VARIATION

Organisms of the same species/ population usually differ phenotypically from each other.
Variation is therefore the difference in characteristics shown by organisms belonging
to the same natural population or species. It occurs as a result of interaction between the
genes and the environment. This difference may be as a result of difference in the
environment (environmental variation) or difference in genes (genetic variation).

ENVIRONMENTAL VARIATION
This is variation due to some factor of the environment changing the phenotypes of
organisms of a given population e.g. lack of mineral salts, prolonged exposure to extreme
sunlight, poor nutrition, diseases, etc

GENETIC VARIATION
This is variation that occurs within a population due to difference in genetic makeup of
organism hence it is therefore inherited. Genetic variation exists in two forms;
 Continuous variation
 Non continuous variation

CONTINUOUS / QUATITATIVE VARIATION

This is where a characteristic within a population shows a complete gradation from
one extreme to another with no break. This form of variation produces individuals
showing no clear cut difference with a wide range of intermediates. The frequency
distribution for such a characteristic is a normal distribution curve/histogram.

Mean
Number of individuals

Phenotypic characteristic

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Characteristics that vary continuously are controlled by many genes (polygenes). The effect
of each gene however is very small to make a significant effect on the phenotype but the
combined effect of the many genes is significant. The infinite variety produced by the
combined effect of these genes produces a wide variety of phenotypes that marginally differ
since the genes also express themselves to different degrees in different individuals due
to environmental effect.
Such characteristics are measurable/ quantitative and they include
 Height of individuals
 Weight of individuals, fruits, etc
 Skin colour
 Size of fruits, leaves, stem etc
 Milk production.
Transmission of characteristics that are controlled by many genes is called polygenic
inheritance.

DISCONTINUOUS/ QUALITATIVE VARIATION

This is where a characteristic within a population exists in distinct form with no
intermediates producing individuals showing a clear cut difference. The frequency
distribution of such characteristics is a bar graph.

expression is not affected by the

environment.
The characteristics are therefore
qualitative (can’t be measured) since
phenotypic variation is restricted to certain
clear cut characteristics e.g.
 Sex in animals and plants
 Wing length and eye colour in
drosophila
 Body colour in Biston betularia
 Colour blindness, blood groups,
haemophilia, sickle cell anaemia
Such characteristics are controlled by one
and baldness in humans
or two genes which may have two or more
allelic forms and their phenotypic
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Differences between continuous and discontinuous variation
Continuous variation Discontinuous variation
Phenotypic differences are very slight/ Phenotypic differences are discrete/clear
merge cut.
There are intermediates There are no intermediates
Characteristics are Characteristics are immeasurable/
measurable/quantitative qualitative
Phenotypes are affected by the Phenotypes are not affected by the
environment environment
Frequency distribution of a characteristic Frequency distribution of a characteristic
is a normal curve /histogram is a bar graph
Characteristics are controlled by many Characteristics are controlled by one or two
genes genes

CAUSES OF GENETIC VARIATION

a) GENE RESHUFFLING:
This refers to formation of new gene combinations and it is caused by;
 Crossing over;
Non- sister chromatids of homologous chromosomes exchange genetic material
during prophase 1 of meiosis 1 which produces new linkage groups by recombining
linked genes resulting into a variety of gene combinations within gametes produced.
 Independent assortment;
Random distribution of chromosomes amongst the daughter cells during meiosis as a
result of random orientation of chromatids of homologous chromosomes (bivalents) at
the spindle equator during metaphase I of meiosis I, and the random orientation of
pairs of chromatids during metaphase II of meiosis II which subsequently segregate
independently gives rise to a variety of possible chromosome combinations within
gametes.
 Random fertilization;
The fusion of male and female gamates is random thus any male gamete is potentially
capable of fusing with any female gamete. This gives rise to a variety of possible
genetic combinations within the zygote. Variation is increased when the gamates are
from two different individuals since genes from the two are mixed in the zygote.

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(b) MUTATIONS
A mutation is a sudden change in the amount, arrangement or structure of the
genetic material of an organism. This alters the way it controls growth and
development. This produces a change in the genotype of an organism which may
be inherited as a result; it may change the appearance of a characteristic in a
population.

Mutations occurring in germ cells during gamete formation (gametic mutations)

are inherited while those that occur in somatic cells (somatic mutations) can only
be inherited by inherited by daughter cells produced by mitosis.

Mutations cause permanent genetic variations unlike reshuffling of genes whose

genetic variations are temporary as they can be undone in subsequent generations.
Individuals or cells resulting from mutations are known as mutants.

The sudden changes in the genetic constitution of an organism are brought about
by substances called mutagens. The common mutagenic agents include the
following.
 High energy radiations e.g. ultra violet, gamma, and X rays.
 High energy particles e.g. alpha particles, beta particles, neutrons
 Cosmic radiations.
 Chemicals e.g. mustard gas, colchicine, caffeine, pesticides, formaldehyde
 Excessive heat/ temperature
TYPES OF MUTATIONS
There are two types of mutations.
 Gene mutations
 Chromosome mutations
a) GENE MUTATION;
This is a change in the structure of DNA at a single locus/in a gene. A gene is a
sequence of nucleotide which codes for a sequence of amino acids in a polypeptide.
Such a change may alter the amino acid sequence of a polypeptide formed which
affects the functionality of the protein.

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 TYPES OF GENE MUTATIONS
 Deletion;
This is a type of gene mutation which involves loss of a nucleotide or
nucleotides from the sequence and thus involves a frame shift in the translation
of mRNA

 Inversion;
This is where a nucleotide sequence breaks off from the DNA and rejoins but
reversed or inverted.

 Insertion;
This is a type of gene mutation where an extra nucleotide(s) is added to the
nucleotide sequence of DNA

 Substitution;
This is where one or more nucleotides are replaced by others.

NB: A single base deletion leads to a change in sequence of codons of mRNA

transcribed from that region which results into formation of a protein with a totally
different amino acid sequence .i.e. the frame shift in the translation of mRNA changes
the primary structure of the polypeptide where as a single base substitution only
changes the sequence of bases in a single triplet which may only alter the amino acid
at that position.

SICKLE CELL ANAEMIA

Sickle cell anaemia is as a result of a single base substitution gene mutation in the
gene that codes for formation of beta polypeptides of haemoglobin. Normal
haemoglobin (HbA) beta chains have amino acid glutamic acid at position 6 while
abnormal haemoglobin (HbS) beta chains have amino acid valine at that position.
This is because a nucleotide with adenine substituted that with thymine in the DNA
changing the triplet from CTC to CAC in the gene on the DNA molecule.
Valine is non polar and hydrophobic while glutamic acid carries a negative charge and
is polar. The presence of valine makes deoxygenated HbS less soluble. Therefore when

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HbS loses its oxygen, the molecules come out of solution and crystallise into rigid rod-
like fibres which changes the shape of the red blood cell from biconcave to sickle
shape. Hence sickle cell anaemia.
 Individuals homozygous for the gene for abnormal haemoglobin (HbS) .i.e. (whose
genotype is (HbSHbS) suffer from sickle cell anaemia because the sickle shaped
cells are continuously destroyed by the spleen so their blood has few red blood
cells hence oxygen deficit. The sickle cells tend to jam in small blood vessels and
capillaries which interrupt normal blood flow which leads to damage of body
organs, reduced immunity, weakness and fatigue, poor physical development, etc.
 Individuals homozygous for the gene for normal haemoglobin (HbA) .i.e. those
whose genotype is HbAHbA , have no sickle cell anaemia hence they are normal
 Individuals that are heterozygous .i.e. those whose genotype is HbA HbS, are
carriers but look normal since 50% percentage of haemoglobin in their body is
normal as the genes for HbA and HbS are co dominant. This heterozygous
condition is known as sickle cell trait.
NB: Someone carrying the faulty gene is far less susceptible to malaria since the
malaria parasite only multiplies inside normal red blood cells. Although the
homozygous sufferers die before reproductive age, the heterozygous carriers though
they suffer a mild form of anaemia, they have a selective advantage over non carriers
and so more likely to survive and pass their genes to the next generation in malaria
prone areas because they are resistant to malaria. Sickle shaped cells are constantly
removed from circulation and destroyed killing the plasmodium
If two people suffering from sickle cell trait have children, there is 0.25 chance
of any child being a sickler

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Other health abnormalities due to gene mutations include;
 Cystic fibrosis
 Phenylketonuria
 Huntington’s chorea
 Alkaptonuria

CHROMOSOME MUTATIONS
This is a change in chromosome structure or number. These usually affect one or
more genes and may have a more profound effect on the phenotype of an individual
compared to gene mutations

Chromosome mutations can be grouped into two .i.e.

 Those due to structural change of chromosome
 Those due to change in chromosome number

MUTATION DUE TO STRUCTURAL CHANGES

 Deletion;
This involves loss of part of a chromosome
therefore some genes are lost with it
therefore it is lethal.

 Inversion;
A section of the chromosome breaks off and rotates through 180 which then rejoins on
the same chromosome. The sequence of genes in this section is therefore reversed.

A A A
B B B
C E
C
D D D
E E C
F F
F
G G G

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  Translocation.
Here a portion of a chromosome breaks
and joins to another part of the same
chromosome another chromosome which
maybe homologous or non-homologous.

 Duplication;
This is the doubling or repeating part of
a chromosome. A gene sequence in this
section is therefore repeated.

CHROMOSOME MUTATIONS DUE TO CHANGE IN NUMBER

These are results of errors occurring during cell division (mitosis and meiosis) and are
grouped into two.
 Aneuploidy
 Euploidy (polyploidy)

ANEUPLOIDY;
 This arises due to failure of one or more pairs of homologous chromosomes to
separate during anaphase I of meiosis (non disjunction) such that the one or more
pairs of the homologous chromosomes (bivalents) move to the same pole of the cell.
Separation of the homologous chromosomes during anaphase II leads to formation
of gamete cells containing one or more chromosomes more or less. i.e. (n+1) and
(n-1).
 Fusion of either of this gamete with a normal gamete produces a zygote with an
odd number of chromosomes .i.e. (2n-1) which fail to develop and (2n+1) which
develop but with several abnormalities.

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Human conditions resulting from chromosome non disjunction include;

 Down’s syndrome / Trisomy 21

This is due to non disjunction of the two chromosomes 21 hence presence of an extra
copy. A person with this condition has 47 chromosomes in the nucleus with 3 copies
of chromosome 21 hence trisomy 21
Symptoms;
 Mental retardation, heart defects and coarse straight hair
 Short stature and relatively small skull with poor skeletal development.
 Retarded growth
 Reduced immunity to mainly ear and respiratory infections
 Squat hands with a characteristic crease which runs all way across the palm.
 Intestinal problems and leukaemia.

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 Klinefelter’s syndrome (Feminized males)
This is found in only males and is due to an extra X chromosome. The genotype is
therefore XXY instead of the normal XY and still the sufferer has 47 chromosomes
instead of 46. The extra X chromosome is as a result of non disjunction during
meiosis. It may occur during sperm production in the male parent or during egg
production in the female parent.

Symptoms
 Infertility, no sperm production though they erect and ejaculate.
 They are usually taller than average.
 Breast enlargement but not very obvious
 Smaller testes than normal
 Educational difficulties and behavioural problems
 Higher than usual levels of FSH.
 Voice pitched higher than normal
 Little facial hair.

 Turner’s syndrome (incompletely developed females)

Found in females where an individual missing an X chromosome. The genotype is
therefore XO instead of the normal XX and so the sufferers have 45 chromosomes
instead of 46. This is also as a result of non disjunction of sex chromosomes during
meiosis like in Klinefelter’s syndrome.

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Symptoms
 Infertility because ovaries are absent.
 Hair line at the back of the head is lower than normal.
 Puffy fingers with deep set finger nails which are more convex than normal.
 Small uterus
 Webbed neck
Other combinations of sex chromosomes are possible however individuals with
one or more Y chromosomes are males. While those lacking it are obviously
females.

POLYPLOIDY (EUPLOIDY)
This is a condition where by gametes or somatic cells of an organism have multiples of
the haploid number of chromosomes (possess an extra set(s) of chromosomes).
Prefixes tri-, tetra-, penta-, and so on indicate the extent of polyploidy, for example 3n
is triploid, 4n is tetraploid, and 5n is pentaploid, e.t.c.

Polyploidy is common in plants than in animals. The low frequency in animals is

because gamete formation is prone to errors during meiosis due to increased number
of chromosomes hence sterility and since they can’t be vegetatively propagated, their
numbers can’t be increased. However in plants, it is associated with advantageous
features (hybrid vigour) like increased hardiness, flowers, fruits, storage organ sizes,
and resistance to diseases and since they can be propagated vegetatively, their
numbers can be increased.

There are two forms of polyploidy namely;

 Autopolyploidy
 Allopolyploidy

Auto polyploidy
This is where the chromosome number in the same species is increased either
naturally or artificially. The chromosomes undergo replication during Interphase and
the chromatids separate normally during anaphase bet the cytoplasm fails to cleave or
spindle fibres fail to form by a chemical called colchicine. A tetraploid (4n) cell is
formed with a large nucleus. This cell will undergo mitosis to produce tetraploid cells.

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Allopolyploidy
This arises when the chromosome number in the sterile hybrids gets doubled and
produces fertile hybrids. F1 hybrids produced from different species are usually sterile
since the chromosomes cannot form homologous pairs during meiosis. However if
multiples of the original haploid number of chromosomes e.g. 2(n1 +n2), 3(n1 +n2) and
so in (where n1 and n2 are the haploid numbers of parent species) occur, a new species
is produced with fertile polyploids like its self but infertile with both parental species.

Characteristics of mutations
 Arise spontaneously in nature
 They are persistent
 They are irreversible
 They are not directed by the environment
 Most of them result into disadvantageous characteristics to the organism.

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