MUTATIONS

A mutation is a spontaneous change in a gene or

chromosome
Gene mutations may arise when a gene fails to make an exact
copy of itself during replication prior to meiosis or mitosis
Chromosome mutations can result from:
Damage to, or loss of a chromosome
Incomplete separation of chromosomes at meiosis leading to
extra chromosomes in one gamete

Part of a chromosome becoming attached to another chromosome

(translocation)

Doubling the whole set of chromosomes

Chromosome mutations in humans usually result in spontaneous
abortion of the foetus

But a proportion survive e.g.

This results in characteristic facial features, varying degrees of

mental impairment and, usually, a very cheerful disposition

Klinefelters syndrome. The affected male has an extra

X chromosome (XXY)

The person appears to be a normal male but he is infertile

 Gene
mutations

If a nucleotide is not copied accurately, the triplet which contains

the fault will not code for the correct amino acid

A protein with an incorrect amino acid will not function properly

The cell chemistry will be disrupted if an essential enzyme fails

to function normally

This means that most gene mutations have a damaging effect

on the cells and the whole organism
What Causes Mutations?
• There are two ways in which DNA can become mutated:
• Mutations can be inherited.
• Parent to child
• Mutations can be acquired.
• Environmental damage
• Mistakes when DNA is copied
Significance of Mutations
• Most are neutral
• Eye color
• Birth marks
• Some are harmful
• Sickle Cell Anemia
• Down Syndrome
• Some are beneficial
• Sickle Cell Anemia to Malaria
Chromosome Mutations
 Down Syndrome
 Chromosome 21 does
not separate correctly.
 They have 47
chromosomes in stead
of 46.
 Children with Down
Syndrome develop
slower, may have heart
and stomach illnesses
and vary greatly in their
degree of inteligence.
Sex Chromosome Abnormalities
 Klinefelter’s
Syndrome
 XXY, XXYY, XXXY
 Male
 Sterility
 Small testicles
 Breast enlargement
XYY Syndrome
• Normal male traits
• Often tall and thin
• Associated with antisocial and behavioral problems
 Turner’s Syndrome
 X
 Female
 sex organs don't
mature at
adolescence
 sterility
 short stature
• XXX
• Trisomy X
• Female
• Little or no visible differences
• tall stature
• learning disabilities
• limited fertility
Mutation rate

Mutations may occur as infrequently as once in 100,000 replications

Nevertheless there are many replications involved in gamete

production

The human ejaculate of about 500 million sperms is bound to carry

some sperms with mutations
Mutagens
Some environmental effects may increase the mutation rate

These include radiation (X-rays, ultra-violet, radioactive materials)

and carcinogenic chemicals such as those in tobacco smoke

These are all known as

mutagens

Mutagens which affect body cells may produce cancers.

Mutagens affecting the reproductive organs may result in
defective offspring
VARIATION
• Variation is an observable difference between the
members of the same species.
• What variations can you see?
• There are variations in skin colour, hair colour, hair
curliness, eye colour and sex
• Variations may be inherited or acquired
Inherited variations result from the activity of genes
They are genetically controlled

Genetically controlled variations cannot be altered

For example, hair colour, skin colour*, blood group,

finger prints and sex cannot be changed naturally
Acquired characteristics result from an individual’s
activities or nutrition or from environmental
conditions during a lifetime

Examples of acquired conditions in humans are*

language obesity
athletic skills mental skills
body building sun tan

Acquired characteristics cannot be inherited

 Discontinuous variation
Discontinuous variations are entirely genetically controlled
They cannot be altered by external conditions.
You are either male or female, there are no intermediates

Your ABO blood group is either A, B, AB or O

Genetic defects such as colour blindness, albinism,

achondroplastic dwarfism, sickle cell anaemia are all
Genetically controlled and expressed in a discontinuous way

You either have these conditions or you do not. There are no

intermediate states
Continuous variation
Continuous variation describes the situation in which there are
a great many intermediates between the extremes
For example, there is every shade of hair colour between black
and blond. People do not belong to one or other of a small number
of distinct categories

Variations such as these are under genetic control but there are
several pairs of genes involved

The genome AA BB CC DD might give black hair while the

genome aa bb cc dd might give blond hair.*

Genomes AaBbCcDd or AABbCCdd or aaBBccDd and all the

other possible combinations would give intermediate colours
 Sources of heritable
variation
There are two principal ways in which heritable
variations can be acquired

Independent assortment of genes

Mutation
 EXERCISE
• 1 A plant with red flowers is crossed with a white-flowered plant of the
same species. All the seeds, when grown, produce plants with red flowers.
Assuming that the flower colour is controlled by a single pair of alleles,
which allele is dominant and which is recessive?

• 2 If a dominant allele for tall plants is represented by the letter D, what

letter should represent the corresponding recessive allele?

• 3 In cats, the allele (S) for short fur is dominant to the allele (s) for long fur.
(a) What is the genotype of a true-breeding, long-furred cat?
(b) What is the phenotype of a cat with the genotype Ss?
(c) In an Ss genotype, which allele is expressed in the phenotype?
(d) Which of the fo1lowing genotypes is (i) heterozygous (ii) homozygous
dominant?
SS, Ss, ss
4. In rabbits, assume that the dominant allele (B) produces black fur. The
allele (b) for white fur is recessive to B.
(a) What colour fur will each of the following rabbits have?

Rabbit 1 Rabbit 2 Rabbit 3 Rabbit 4

genotype BB Bb bB bb

(b) Which of them will breed true?

(c) Which rabbits are homozygous for coat colour?
(d) If rabbits 1 and 4 were mated together and had 12 babies, how many
of these would you expect to be black?
(e) If rabbits 2 and 3 are interbred and produce several litters, totalling 48
babies, how many white babies would be predicted by the laws of
genetics?
(f) If rabbits 3 and 4 are mated together on several occasions and have 50
babies altogether, how many of their babies would you 'expect' to be
black?