BIO SCORE

CHAPTER 7: MUTATION

SUBTOPIC : 7.1 OVERVIEW THE CLASSIFICATION AND TYPES OF MUTATION

LEARNING OUTCOMES:
7.1 Overview the classification and types of mutation
a) Define mutation.
b) Classify mutation into:
i. spontaneous mutation; and
ii. induced mutation (e.g. exposure to mutagens).
c) State two types of mutation:
i. gene/point mutation; and
ii. chromosomal mutation

MAIN IDEAS /KEY

EXPLANATION NOTES
POINT
Mutation • A sudden random change in genetic material of a cell that
potentially can cause differ in appearance or behavior from
normal type.
• This alteration can be pass from mother to daughter cell during
cell division.
• If mutation occur in reproductive cell, it may be passed from
parent to offspring.
Class of mutation Spontaneous mutation
A mutation occurring in the absence of mutagens, usually due to
errors in the normal functioning of cellular enzymes.
e.g. non-disjunction
Induced mutation
A mutation caused by exposure to a mutagen.
A mutagen is anything that changes the genetic material of an
organism / an agent that causes an increase in number of mutants
in a population
Types of mutagen :
1. Physical mutagen e.g. UV rays, x-rays and gamma rays
2. Chemical mutagen e.g. colchicine and ethidium bromide

Classification of
mutation

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 BIO SCORE
CHAPTER 7: MUTATION

SUBTOPIC : 7.2 GENE MUTATION

LEARNING OUTCOMES:
a) Define gene mutation.
b) State the three types of gene mutation.
c) Explain three types of gene mutation:
i. base substitution;
ii. base insertion; and
iii. base deletion.
d) Explain base substitution (e.g. sickle cell anaemia as missense mutation).
e) State the effect of base substitution (missense, nonsense and silent mutation) and base
insertion and base deletion (frameshift mutation).
f) Explain base insertion and base deletion as a frameshift mutation.

MAIN IDEAS /KEY NOTES

EXPLANATION
POINT
Gene / Point • Caused by change in nucleotide sequence of DNA within a
mutation gene
• Result => change in amino acid sequence of polypeptide and
thus different type of protein produced with abnormal function

Three types of gene / • Base substitution

point mutation • Base insertion
• Base deletion
Base substitution ● Replacement of one nucleotide and its partner with another pair
of nucleotides

Base substitution

Sickle-cell anaemia. The replacement of T by A nucleotide of the

DNA for the beta chain of haemoglobin changes the codon GAG
(for glutamic acid) to GUG (which encodes valine). Thus the
amino acid in the chain becomes valine instead of glutamic acid.

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 ▪ Characterized by an abnormal form of the blood pigment
haemoglobin
▪ Erythrocyte change from biconcave disc to sickle shape
reducing ability to carry oxygen.

Base Insertion ● Addition of one or a few bases to triplet sequences in DNA.

● Cause frameshift mutation

● Base deletion is loss of one or a few bases.

Base Deletion

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 ● Cause frameshift mutation

The effect of base A) Missense mutation

substitution ● Mutation that change one codon to another, specifying a
different amino acid.
● Result→ incorporation of the wrong amino acid in
polypeptide chain during translation

B) Nonsense mutation
● Mutation that change a codon into one of the stop codon
(UAA, UGA, UAG).
● Result→ signaling the termination of translation.

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C) Silent mutation
● An alteration in a DNA sequence that does not result in an
amino acid change in a polypeptide.

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 Base insertion and Frameshift mutation
Base deletion as a
frameshift mutation A type of gene mutation where in the addition (insertion) or
deletion of (a number of) nucleotide(s) causes a shift in the
reading frame of the codons in the mRNA, thus, may eventually
lead to the alteration in the amino acid sequence at protein
translation.

Base insertion as a frameshift mutation

• One or more nucleotides are added to the base sequence of the

nucleic acid, which cause the change in the codon reading
frame.
• Resulted the changed in the sequence of amino acids starting
the insertion of the base until the end in the abnormal
polypeptide chain.

Base deletion as a frameshift mutation

▪ One or more nucleotides are deleted in a nucleic acid, resulting

in the alteration of the reading frame of the codon.
▪ This change the sequence of amino acids starting the deletion
of the base until the end. Non function proteins / new proteins
are produced.

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 BIO SCORE
CHAPTER 7 : MUTATION
SUBTOPIC : 7.3 : CHROMOSOMAL MUTATION

LEARNING OUTCOMES:
a) Define chromosomal mutation.
b) State two types of chromosomal mutation:
i. changes in chromosomal structure/chromosomal aberration; and
ii. changes in chromosomal number.
c) Explain changes in chromosomal structure/chromosomal aberration.
d) Explain types of chromosomal aberration:
i. translocation (e.g. Chronic Myelogenous Leukemia);
ii. deletion (segmental deletion) (e.g. cri du chat);
iii. inversion; and
iv. duplication.
e) Explain alterations of chromosome number.
f) State the types of the alterations:
i. aneuploidy; and
ii. euploidy/ polyploidy.
g) Explain aneuploidy.
h) State aneuploidy effect on autosomal chromosome (Monosomy 21 and Trisomy 21) and sex
chromosome (Klinefelter syndrome and Turner syndrome).
i) Explain autosomal abnormalities and their effects:
i. Monosomy (monosomy 21); and
ii. Trisomy (Down syndrome/ trisomy 21).
j) Explain sex chromosomal abnormalities:
i. Klinefelter syndrome (47, XXY); and
ii. Turner syndrome (45, XO).
k) Explain euploidy/polyploidy:
i. autopolyploidy; and
ii. allopolyploidy

MAIN IDEAS EXPLANATION NOTES

/KEY POINT
Chromosomal ▪ Changes of chromosome structure (chromosomal abberation) /
mutation alteration of chromosome number
▪ Cause some genetic disorder

Types of
chromosomal
mutation

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MAIN IDEAS EXPLANATION NOTES
/KEY POINT
Chromosomal Any changes in the normal structure of chromosomes; often results in
aberration physical or mental abnormalities
Types of chromosomal aberration:
▪ Translocation
▪ Deletion (segmental deletion)
▪ Inversion
▪ Duplication

▪ A segment of one chromosome is broken off and becomes attached to

another chromosome.
▪ Can be reciprocal translocation and nonreciprocal translocation
▪ Reciprocal translocation - occurs when fragment from non homologous
chromosome changed together
▪ Nonreciprocal translocation
- Intra chromosomal -happen within the same chromosome
- Inter chromosomal -moving one fragment of one chromosome to
non-homologous one
One of the abnormalities cause by translocation is Chronic Myelogenous
Leukemia

Translocation

Chronic • Individual with chronic myelogenous leukemia, the chromosomes in

Myelogenous the blood cells swap sections with each other.
Leukemia • A section of chromosome 9 switches places with a section of
chromosome 22, creating an extra-short chromosome 22 and an extra-
long chromosome 9.
• The extra-short chromosome 22 is called the Philadelphia
[Link] Philadelphia chromosome creates a new gene.
• Genes from chromosome 9 combine with genes from chromosome 22
to create a new gene called BCR-ABL.
• The BCR-ABL gene contains instructions which cause the blood cell to
produce too much of a protein called tyrosine kinase.
• Tyrosine kinase promotes cancer by allowing certain blood cells to
grow out of control.

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MAIN IDEAS EXPLANATION NOTES
/KEY POINT

Translocation which causes Chronic Myelogenous Leukemia

Deletion ▪ The lost of one fragment in chromosome. The leftover will join together.
▪ Deleted chromosome shorter than the normal chromosome and its
missing in certain genes.
▪ Cause abnormality such as Cri du chat syndrome : loss of a small part of
the short arm of chromosome 5.

Inversion ▪ A segment of a chromosome breakdown and turned around 180° within a

chromosome, rearrange the linear gene sequence.

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MAIN IDEAS EXPLANATION NOTES
/KEY POINT
Duplication ▪ When a single locus or a large piece of a chromosome is present more
than once in the genome OR occurs when some fragments of the
chromosome breakdown and join with its homologous to form longer
abnormal chromosome which has extra copy genes.

Alteration of ▪ Due to the changes in the number of chromosomes

chromosome ▪ Results of errors/non-disjunction occurring during meiosis or during
number mitosis
o involved loss or gain of single chromosomes
aneuploidy (2n+1 or 2n-1)
o increased in entire haploid sets of chromosomes
euploidy (3n, 4n, 5n…)

Non – disjunction : an error in meiosis or mitosis in which members of a

pair of homologous chromosomes or a pair of sister chromatids fail to
separate properly from each other
a) Non-disjunction during meiosis
▪ Anaphase I – homologous chromosomes fail to separate
▪ Anaphase II – sister chromatids fail to separate

Fusion of either of these gametes (n-1) or (n+1) with normal haploid

gametes (n) will produces a zygote with an odd number of chromosomes,
(2n-1) or (2n+1)

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 MAIN IDEAS EXPLANATION NOTES
/KEY POINT
b) Non-disjunction during mitosis – sister chromatids fail to separate
▪ Half the daughter cell produced will have an extra chromosomes, 2n+1
▪ While the other half will have a chromosome missing, 2n-1

Sister chromatids
fail to separate

Types of
alteration

▪ Condition where in which one or more chromosomes are present in

extra copies or are deficient in number.
▪ Total number of chromosomes is not an exact multiple of haploid
Aneuploidy number, (n)
eg: (n -1), (2n -1) : deleted
(n +1), (2n +1) : added

▪ Aneuploidy autosomal abnormalities: Monosomy and Trisomy

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 MAIN IDEAS EXPLANATION NOTES
/KEY POINT

Aneuploidy effect Monosomy

on autosomal ▪ Condition of diploid cells or organisms lacking in a single chromosome
chromosome (2n - 1).
▪ Result of nondisjunction during meiosis
▪ Very rare.
▪ Effects: human embryos with chromosomes missing don't survive to be
born.
▪ Eg: Monosomy 21 for liveborn infants.

Aneuploidy effect
Trisomy
on autosomal
▪ Condition of diploid cells or organisms gained a single chromosome
chromosome
(2n + 1)

• Trisomies can occur with any chromosome, but often result in

miscarriage
▪ Usually the result of nondisjunction during meiosis
Eg: Trisomy 21 / Down syndrome

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 MAIN IDEAS EXPLANATION NOTES
/KEY POINT

Sex chromosomal ▪ Due to nondisjunction of sex chromosome

abnormalities

Klinefelter ▪ Klinefelter syndrome is a disorder in which males have an extra X

syndrome chromosome (XXY) /(2n + 1)
(2n + 1)

Klinefelter syndrome karyotype

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 MAIN IDEAS EXPLANATION NOTES
/KEY POINT
▪ Klinefelter syndrome may occur due to nondisjunction during meiosis I
(oogenesis or spermatogenesis) or meiosis II (oogenesis)
• Gender: Male
• Characteristics: sterility, small testicles, breast enlargement, narrow
shoulders

▪ Turner syndrome is a disorder that affects females. Individuals with

Turner syndrome this syndrome, also called monosomy X, have a genotype of only one X
(2n-1) / chromosome (XO) /(2n-1)
Monosomy X (2n-
1)

Turner syndrome karyotype

▪ Turner syndrome may occur due to nondisjunction during meiosis I or
meiosis II of oogenesis or spermatogenesis.
• Genotype: XO
• Gender: female

• Characteristic:
- Short stature
- Webbed neck
- Triangular face

Euploidy / ▪ Condition where in which one or more chromosomes are present in

Polyploidy extra copies or are deficient in number eg: triploid (3n), tetraploid (4n).
Caused by nondisjunction on whole sets of chromosome
▪ Polyploids can originate:
● Spontaneuosly or artificially induced using colchicine (mutagen)
● Inhibits spindle formation in mitosis or meiosis
● Chomosomes do not separate and move to opposite poles
● Doubling in chromosomes set
● Divided into:
• Autopolyploidy
• Allopolyploidy

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 MAIN IDEAS EXPLANATION NOTES
/KEY POINT
Autopolyploidy Condition of a cell, nucleus or organism in which there are three or more
sets of chromosomes within the same species
• Non disjunction on whole sets of chromosomes happen in same
plants species.
• Non disjunction produces diploid gametes (2n).
• Diploid gametes can fertilize itself to form tetraploid (4n)

Allopolyploidy ▪ Condition of a cell, nucleus or organism in which there are three or more
sets of chromosomes derived from closely related different species /
two different species.

▪ Zygote/offspring produce known as F1 hybrids

▪ Hybrids usually sterile because do not have homologous chromosomes
to pair up during meiosis
● no gamete can be produce
● sexual reproduction inhibited
● hybrids reproduce vegetatively (asexually)
▪ Sterile hybrid becomes fertile if doubling of chromosomes occur by
non-disjunction.
● Homologous chromosomes pairing is now possible.
● Fertile gamete can be produce.
● New plant arise and can reproduce sexually

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MAIN IDEAS EXPLANATION NOTES
/KEY POINT

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