chromosomes.
Meiosis leaves the chromosomes in a haploid state (n) and it results in 23 chromosomes.
It will be after fertilization that the chromosomes will become 46 again (with 23 pairs
from the ovum and the sperm).

To have four daughter cells, there is need for two cell division in meiosis at the end of the
first cell division there is going to be 2 daughter cells which will divide to form two other
daughter cells the stages are similar to mitosis. Meiosis produces daughter cells that have
one half the number of chromosomes as the parent cell.

2N N

Meiosis enables organisms to reproduce sexually. Gametes (sperm and eggs) are haploid.
Meiosis involves two divisions producing a total of four daughter cells.

Prophase: this is the longest stage of meiosis and involves the following;

 The nucleolus breaks down along with the nucleus membrane.

 Chromosomes shorten and become thick
 Unlike in mitosis, the homologous (similar chromosomes) pairs of
chromosomes lie together.
 As prophase continues, the chromosomes coil around each other

 Crossing over occurs-homologous chromosomes exchange parts, such that

one sister chromatid has a portion of the other.

Crossing over

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Metaphase 1: paired chromosomes move to the equator of the spindle formed as in
mitosis.

 They become arranged, with the centromeres of the homologous pairs pointing
towards opposite poles.

Anaphase 1: homologous chromosomes move apart towards opposite poles of the

spindle. In this stage a whole chromosome is moved to the opposite side not as
chromatid.

Telophase 1: (this stage is absent in some species) Chromosomes reach the poles and the
cell constricts forming two new daughter cells as in mitosis.

 The division has halved the chromosomes of the original

 Nuclear membranes may re-form and a short resting space follows but occasionally
the cell enters the metaphase 2 stage.

Second meiotic division

Metaphase II: a new spindle forms in each new cell and two chromosomes line up at the
equator.

Anaphase II: Chromatids of the chromosomes in each new cell separate (as in mitosis)
such that only one chromatid is moved to the opposite sides

Telophase II: Nucleus membrane reforms resulting in Four new cells form, each with
half the chromosomes compared to the original cell.

Gene expression
The genetic makeup or composition of an organism is known as a genotype. The
genotype makes up the physical appearance or phenotype (all the visible characteristics
of an individual). The phenotype involves all the structural, physiological and functional
characteristics of an individual. For example hair colour.
A gene is made up of two alleles;

i. BB: a homozygous dominant allele

ii. Bb: homozygous recessive allele

iii. Bb: heterozygous dominant (where ‘B’ can be an allele/gene expression for black hair
and ‘b’ could be for brown hair).
Therefore ‘BB’ and ‘Bb’ could mean that an individual has black hair and a ‘bb’
individual has brown hair.

The BB/Bb/bb are the genotype and the brown/black hair is the phenotype associated
with the corresponding genotypes.

The expression of genes depends on the dominancy/recessivity of an allele.

a. A dominant allele is often expressed at the expense of a recessive one. E.g. if ‘B’ is
dominant over ‘b’, then a gene of ‘Bb’ will lead to a black phenotype since ‘B’ for

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 black is dominant over ‘b’ for brown. Two recessive alleles ‘bb’ will be equally
expressed e.g. for ‘bb’ a brown phenotype will be seen. This is known as complete
dominance. Complete dominance usually gives a 3:1 ratio (where 3 represent a
dominant allele for a particular phenotype and 1 representing a chance for a recessive
allele for a particular phenotype).
b. In blood group antigens (any substance (as a toxin or enzyme) that stimulates the
production of antibodies) ‘A’ and ‘B’ are equally expressed such that an individual
with the alleles for both ‘A’ and ‘B’ has blood group ‘AB’. None of the two is
dominant over the other. This is known as Co-dominance/incomplete dominance,
since none of the alleles dominate each other.
c. In some situations e.g. in colours of plant flowers only one allele will code for
enzyme production. I.e. enzyme for colour. However such an allele may not be fully
expressed as such an intermediate colour can be obtained as a phenotype. This usually
produces a heterozygous offspring who does not resemble the phenotype of the
parents. The following shows the true breeds of a red flower “RR” and “rr”
genotypes.

E.g. RR (red) + rr (white)

Off spring Rr Rr Rr Rr (All pink in colour)

This has produced a heterozygous offspring of genotype ‘Rr’ as shown above but pink
colour will be expressed as a phenotype because ‘R’ is not fully expressed resulting in
only a minimum amount of red colour being produced onto white platform to produce a
pink colour.

Mutation
In simple terms a mutation is a change or alteration in form or qualities.
 A Mutation occurs when a DNA gene is damaged or changed in such a way
as to alter the genetic message carried by that gene
For example some cattle with four normal legs can produce an offspring with five legs.
Any offspring produced by an individual with a mutation, showing the new
characteristics is known as a mutant. Mutations are the basis of discontinuous variation.
Mutation can be good and sometimes can be deleterious or dangerous. Mutation can be
induced by factors known as mutagens/mutagenic agents known to be X-ray, gamma
rays, ultra violet rays, cosmic rays (from the outer space) and chemicals such as gas and
colchicines. Some mutations can lead to cancer.

Types of Mutation
There are two main types; Gene and Chromosome mutation. Mutation usually occurs
when the sex cells are being formed during meiosis.

1. Gene Mutations
They are important in generating evolutionary changes and they affect the nucleotide
(the basic structural unit of nucleic acids (DNA or RNA)) structure of the gene. It is
usually a result of a chemical change in an individual gene. The change may be very
small, but it may have a severe effect on an individual. Examples include sickle cell
anaemia and cystic fibrosis, PKU (Phenylketonuria), albinism. Sickle cell anaemia is
a recessive genetic disorder that causes red blood cell to have a long and a curved
shape. These abnormal blood cells clog up tiny blood vessels and cut off oxygen
supply to certain areas and thus leading to poor vision, tiredness, muscle pains, slow
growth and even death can result. A person who is a carrier (has one gene) cannot

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suffer severe symptoms but if they have a child who inherits two sickle cell genes
from each parent, sickle-cell anaemia results.

2. Chromosome mutations
This involves a major change in one or more chromosomes. For example an
individual may lack a particular chromosome or have an extra chromosome. Down
syndrome is caused by the presence of an extra chromosome in the somatic/body
cells. The resulting offspring has 47 chromosomes instead of the normal 46 human
chromosomes. The extra chromosome comes from the mother or the father. During
meiosis an extra chromosome may result when one of the duplicated chromosomes
does not separate. The extra chromosome upsets he usually orderly development of
the body and the brain. Chromosomal mutations are usually lethal and sometimes
useful because the involve chromosomes being moved from the locations or even
changing during independent assortment or crossing over.

Factors that lead to mutations (mutagens)

1. Chemical Mutagens change the sequence of bases in a DNA gene in a number of

ways;

2. Radiation High energy radiation from a radioactive material or from X-rays is

absorbed by the atoms in water molecules surrounding the DNA. This energy is
transferred to the electrons which then fly away from the atom. Left behind is a free
radical, which is a highly dangerous and highly reactive molecule that attacks the
DNA molecule and alters it in many ways.
Radiation can also cause double strand breaks in the DNA molecule, which the cell's
repair mechanisms cannot put right.

3. Sunlight contains ultraviolet radiation (the component that causes a suntan) which,
when absorbed by the DNA causes a cross link to form between certain adjacent
bases. In most normal cases the cells can repair this damage, but unrepaired dimers of
this sort cause the replicating system to skip over the mistake leaving a gap, which is
supposed to be filled in later.
Unprotected exposure to UV radiation by the human skin can cause serious damage
and may lead to skin cancer and extensive skin tumours.

4. Spontaneous mutations occur without exposure to any obvious mutagenic agent.

Sometimes DNA nucleotides shift without warning to a different chemical form
which in turn will form a different series of hydrogen bonds with its partner. This
leads to mistakes at the time of DNA replication.