CHAPTER 6

VARIATION

Variation
Refers to the differences exist between living
organisms as a results of genotypes &
environment
Eg of variations in humans ~ height, weigth,
blood group, tongue rolling, eye colour & sex

Types of variations

2 types :
a) Continuous variation
b) Discontinuous variation

Continuous variation
differences in a character are not distinct
Character are determined by many genes /
environment influences

- Eg : heights, weight, body mass, hand span

- Forms a continuous range of intermediate
phenotypes between 2 extremes
- Usually quantitative (character cn be measured)
- Characters are controlled by a large no. of
genes
- Combines the effects of genes & environment

Discontinuous variation

The differences are discrete (separate)

Not influence by environment factors
Characters are determined by different alleles
An individual either has the characteristic or no
Qualitative (cannot be measured)
Eg : blood group, gender, tongue rolling, ear
lobe, thumb hyperextention

Discontinuous characters are rare in humans &

animals but more common in plants

Discontinuous characters in plants :

a) Flowers
b) Seed colours

Comparison between
continuous variation &
discontinuous variation

Similarities
Create varieties
Are caused by environment factors or
genetic factors / both

Differences
Continuous

Discontinuous

Differences in a
character are not
distinctive

Differences in a
character are
distinctive

Quantitative

Qualitative

With intermediate
characters

No intermediate
characters

Normal distribution

Discrete distribution

Are controlled by large

no. of genes

Controlled by 1 gene /
small no. of genes

Influenced by
environment

Not influenced by
environment

Phenotype is controlled
by many pairs of
alleles

Phenotype is controlled
by a pair of alleles

Causes of variations

Results of :
a) Genetic factors
b) Environmental factors
c) Interactions between genetic factors &
environmental factors

Phenotype = genetic factors + environmental

factors
(observable
characteristics)

(complete set
of genes)

Causesof
of variation
variation
Causes

Genetic factors

Sexual reproduction

Independent
assortment

Random
fertilisation

Crossing over

Environmental factors

Mutation

Gene
mutation

Chromosomal
mutation

Genetic variations

Sexual reproduction & mutation are 2 sources

of variation

There are 3 sources of genetic variations in

sexual reproduction:
a) Crossing over (meiosis prophase I)
b) Independent assortment (meiosis
metaphase I)
c) Random fertilisation

a) Crossing over (meiosis)

Prophase I, 2 homologous chromosomes are
paired up in a bivalent, crossing over occurs
between the chromatids
Exchange of genetic materials between
chromatids :
- New genetic combinations results in variations

b) Independent assortment
(methaphase I)
Homologous chromosomes arrange
themselves randomly at metaphase plate
Produces new combinations of genetic info.

c) Random fertilisation
Fertilisation between male gamete & female
gamete occurs randomly
Each gamete has a unique set of genes. A
male gamete can fertilise any of the female
gametes
As a results, each zygote is unique, variations
occurs

Variations caused by mutation

Mutation spontaneous change in the DNA of

a cell (permanent & irreversible)

Can occur in somatic cells & gamete

Mutation in somatic cells cannot be

inherited

Mutation in gametes inherited fr generation

to generation

2 types of mutation :
a) Chromosomal mutation
b) Gene mutation

a) Chromosomal mutation

1.
2.
3.
4.

4 different types :
Deletion
Inversion
Translocation
Duplication

1. Deletion
Occurs when one end of a chromosome is
break off
The 2 ends rejoin to form a chromosome
deficient in some genes

2. Inversion
When a segment of a chromosome
breaks loose, rotates 180 & rejoins the
chromosome in a reverse direction
No loss of genetic material but a reverse
sequence of genes altered gene activity

3. Translocation
Occurs when a segment of a chromosome
breaks off & joins a non-homologous
chromosome

4. Duplication
Occurs when a broken segment of a
chromosome joins with the other
chromosome of the homologous pair
Resultant chromosome therefore contains
duplicated genes

Non-disjunction
another type of chromosome abnormality
Addition @ loss of one or more chromosomes
Occurs when pairs of chromosomes fail to
separate during meiosis

Results : some gametes get both chromosomes

while others receive none

i)

Non-disjunction of sex chromosomes

results in :

Sperm cell either have X &Y chromosome or

have no sex chromsome
ii) Egg cell either have 2 X chromosomes or
have no sex chromosomes

Eg of chromosomal mutation
1. Down syndrome

Occurs when a normal sperm fertilises an

ovum with extra chromosome 21

Result :zygote with 3 copies of chromosome

21 (total = 47 chromosomes)

Mitosis ~ all the new cells in developing

embryo have 47 chromosomes

 Risk with the increase in the age of mother

Learning disabilities, have heart defects,
short & broad face, slanted eyes, low
immunity towards diseases & mental
retardation

2. Klinefelters syndrome
XXY
47 chromosomes (44 + XXY)
Are men that show mixed secondary sexual
characteristics (partial breast development,
broadening of hips, small testes)
Infertile (low sperm count)

3. Turners syndrome
45 chromosomes (44 + XO)
Hormones deficiency prevent XO females fr
menstruating @ develop secondary sexual
characteristics
Infertile, short stature, thick neck, high risk
of cardiovascular diseases, hearing loss
Display X-linked recessive disorders (colour
blindness)

b) Gene mutation

Change in the base sequence of DNA

5 different types :
i) Duplication
ii) Addition
iii) Deletion
iv) Inversion
v) Substitution

i) Duplication
When a portion of nucleotide chain
is repeated

ii) Addition
Occurs when an extra nucleotide
sequence is inserted into the chain
(insertion)

iii) Deletion
Occurs when a portion of nucleotide
chain is removed from the
sequence

iv) Inversion
Occurs when a nucleotide sequence
separates from the chain, then
rejoins its original position but in
an inverted manner

v) Substitution
Results when one of the nucleotides
is replaced by another which has a
different nitrogenous base

Eg. of gene mutation

1. Sickle-cell anaemia
Mutation of allele responsible for the production
of haemoglobin

Abnormal haemoglobin will crystallizes & binds

together when O2 levels are low

Haemoglobin crystals causes the blood cells to

change into sickle / cresent shapes

2. Albinism
Gene mutation of autosomal recessive allele
Albinos have white hair, pink eyes & lightcoloured skin
Do not have enzyme for the production of
melanin (skin pigment)

3. Cystic fibrosis

Inherited disease ~ body produce excessively

thick & sticky mucus that closes the lungs &
pancreas :
a) Impairing breathing
b) Impairing digestion

Produce salty sweat body loses large

amounts of salt & upset mineral balances in
blood

Respiratory failure ~ causes death

Mutagen

Agents that induce mutations

Mutants ~ individuals that undergone mutations

2 types of mutagens :
a) Radiation ionising mutagens (ultraviolet) &
non-ionising mutagens (X-rays, cosmic rays, -,
-, )
b) Chemicals (nitrous acid, colchicine, mustard
gas & cigarette smoke)

Environmental
factors

 Includes nutrients, temperature, pH & light

Nutrients
- Form of food eaten & types of mineral elements
influence growth
- Identical twins may differ in size & ability to fight
off diseases (different diet)
Temperature
- Affect colour forms of Chinese primrose

 Light
- Darkening of human skin when exposed to light
shows a change of phenotype due to
environmental factor
pH
- Aluminium sulphate & sulphur added to the
soil to make it acidic
- Calcium carbonate, calcium oxide,
magnesium oxide & magnesium carbonate
added to soil to make it alkaline

Importance of variation
in organisms

1. Variable traits improve an individuals chance of

survival & success rate in reproduction
2. Identical individuals (clones) survives well when
conditions are favourable but may be affected
when a new disease comes along
3. Diversity in organisms will not be possible
without variations