MUTATION

MUTATION: a heritable change in genetic materials. The result in a genotype

change and will be inherited by cell derived by mitosis or meiosis from the
mutant cell.

MUTATIONS

SOMATIC
MUTATION

GERM-LINE
MUTATION

Occur in somatic cell and will

effect person with the
mutation. Mutation occur will
not be inherited.

Occur in gamete cell and can

be passed from generation to
generation

Mutation involve a change in sequence of DNA within a gene is known as

gene mutation.
Mutation resulting from a change in chromosome structure or change in
chromosome number are known as chromosomal mutation.
GENE MUTATION:
BASE INVERSION
BASE
SUBSTITUTIONS
BASE DELETION

BASE INSERTION

Base substitutions occur when one nucleotide is replaced by another. It can be

divided by two:
I.

Transition mutation where a purine base will be substitute for other purine
or a pyrimidine is replaced by other pyrimidine. Base G is sub to base A or
base C is sub to base T
5-TCTCGCATGGTAGGT-3

II.

5-TCTCGCATAGTAGGT-3

Transversion mutation where purines replace by pyrimidine or vice versa.

For example base A are replaced by base T or vice versa.
Sickle cell anaemia in human cause by base substitution mutation affecting a
base in one of the gene involved in the production of haemoglobin.

Base insertions occur when an extra base pair is added to the DNA strand.

Base deletion is just the reverse, dropping or loss of a base pair from the DNA
strand.
Both insertion and deletion lead to the change in the way of genetic code are
read during translation. Translation involves reading the code in triplets. When
adding one or two base, the reading frames are shifted. Non-functional group
may produce due to the translation of incorrect triplets. But, addition or deletion
of three bases to the base sequence will have no effect on protein function.
Base inversion, the sequence of bases in s portion of gene is reverse.
CHROMOSOMAL MUTATION:
INVERSION
TRANSLOCATION

DELETION
DUPLICATION

Translocation, when a region of a chromosome breaks off and re-joins at either

the end of the same chromosome or another non-homologous chromosomes.
The rearrangements are cause by the fusion of whole long arms of two
acrocentric chromosomes.
Deletion involves the loss of a region of a chromosomes, either from the end or
internally. The broken off portions do not fuse into any chromosomes and are lost
entirely.
Inversion occur when a region of chromosome are break off and rotates around
180 degree before being reattached into the chromosomes in a reverse order.
During prophase 1, the inverted chromosomes and its non-inverted partner may
twist around each other in a way that generates chromosome with deletion or
duplication.
Duplication, a region of chromosome is duplicated so that an additional set of
gene is presented more than once in the genome. Duplication probably plays an
important role in evolution.
CONSEQUENCES OF GENE MUTATIONS:

Mutations may or may not modify the product of the gene expression.
If the mutation has no effect, it is a silent mutation. A silent mutation does
not alter the amino acid sequences of the polypeptide even though the
nucleotide sequence has changed.
Mutations that alter the code are missense mutations. Missense mutation
is base substitutions in which an amino acid change does occur.

A nonsense mutation occurs when a stop codon is introduced during

translation. This cause the translation of the polypeptide to be terminated
earlier than expected.
Frameshift mutations involve the addition or deletion of a number of
nucleotide pairs that is not multiple of 3. When one or two nucleotide pair
is inserted of deleted from the DNA, the reading frame will be altered. The
codon downstream will be specify a differed polypeptide chain at and after
the point of insertion or deletion.