INHERITANCE part 4

MUTATIONS
 A mutation is a sudden change in a gene or a chromosome, which alters the way in which it controls
development.
 Any change in a gene or a chromosome usually has a harmful effect on the cell in which it occurs.
 If the mutation occurs in a gamete, it will affect all the cells of the individual which develops from the
gamete. This will cause the whole organism to be affected.
 If mutation occurs in a body cell, it will affect only those cells produced by mitosis from the affected
cells. E.g. Skin cancer.

There are two types of mutations.

1. Gene mutation: A gene mutation changes the sequence of bases. This may result in a change of sequence of
amino-acids. These mutations are small and may involve just one base. The gene will then produce a different
type of protein with corresponding effects in the organism.
Gene mutation involves;
Addition
Deletions of one or a few base pairs
Substitution (rearrangement) of one base pair for another within the gene

Example:
Albinism
Results from a mutation in the genes
Albinos are unable to produce the dark pigment melanin; which controls skin colouration,
so that the colour fails to develop.
The Albinism allele is recessive to the pigment producing allele.

Parent: Aa X Aa

Male
Female

Gametes A a
A AA Aa

a Aa aa
If both parents carry a recessive gene for the albino characteristic, there is a 1 in 4 chance that their child will be
an albino.

2. Chromosome mutations: Chromosome mutations occur during nuclear division. It results in a zygote with
too many, too few, or an abnormal mixture of chromosomes.
The changes in the number of chromosomes results from the errors occurring during cell division in both sex cells
and somatic cells. The changes in chromosome number may involve the loss or gain of a single chromosome, a
condition known as aneuploidy. Chromosomal mutations resulting from an increase in the entire haploid sets of
chromosomes lead to a condition called euploidy / polyploidy.

Example:
Down's syndrome
Down's syndrome is a condition in humans caused by a chromosome mutation during meiosis.
During egg production, two chromosomes fail to separate so an extra chromosome is present in the egg
cell.
Instead of the egg cell having 23 chromosomes it will have 24.
The affected child has 47 chromosomes in his or her cells instead of the normal 46.

Types of Chromosome Mutations

Inversion – whereby a region of a chromosome breaks off & rotates through 1800 before re-
joining the chromosome.
Translocation – a region of a chromosome breaking off & and re-joining either on the other
end of the same chromosome or on another non-homologous chromosome.
Deletion – it involves the loss of a region of a chromosome, either from the ends or internally. This results
in a chromosome being deficient in certain genes. Deletion can be lethal if it affects the same gene loci on
both homologous chromosomes.
Duplication – a region of a chromosome becomes duplicated so that an additional set of genes exists for the
region of duplication. The additional region of genes may be incorporated within or at the end of the
chromosome
CAUSES OF MUTATIONS
 The major causes of mutations are certain chemical substances and radiation. These are called
mutagens and they include:
o Ultra-violet radiation from the sun
o X-rays, Gamma rays and beta particles from radioactive decay increases the reactivity of
atoms in DNA molecules
o Chemicals such as nitrous acid, tars, mustard gas, caffeine formaldehyde, pesticides.
These chemicals affect the replication process of DNA (i.e. by increasing the probability
of mistakes during replication)