Student Companion Resources

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BIOLOGY SCORE
CHAPTER 7: MUTATION
SUBTOPIC :
7.1 : Mutation classification and types
7.2 : Gene mutation
LEARNING OUTCOMES:
a) Explain mutation
b) Classify mutation
c) State types of mutation
d) Define mutagen
e) State types of mutagen
f) Explain gene/point mutation
g) Classify gene mutation
h) Describe base substitution as point mutation (e.g. sickle cell anaemia)
i) Explain frameshift mutation
j) Describe base insertion as a frameshift mutation.
k) Describe base deletion as frameshift mutation

MAIN IDEAS
EXPLANATION NOTES
/KEY 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.
Types of • Spontaneous mutation
mutation o A mutation occurring in the absence of mutagens, usually due
to errors in the normal functioning of cellular enzymes.
o e.g. non-disjunction
• Induced mutation
o A mutation caused by exposure to a mutagen.

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

Gene / Point • Caused by change in nucleotide sequence of DNA within a gene

mutation
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• Result => change in amino acid sequence of polypeptide and thus
different type of protein produced with abnormal function

Classification • Base substitution

of gene / point • Base insertion
mutation • Base deletion
• Base inversion

Base ● Replacement of one nucleotide and its partner with another pair of
substitution nucleotides

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.

▪ Characterized by an abnormal form of the blood pigment

haemoglobin (Sickle - shaped haemoglobin molecules).

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▪ Haemoglobin change from biconcave disc to sickle shape
reducing ability to carry oxygen.

Type 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

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

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

● Cause frameshift mutation

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

● Cause frameshift mutation

Base Inversion ● Base Inversion is change position of two bases.

● Only one amino acid is changed from the normal polypeptide.
● The effect is not critical such as base insertion and base deletion

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Frameshift A type of gene mutation where in the addition (insertion) or deletion of

mutation (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 The effect is changed the sequence of amino acids starting the
as a frameshift insertion of the base until the end in the abnormal polypeptide chain.
mutation

Base deletion as The effect is changed the sequence of amino acids starting the deletion
a frameshift of the base until the end. Non function proteins is produced by
mutation frameshift mutation

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BIOLOGY SCORE
CHAPTER 7 : MUTATION
SUBTOPIC : 7.3 : Chromosomal mutation

LEARNING OUTCOMES:
• Explain chromosomal mutation
• Classify chromosomal mutation
• Explain chromosomal abberation (structural changes)
• State and describe types of chromosomal abberation
• Explain alteration of chromosome number
• State the types of the alteration
• Explain aneuploidy
• Explain autosomal abnormalities and their effects
• Explain sex chromosomal abnormalities
• Explain euploidy / polyploidy

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

Classification
of
chromosomal
mutation

Chromosomal Any changes in the normal structure of chromosomes; often results in physical
abberation or mental abnormalities
Types of chromosomal aberration:
▪ Translocation
▪ Deletion (segmental deletion)
▪ Inversion
▪ Duplication

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▪ 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

Translocation

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.

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.

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

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

Non – An error in meiosis or mitosis in which members of a pair of homologous

disjunction chromosomes or a pair of sister chromatids fail to separate properly from each
other
May occur 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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Mitosis – sister chromatids fail to separate

▪ Both sets of chromosomes will move to the same poles
▪ Half the daughter cell produced will have an extra chromosomes, 2n+1
▪ Whilst the other half will have a chromosome missing, 2n-1

Sister chromatid
fail to separate

Types of
alteration
chromosome
number

Aneuploidy
▪ 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 number, (n)
eg: (n -1), (2n -1) : deleted
(n +1), (2n +1) : added

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▪ Aneuploidy autosomal abnormalities: Monosomy and Trisomy

Monosomy ▪ Condition of diploid cells or organisms lacking in a single 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.

▪ Condition of diploid cells or organisms gained a single 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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Trisomy

Sex ▪ Due to nondisjunction of sex chromosome

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

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Euploidy / ▪ Condition where in which one or more chromosomes are present in extra
Polyploidy copies or are deficient in number eg: triploid (3n), tetraploid (4n)
▪ Caused by nondisjunction on whole sets of chromosome
▪ More common in plants species than in animal because:
a. Polyploid plants can reproduce asexually by vegetative propagation
b. Polyploid plants with an even no. of chromosome sets (4n, 6n etc) can
often self-fertilise and reproduce
c. Plant hybridize more easily with other related species
d. Animals primarily reproduce sexually. Polyploidy interferes with the
sex determination mechanism of vertebrates

Polyploid species:
• Tend to grow faster, larger than the diploid plants
• Increase yields of crops in agriculture by producing larger fruits, seeds,
leaves
• eg strawberries (8n), bread wheat (6n), bananas

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

Autopolyploidy Condition of a cell, nucleus or organism in which there are three or more sets of
chromosomes within the same species
• Nondisjunction on whole sets of chromosomes happen in same plants
species.
• Nondisjunction produces diploid gametes (2n).
• Diploid gametes can fertilize it self to form tetraploid (4n)

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Allopolyploidy ▪ Condition of a cell, nucleus or organism in which there are three or more sets
of chromosomes derived from closely related different species / Organism
having multiples set of chromosomes which are derived from a different
species.
▪ Zygote/offspring produce known as F1 hybrids
▪ Hybrids usually sterile:

▪ 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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