Variations in Organisms

1. Living organisms differ from one another.

2. Everyone is unique in terms of the combinations of tens of thousands of genetically determined
characters that we possess. However, there are some common traits.
a) Human beings differ in their heights, weights and the colours of their eye and skin.
b) Some of these characteristics are inherited from their parents.
c) Others are the result of the environment and the results of interaction of both genetic and
environmental factors.
3. Variations are the phenotypic differences among the individuals of a species.

The bar chart can be redrawn as a smooth curve because there are many intermediate classes between the
two extremes.
The results cluster around the mean value and show a normal distribution.

Types of Variations
1. Two types continuous variation differences of a character are not distinct but forms a
continuous range of intermediate phenotypes between two
extremes.
i) no distinctive categories
ii) usually quantitative (the characters can be measured)
iii) controlled by a large number of genes
iv) significantly affected by the environment

discontinuous variation the differences of a character can be divided into two or

Characteristics for discontinuous variation:
a) An individual either has the
characteristic or doesn’t.
b) Not manifested as a range of variations
between the extremes.
c) Usually qualitative, can’t be measured
d) Unaffected by the environment
e) Resultant effects of genes
a few types of distinct phenotypes, with no
intermediate characteristics. For example,
a) the four types of fingerprint patterns
b) the A, B, AB and O blood groups
c) the ability to roll the tongue
d) attached or free ear lobes
e) thumb hypertension
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Continous variation
A type of variation in which the
differences in character are not
distinctive.
Heights & weight

Exhibits a spectrum of phenotypes

with intermediate characters

Quantitative (can be measured and

graded from one extreme to another)
Shows a normal distribution

Influenced
Two or more genes control the same
character

Controlled by many pairs of alleles

Differences
Aspects
Definition

Examples

Intermediate characteristics

Quantitative or qualitative

Graph distribution

Environmental factors
Genes

Phenotypes
Comparisons
between
continuous
variation &
discontinuous
variation

Discontinuous variation
A type of variation in which the
differences in character are
distinctive.
Blood groups, fingerprint patterns,
haemophilia & albinism
Exhibits a few distinctive
phenotypes with no intermediate
characters
Qualitative (cannot be measured
from one extreme to another)
Shows a discrete distribution

Not influenced
A single gene determines the
differences in the traits of a
character
Controlled by a pair of alleles
Causes of Variations
1. Variations in phenotypes can be the results of
a) genetic factors
b) environmental factors
c) the interactions between genetic factors & environmental factors

PHENOTYPE = GENOTYPE + EFFECTS OF THE

(the observable (the complete set ENVIRONMENT
characteristics of genes possessed
of an organism) by the organism)

2. Genetic variations (controlled by genetic factors) can be inherited whereas environmental

variations cannot be inherited.
Genetic Variations
In genetic variations, sexual reproduction & mutation are two sources of variation.

Genetic variations in sexual reproduction

1. Sexual reproduction, which involves the production and fertilisation of gametes, results in genetic
variations in the offspring.
2. Three sources of genetic variations in sexual reproduction:
I) Crossing over during meiosis

1. During prophase I of meiosis, when two

homologous chromosomes are paired up
in a bivalent, crossing over occurs
between the chromatids.

2. The exchange of genetic materials between the chromatids results in new, different genetic combinations
of genes from the parents. The new
genetic combination results in variation.

II) Independent assortment

during meiosis
1. During metaphase I of meiosis,
homologous chromosomes arrange
themselves randomly at the
metaphase plate.

2. The random arrangement and

separation of each homologous pair
is independent of one another.
3. Both crossing over and independent assortment of chromosomes produce new combinations of genetic
information from both parents which are known as genetic recombination which leads to the formations
of gametes with different combinations of genes from parent cells.

III) Random fertilisation

1. Each gamete has a unique set or combination of genes. A male gamete can fertilise any of
the female gametes.
2. The fertilisation between a male gamete & a female gamete occurs randomly.
3. As a result, each zygote is unique.
4. With random fertilisation, variations occur in the offspring.
Genetic variations caused by mutation

1. A mutation is a sudden permanent change in the nucleotide sequence of DNA or in the amount
of DNA.

2. Mutation:
a) can involve a single nucleotide pair or a large region of a chromosome
b) rarely occurs but when it does, it is random, spontaneous and changes human characteristics
c) is permanent & irreversible
d) can occur in somatic cells or in gametes

3. Mutation in somatic cells CANNOT BE INHERITED but affects the person during his lifetime. If a
mutation occurs in the reproductive cells, the new characteristics that did not exist in the parents can
be inherited by the offspring.

5. Mutations can be caused by

a) chemical or physical agents
- The natural rate of mutation is very low. However it could be increased by environmental factors.
- Physical and chemical agents that cause mutation are known as mutagens.
- Examples: high-energy ionising radiation (X-ray, UV rays, gamma rays & nuclear radiation),
chemical mutagens (benzene, formaldehyde, asbestos, carbon tetrachloride, mustard gas,
tar in tobacco smoke & pesticides of high concentration)
b) uneven distribution of the chromosomes during cell division
c) mistakes that occur during DNA replication (gene mutation)
- Normally, DNA replication is extremely accurate. Occasionally, mistakes occur in the bases when
the DNA is being replicated.
- Gene mutation or point mutation occurs when there is a change in the nucleotide sequence of DNA
molecule.
- Gene mutation occurs at a single locus on a chromosome.
- It may involve substitution, deletion or insertion of a nucleotide base.
- Base insertion or base deletion usually causes more harm when compared to base substitution.

Normal DNA base sequence: GCATCGATTCG

remove C and
delete C insert C replace with A

GCATGATTCG GCATGATTCG GCATGATTCG

 a)Base deletion is the b) Base insertion is the c) Base substitution is the
removal of a base from insertion of an extra base replacement of one or more
a normal gene sequence. into a normal gene sequence. base nucleotide with another.

- The changes in the DNA can lead to changes in cell functions

Change in the change in the change in amino change in change in change in

bases of DNA bases of mRNA acids or protein protein structure protein function cell function
- Gene mutation may occur in a recessive or dominant gene.
- Many inherited diseases are caused by gene mutation such as:
a) Sickle-cell anaemia which is caused by mutation of the
allele responsible for the production of haemoglobin. The
mutated allele causes the production of abnormal
haemoglobin which crystallises and binds together when
oxygen levels are low.
b) Albinism is caused by gene mutation of an autosomal
recessive allele. (People: albinos, condition: albinism) Albinos have white hair, pink eyes, and
light-coloured skin. This is because they do not have an enzyme responsible for the production of
melanin, the skin pigment.
c) Polydactylism is a condition in which the affected individuals have an extra finger/toe as a result
of gene mutation.

Chromosal mutation
Chromosomal mutations involve either:
a) an increase or a decrease in the number of chromosomes
1. When homologous chromosomes or sister chromatids fail to separate during meiosis, this results
in an increase or a decrease in chromosomal number.
2. This error usually occurs during the anaphase of meiosis I or II. The resultant gametes have an
abnormal number of chromosomes.
3. If this occurred in humans, the gametes produced would have 22 chromosomes or
24 chromosomes instead of the normal 23 chromosomes.

- Genetic disorders, for example, Down’s syndrome or trisomy

21, occur when a gamete with 24 chromosomes fuses with a
normal gamete.
- An individual with Down’s syndrome has an extra copy of
chromosome number 21.
- i) When a normal sperm fertilises an ovum with an extra
chromosome 21, the result is a zygote with three copies of
chromosomes 21 and a total of 47 chromosomes instead of
the normal 46.
- ii) As a result of mitosis, all the new cells in the developing
embryo will also have 47 chromosomes.
- The probability of having a child with Down’s syndrome
increases with an increase in the age of the mother.
 - An individual with Down’s syndrome is characterised by slanted eyes, a small nose, a large tongue,
short and broad arms, a low immunity towards diseases and mental retardation.

4. The homologous chromosomes which fail to separate could be the sex chromosomes.
For example, a sperm can have 22 autosomes and no sex chromosome. Such sperms are called
O. Alternatively, a sperm can have two sex chromosomes and be XX, XY or YY. In females, an
ovum can be O or XX.
5. The most common abnormalities are XO, XXX, XXY & XXY.

Sex chromosomes of Sex chromosomes of Sex chromosomes of Phenotype

a defective sperm a normal ovum offspring
O (none) X XO Female: Turner’s syndrome
XX X XXX Female: trisomy X
YY X XYY XYY male
XY X XXY Male: Klinefelter’s syndrome
The effects of changes in the number of sex chromosomes

Sex chromosomes of Sex chromosomes Sex chromosomes of Phenotype

a defective sperm of a normal ovum offspring
O (none) X XO Female: Turner’s syndrome
O (none) Y YO Dies at the embryonic stage
XX X XXX Female: trisomy X
XX Y XXY Male: Klinefelter’s syndrome

Genetic Disorder Characteristics

Turner’s Syndrome - short stature, swelling, broad chest, low hairline, low-set ears,
(XO) and webbed necks. Girls with Turner syndrome typically experience
2n - 1 = 45 (44+XO) gonadal dysfunction (non-working ovaries), which results
in amenorrhea (absence of menstrual cycle) and sterility.
- Since they have only one X chromosome, they display X-linked
recessive disorders such as colourblindness more frequently than a
normal XX female.
Trisomy X - Tall and usually have below normal levels of intelligence. However,
(XXX) there is no obvious defects.
2n + 1 = 47 (44+XXY) - XXX females are usually fertile and have normal pregnancies.
Klinefelter’s syndrome - XXY are men that show mixed secondary sexual characteristics,
(XXY) including partial breast development, broadening of the hips and small
2n + 1 = 47 (44+XXY) testes.
- They are usually infertile because of a low sperm count.
XYY males - XYY males are tall, have high levels of testosterone, and often have
2n + 1 = 47 severe acne problems.
- These males are believed to be more predisposed to criminal activities
and behavioural problems.
 b) changes in the structure of the chromosomes
- Various environmental agents such as radiation or certain organic chemicals can cause chromosomes
to break.
- Usually, when breaks occur in chromosomes, the two broken ends can reunite to give the same
sequence of genes.
- Chromosomal mutation:
o Involves changes in the structure of chromosomes, that is, the rearrangement of whole blocks of
genes on a chromosome
o Results in an alteration in the number of genes or in the sequence of whole sets of genes on a
chromosome
o There are four types of this kind of chromosomal mutations:

A) Duplication

Duplication occurs when a broken segment of chromosome joins with the other chromosome of
the homologous pair. The resultant chromosome therefore contains duplicated genes.

B) Translocation

A translocation occurs when a segment of a chromosome breaks off and joins a non-
homologous chromosome.

C) Deletion

A deletion occurs when one end of a chromosome or an internal segment breaks off. The two
ends rejoin to form a chromosome deficient in some genes.
 D) Inversion

An inversion occurs when a segment of a chromosome breaks loose, rotates 180º and, as a
result, rejoins the chromosome in a reverse direction. There is no loss of genetic material but a
reverse sequence of genes can lead to altered gene activity.

Environmental Factors
1. Environmental factors that cause variations include abiotic factors such as
temperature, light intensity, humidity, nutrition and soil fertility.
2. Different environmental factors give rise to different variations in plants. For
example, the flowering plant Hydragaea sp. produces blue flowers when the
soil is acidic but pink flowers when the soil is alkaline.
3. However, some variations in characteristics are the result of the interactions
between genetic a nd environmental factors. Phenotype = genotype + effects of
the environment.
4. For example, the stature of a person can be affected by nutrition.
5. Identical twins that have the same genotype may have different phenotypes in
different environments.
6. Likewise, sunlight & temperature can change a person’s hair and skin colours.
7. Infertile ground results in unhealthy plants.

The Importance of Variations in the Survival of a Species

1. If there are no variations among the individuals of a species, an unfavourable change in the
environment may cause an entire species to be wiped out or become extinct.
2. Variation enables organisms to survive successfully when compared to other organisms which do not
have variations. For example, variations among plants can withstand severe weather and are more
resistant to diseases and pests.
3. Diversity in organisms will not be possible without variations.

Interactions between environmental factors & genetic factors

1. A population that has variations will survive in a changing environment. Both the environmental &
genetic factors play important roles in the survival of a species.

2. The importance of variations to the survival of a species is seen in the case of the peppered moth (
Biston betularia) in Manchester, England.

3. Before industrialisation in England, where the environment was unpolluted, there were more grey-
coloured Biston betularia than dark melanic Biston
betularia because they were well camouflaged by lichen-
covered tree trunks. In an unpolluted environment, the dark
melanic Biston betularia were not camouflaged. As a
result, they could be easily detected and eaten by predators,
resulting in a decrease in their numbers.
4. During the Industrial Revolution in England, the air quality deteriorated and soot accumulated on tree
trunks, killing the lichens that lived on the trunks. As a result, grey-coloured moths could no longer
camouflage and were easily caught by predators. Consequently, their population declined rapidly. In
contrast, the dark melanic moths increased in numbers.

5. In the 1960’s, after the Clean Air Act was introduced in cities, the air quality improved, resulting in a
decrease in the population of the dark melanic Biston betularia.