VARIATION

Living organisms differ from one

another
However there are some common traits

Variations are the phenotypic

differences among the individuals of a
species

Types of variations :

1. continous variations
2. discontinous variations

Continous variations

A type of variations in which the

differences in a character are not
distinct but forms a continous range of
intermediate phenotypes between two
extreme

Examples :

Weight, height

Chest circumferences, body mass, hand

span

The characteristics of a continous

variations :
1. no distinctive categories into which
individuals can be placed
2. usually quantitative can be measured
3. controlled by large number of genes

4. significantly affected by a large

number of genes
5. result of the combined effects of genes
and the environment

Discontinous variations

A type of variation in which the

differences in a character can be
divided into two or a few types of
distinct phenotypes with no
intermediate characteristics

Example :

Four types of fingerprint patterns

Blood group A, B, AB, O

Ability to roll tongue

Thumb hyperextension

Characteristics of a discontinous
variation:

Distinctive categories in which individuals

can be placed

Individual has the characteristics or does

not have it

Qualitative cannot be measured

Characters are controlled by one gene or a

small number of genes

Largely unaffected by the environment

Discontinous variations are rare in

humans but more common in plants
Plant flower, seed colour

Causes of variations

Genetic factors

Environmental factors

Interactions between genetic factors

and environmental factors

Environmental variations cannot be

inherited

Genetic variations

Sources of variations :

Sexual reproduction

Mutation

Variations

genetic

Environment

Mutations

Sexual reproduction

Chromosomal
mutations

Insertion

Gene
mutations

Independent
assortment
Crossing over

deletion
substitution

Random
fertilisation

Sexual Reproduction

Three sources :

1.crossing over
2. independent assortment
3.random fertilisation

Crossing over
- the exchange of genetic materials
between the chromatids result in new,
different genetic combinations of genes
from the parent

Independent assortment during meiosis

- during metaphase I homologous
chromosomes arrange themselves
randomly at equator

Independent assortment produces

various genetic combinations in the
gametes

Random fertilisation
- each gamete (sperm or ovum) has
different combination of genes
- when the sperm and ovum fertilised it
will produce a unique zygote

Genetic variations caused by

mutation

Mutation a sudden permanent

change in the nucleotide sequence of
the DNA or in the amount of the DNA

Can involve a single nucleotide pair or

a large region of a chromosome

Rarely occurs

Permanent and irreversible

Occur in somatic cell or in gametes

Mutation can be cause by :

Chemical or physical agent

Mistakes that occur during DNA

replication

Uneven distribution of the chromosomes

Physical and chemical agents

- X-ray, UV, gamma rays, nuclear
radiation
- penetrates the nucleus of the cell and
damage the structure of the genes

- chemical mutagent :
- benzene, formaldehyde, asbestos,
carbon tetrachloride, mustard gas, tar,
pesticides

Mistakes that occur during DNA

replication
- occurs when there is a change in the
nucleotide sequence of the DNA
molecule

Gene mutation occurs at a single locus

on a chromosomes
Involve :

Substitution

Deletion

Insertion

G C AT C G AT T C G
Delete C
Insert C

G C AT G AT T C G
Base deletion

G C AT C C G AT T C G
Base insertion
Remove C
replace with A
G C AT C G AT T A G
Base substitution

Change in the sequence of bases

usually result in a defective protein
being synthesised or no protein is
produced

Change in the DNA can lead to changes

in cell function

Inherited disease caused by gene

mutation :

Sickle cell anaemia

Albinism no enzyme responsible for the

production of melanin (skin pigment )

Polydactylism extra finger, or toe

Chromosomal mutation

Caused by :

1. increase or decrease in the number of

chromosome
2. change in the structure of
chromosome

Increase or decrease in the number of

chromosomes
- homologous chromosomes or sister
chromatids fail to separate during
meiosis
- result in the increase or decrease of
chromosom number

Occurs in anaphase of meiosis I or II

The gametes produced would have

22 chromosomes or 24 chromosomes

Down syndrome ( extra copy of

chromosomes 21 )

24

23

47

Zygote

All cells in humans

have 47 chromosomes

The probability of having a child with

Down's syndrome increase with an
increase in the age of the mother

The homologous chromosomes which

fail to separate could be the sex
chromosomes

Example : sperm 22 autosomes and no

sex chromosomes

This sperm is called O

Sperm can have two sex chromosomes

Normal gametes fuse with defective

sperm or ova

Resultant zygote :

have a normal number of autosomes

an abnormal number of sex chromosomes

Sex
chromosomes
of a defective
sperm

Sex
chromosomes
of a
normal ovum

Sex
chromosomes
of offspring

Phenotype

O (none)

XO

turner
syndrome

XX

XXX

trisomy X

YY

XYY

XYY male

XY

XXY

Klinefelter's
syndrome

Sex
chromosomes
of a defective
ovum

Sex
chromosomes
of a
normal sperm

Sex
chromosomes
of offspring

Phenotype

O (none)

XO

turner
syndrome

O (none)

YO

Dies at
embryo stage

XX

XXX

trisomy X

XX

XXY

Klinefelter's
syndrome

Turner syndrome

2n-1 = 45 (44+XO)

Hormone defeciencies prevent the XO

females from menstruating

No secondary sexual characteristics

infertile

Short stature

Thick neck

Only have one X chromosomes - X-linked

recessive disorder :

Colour blindness

trisomy

2n+1 = 47 (44+XXX)

Tall

Below normal level of intelligence

Fertiles

Klinefelter

2n+1 = 47 (44 + XXY)

Men that show mixed secondary sexual
characteristics

Partially breast development

Broadening of the hips

Small testes

Infertile low sperm count

XXY males

Tall

High testosterone

Severe acne

More predisposed to criminal activities

and behavioural problems

Another type of chromosomal mutation

is the addition of one or more sets of
chromosomes into an organisms
polyploidy

Polyploid organisms:

Triploids (3n) three sets of chromosomes

of one type

Tetraploid (4n) have four sets of

chromosomes

Polyploidy is common in flowering

plants
Not occuring in animals
Produce bigger fruit with more
nutritional value

Change in the structure of the

chromosomes

Various radiation or organic chemicals

can cause chromosomes to break

When chromosomes breaks the two

broken end can reunite but do not
rejoin in the same pattern as previously

Four types of chromosomal duplication

Duplication

Translocation

Deletion

Inversion

Duplication

a
b
c

a
b
c

d
e
f
g

d
e
d
e
f
g

Occurs when a broken

segment of a
chromosomes joins with
the other chromosomes
of the homologous pair

Translocation
Occurs when a segment of a chromosome
breaks off and joins a non homologous
chromosomes
a
b
c

al
m
b
nc

a
b
c

al
m
b
nc

d
e
f
g

do
pe
qf
gr

d
e
q
r

do
pe
f
g

Deletion
Occurs when one end of a chromosome
or an internal segment breaks off
the two rejoin to form a chromosome defecient
gene
a
b
c

d
e
f
g

a
b
c
d
f
g

Inversion

a
b
c

a
b
c

d
e
f
g

d
f
e
g
Break

Occurs when a segment

of a chromosome breaks
loose, rotates 180 and
rejoin in reverse direction
- lead to altered gene
activity

Environmental factors

Environmental factors that cause

variations :

Temperature

Light intensity

Humidity

Nutrition

Soil fertility

Examples :

1. flowering plant Hydrangea sp

- acidic soil blue flower
- alkaline soil pink flower

2. unbalanced diet
- child may not reach to full height even
he has gene for tallness
balanced diet and carries weight :
- achieve a physique of a bodybuilder

Identical twins :

Same genotype

Will have different phenotype in different

environment

Well nourish environment and poorly

nourish environment

Environmental factors cannot change

the phenotype more than what has
been determined by the genotype

The importance of variations

in the survival of the species

Provide necessary adaptations to the

changing environment
Enable organisms to survive more
successully compared to other
organisms

Produce diversity in organisms

Interactions between
environmental factors and
genetic factors

Before industrialisation in England

environment is unpolluted

Unpolluted environment

Grey coloured
Biston betularia
(large number )

Well camouflaged
with the lichen
covered tree trunks

Camouflaged protect
them from betularia

Dark melanic
Biston betularia
(small number)

Not camoufaged
by the lichen covered
tree trunk

Easily detected and

eaten by predator

During industrial revolution

Polluted environment
Soot accumulated on
the tree trunk

Dark melanic population

increased as they were
camouflaged by
environment

Lichen that live

on the tree trunk
died

Grey coloured
moths cannot camouflage
themselves

Their population
decline