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 Gene Independent

mutations mutations assortment

Crossing over
Insertion deletion
Random
substitution 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
 GCATCGATTCG

Delete C
Insert C

GCATGATTCG GCATCCGATTCG
Base deletion Base insertion

Remove C
replace with A
GCATCGATTAG

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 )

23 24

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 Sex Sex Phenotype
chromosomes chromosomes chromosomes
of a defective of a of offspring
sperm normal ovum

O (none) X XO turner
syndrome

XX X XXX trisomy X

YY X XYY XYY male

XY X XXY Klinefelter's
syndrome
Sex Sex Sex Phenotype
chromosomes chromosomes chromosomes
of a defective of a of offspring
ovum normal sperm

O (none) X XO turner
syndrome

O (none) Y YO Dies at
embryo stage

XX X XXX trisomy X

XX Y 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

Occurs when a broken

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

d d
e e
f d
g e
f
g
 Translocation

Occurs when a segment of a chromosome

breaks off and joins a non homologous
chromosomes

a al a al
b m
b b m
b
c nc c nc

d o
d d o
d
e pe e pe
f qf q f
g gr r 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 a
c b
c

d d
e f
f g
g
Inversion

Occurs when a segment

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

d d
e f
f e
g g
Break
 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 Dark melanic

Biston betularia Biston betularia
(large number ) (small number)

Not camoufaged
Well camouflaged
by the lichen covered
with the lichen
tree trunk
covered tree trunks

Camouflaged protect Easily detected and

them from betularia 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 Their population
themselves decline