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CHAPTER 6: MUTATION

SUBTOPIC 6.1 : Mutation classification and types

LEARNING OUTCOMES :
a) Define mutation
b) State two types of mutation - spontaneous mutation and induced mutation (e.g. exposure to
mutagens)
c) Classify two classes of mutation - gene/point mutation and chromosomal mutation
d) Define mutagen
e) State types of mutagen - physical (e.g. UV rays, gamma rays) and chemical (e.g. colchicine
and ethidium bromide)

MAIN IDEAS /
EXPLANATION NOTES
KEY POINT
Definition of A sudden random change in amount of chromosome, structure of
Mutation chromosome or nucleotide base sequence in DNA of an organism.

Two Classes of • Gene / point Mutation :

Mutation Change in nucleotide base sequence of DNA within a gene //
Change in a single nucleotide base pair at single locus

• Chromosomal Mutation :
Change in chromosome structure (chromosomal aberration) or
alteration of chromosome number

Two types of • Spontaneous mutation :

mutation A mutation occurring naturally in the absence of mutagens, usually
due to errors in the normal functioning of cellular enzymes.
Example : non-disjunction, errors during DNA replication

• Induced mutation :
A mutation caused by exposure to physical and chemical agents
called mutagens.

Definition of • Anything that changes the genetic material of an organism //

Mutagen and An agent that cause an increase in number of mutants in a population
Types of
Mutagen • Types of mutagen :
1. Physical mutagen e.g. UV light, x-rays and gamma rays
2. Chemical mutagen e.g. colchicine and ethidium bromide
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CHAPTER 6: MUTATION

SUBTOPIC 6.2 : Gene mutation

a) Define gene / point mutation
b) Define the four types of gene mutation - base substitution, base insertion, base deletion and
base inversion
c) Describe the consequences of base substitution (e.g. sickle cell anaemia)

MAIN IDEAS / EXPLANATION NOTES

KEY POINT
Definition of Change in nucleotide base sequence of DNA within a gene //
Gene / Point Change in a single nucleotide base pair at single locus
Mutation
Base substitution : Four Types of Gene /
Definition of A pair of nucleotide is replaced with another pair of nucleotide in DNA Point Mutation :
the Four Types
of Gene / Point - Base substitution
Mutation - Base insertion
- Base deletion
- Base inversion

• Base insertion :
• Addition of one or a few bases to the triplet sequences in DNA /
Addition of nucleotide pairs in a gene
•
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• Base deletion :
• Loss of one or a few
bases from the triplet
sequences in DNA /
Loss of nucleotide
pairs in a gene

• Base inversion :
• Small region of DNA
(involving more
than one pair of
nucleotides)
break off and rotate
180ο before reattach
to the DNA

The An abnormal form of the haemoglobin

Consequences (blood respiratory pigment). Erythrocytes
of Base change from biconcave disc to sickle shape
Substitution thus, reducing their ability to carry oxygen.
(e.g. sickle Normal erythrocytes are compact and
flexible, enabling them to squeeze through
cell anaemia) small blood capillaries. Sickle shape
erythrocytes are stiff and angular, causing
them to clump in blood capillaries and form
blockage in the blood vessel. Less oxygen is
transported by the sickled shape erythrocytes.
Causing anaemia, fatigue and pale.
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• In DNA strand of β chain of hemoglobin, base thymine (T) is

replaced with base adenine (A)
• Results in, codon GAG on the wild-type (normal) mRNA is replaced
with codon GUG on the mutant (sickle-cell) mRNA
• The codon GAG code for glutamic acid (Glu) while the codon GUG
code for valine (Val).
• Thus, the amino acid in the mutant (sickle-cell) β chain of hemoglobin
is replaced with valine instead of glutamic acid.
• Results in, production of sickled shape red blood cell.
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CHAPTER 6: MUTATION

SUBTOPIC : 6.3 : Chromosomal mutation

a) Define chromosomal mutation

b) State two types of chromosomal mutation - chromosomal aberration and alteration of
chromosome number
c) Define the types of chromosomal aberration – translocation, deletion (segmental deletion e.g.
cri du chat), inversion and duplication
d) Define the types of the alteration of chromosomal number - aneuploidy (e.g. Down
Syndrome) and euploidy/polyploidy

MAIN IDEAS /
EXPLANATION NOTES
KEY POINT
Definition of Change in chromosome structure (chromosomal aberration) or alteration of
Chromosomal chromosome number
mutation
1) Chromosomal aberration / Change in structure of chromosome
Two types of 2) Alteration of chromosome number / Change in number of chromosome
chromosomal
mutation

Definition of chromosomal aberration :

Define the four
Any changes in the normal structure of chromosomes, often results in physical
types of
or mental abnormalities.
chromosomal
aberration
Four types of chromosomal aberration :
▪ Translocation
▪ Deletion (segmental deletion)
▪ Inversion
▪ Duplication
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MAIN IDEAS /
EXPLANATION NOTES
KEY POINT
Definition of the four types of chromosomal aberration :

1) Deletion :
▪ A type of mutation occurs when
a chromosomal fragment is lost
(removed).
▪ The affected chromosome is shorter
than the normal chromosome due to
the missing of certain genes.
▪ One such syndrome known as cri du chat syndrome is caused by the loss of a
small part of the short arm of chromosome 5.

2) Translocation :
• A genetic change in which segment of one chromosome is broken off and
becomes attached to another chromosome.

3) Inversion :
▪ A chromosomal change due to
a segment of a chromosome
breakdown and turned around 180°
within a chromosome, rearrange
the linear gene sequence.

4) Duplication :
▪ A chromosomal mutation in which
a single locus or a large piece of a
chromosome is repeated more
than once.
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MAIN IDEAS /
EXPLANATION NOTES
KEY POINT
Define the types ▪ Involve the changes in the number of chromosomes either gain or loss of
of the alteration chromosomes
of chromosomal ▪ As a result of non-disjunction during meiosis or during mitosis
number
The meaning of nondisjunction is the failure of homologous chromosomes to
separate and move to the opposite poles during anaphase of meiosis I or the failure
of sister chromatids to separate and move to opposite poles during anaphase of
meiosis II.

TWO TYPES of ALTERATION of CHROMOSOMAL NUMBER

Aneuploidy :

▪ A condition in which one or more

chromosomes are present in extra
copies or are deficient in number
▪ Example : (n -1) gamete means the
gamete loss one particular
chromosome;
(n +1) gamete means the gamete
gain one particular chromosome
▪ Aneuploidy may occur in autosome
or in sex chromosome
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MAIN IDEAS /
EXPLANATION NOTES
KEY POINT
▪ One example of aneuploid in autosome is the Down syndrome or trisomy
21. Is a result of one extra chromosome 21, so that each body cell has a
total of 47 chromosomes.

Euploidy / Polyploidy :

▪ A condition in which an individual has more than two complete sets of

chromosomes
▪ Due to nondisjunction on the whole sets of chromosome

The triploid (3n) organisms may arise from the fertilization between normal
gametes (haploid, n) and abnormal gametes (diploid, 2n). The abnormal
gametes may occur due to nondisjunction during meiosis.