Bio3TC17-Mutation-QA

Which of the following results in the addition of a single chromosome to the chromosome number of a
cell, as in Downs syndrome?
A Chromosome translocation
B Nondisjunction
C Allopolyploidy
D Autopolyploidy

During spermatogenesis, a nondisjunction event that occurs during the second division is
A better than the first division because only two of the four products of meiosis are aneuploid.
B the same outcome as the first division with all four products of meiosis are aneuploid.
C the same outcome as the first division as only two products of meiosis are aneuploid.
D worse than the first division because all four products of meiosis are aneuploid.

3 Which of the following types of gene mutation cause frame-shift mutation ?

I. One base substitution
II. One base insertion
III. Two base inversion
IV. Deletion of a triplet code
A. I, II and III only
B. II only
C. I and IV only
D. II and IV only
4. The diagram below shows a type of mutation that happens in a sequence of nucleotides.
C A C G G T AA C A T G G T AA
Which of the following is true regarding the type of mutation shown above?
A It is a type of chromosomal mutation.
B It can cause frameshift mutation to happen.
C It can cause nonsense mutation to happen.
D Sickle cell anaemia is an example of this type of mutation.
5

Part of the amino acid sequences in normal and sickle cell haemoglobin are shown.
normal haemoglobin
thr-pro-glu-glu

sickle cell haemoglobin

thr-pro-val-glu

Possible mRNA codons for these amino acids are

glutamine (glu) GAA GAG
proline (pro) CCU CCC
threonine (thr) ACU ACC
valine (val) GUA GUG
Which tRNA molecule is not involved in the formation of this part of the sickle cell haemoglobin?
A

6. The diagram above shows a pair of homologous

chromosomes during prophase. What mutation has
occurred?
A Deletion
B Duplication
C Insertion
D Inversion
7. Which of the following could result in polyploidy?
I Random segregation
II Non-disjunction
III Treatment with colchicines
IV Hybridisation
A. I, II, and III
B. I, II, III and IV
C. I, II and IV
D. II, III and IV

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Bio3TC17-Mutation-QA

Autopolyploid are formed from

A the doubling of a hybrid genome from two species
B the hybridization of two closely related species
C the doubling of the genome within the same species
D the non-disjunction that happens to all chromosome pairs

The diagram below shows the structure of chromosome which has undergone mutation.

What type of mutation is shown above?

A Euploidy
B Insertion

C Duplication

D Translocation

10 The figure below shows normal red blood cells and abnormal red blood cells. The abnormal red blood
cells are the symptoms of an inherited blood disorder caused by gene mutation.
Normal red blood cell

Abnormal red blood cell

(a) What is meant by gene mutation?

[1m]

___________________________________________________________________________
(b) State and explain the type of gene mutation which can cause the genetic disorder in (b)? [3m]
___________________________________________________________________________
___________________________________________________________________________
___________________________________________________________________________
(c) List the symptoms of an affected person.

[2m]

___________________________________________________________________________
___________________________________________________________________________
(d) Give other types of gene mutation.

[1m]

___________________________________________________________________________
2

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Bio3TC17-Mutation-QA

11

The table below shows some genetic disorders due to mutation.

(a) Complete the table by filling in the specific cause of each disorder.
I
II
III
IV

Genetic disorder
Sickle cell anaemia
Klinefelter syndrome
Cri-du-chat syndrome
Psychopathic super-male

[4m]

Cause

(b) What is the main cause of mutation?

[1m]
_______________________________________________________________________________
(c) Describe briefly each of the following mutation:
(i) Nonsense mutation
[1m]
________________________________________________________________________________
________________________________________________________________________________
(ii) Silent mutation
[1m]
________________________________________________________________________________
________________________________________________________________________________
12

Illustrate, by means of a genetic diagram, the stages involved in the hybridisation between grasses of
Spartina alterniflora (2n=70) and Spartina stricta (2n = 56) to form a new species Spartina townsendii
(4n=126)
[5m]

13. (a) Differentiate between gene mutation and chromosomal mutation.

[4m]
(b) Downs syndrome is caused by chromosomal mutation. Explain how this may occur.

[5m]

(c) Describe what is frameshift mutation.

[6m]

Answers
1B 2A 3B 4D 5A 6D 7D 8B 9D

10a. Change in the base/nucleotide sequence of DNA

b. 1. base substitution
2. The CTT triplet nucleotide sequence on DNA changes into CAT / nucleotide with base T
is replaced with another nucleotide with base A
3. Codon GAA which encodes glutamic acid is substituted with codon GUA which encodes
3

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Bio3TC17-Mutation-QA

c.

d.
11 (a)

valine
4. This change in amino acid results in a mutated chain of the blood haemoblobin
Resulting in sickle cell-shaped red blood cells.
1. Insufficient supply of oxygen to various parts of the body
2. Physical weakness / fatigue
3. Organ damage
4. Dizziness
Base deletion, insertion, inversion

Cause
Base substitution of haemoglobin gene
Non-disjunction leading to a male having an extra of X
chromosome
III Cri-du-chat syndrome
Aberration leading to deletion or loss of a segment of
chromosomal material
IV Psychopathic super-male Non-disjunction leading to a male having an extra of Y
chromosome
(b) Mutation is caused naturally by changes in environment or can be induced by mutagens e.g
X-radiation and mustard gas
(c) (i) Nonsense mutation is a kind of base substitution mutation where the altered codon is stop
codon leading to translation of non-functional protein
(ii) Silent mutation is a kind of base substitution mutation where the altered codon is
degenerative in nature and still encodes for the same amino acid
I
II

12

Genetic disorder
Sickle cell anaemia
Klinefelter syndrome

Illustrate, by means of a genetic diagram, the stages involved in the hybridisation between grasses of
Spartina alterniflora (2n=70) and Spartina stricta (2n = 56) to form a new species Spartina townsendii
(4n=126)
[5m]
P1 :
AA
X
SS
(2n=70)
(2n=56)
Spartina alterniflora
Spartina stricta
A
A
n=35

G1 :

F1 :

S
n=28

AS
2n=63
Sterile hybrid

Chromosome doubling (caused by

Nondisjunction of chromosomes
during mitosis or meiosis)
AASS
4n=126
Spartina townsendii
13.(a)

4
Gene mutation
Change in the nucleotide sequence in
a particular gene;
Small scale alteration;
Can sometimes be corrected;
4

Chromosomal mutation
Change in several genes in the
chromosome;
Large scale alteration;
Hardly corrected;

1/0
1/0
1/0
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Bio3TC17-Mutation-QA

Only a slight structural alteration;

.(b)

.(c)

Are either numerical or structural

1/0
changes in the entire DNA strand;
Down syndrome is an example of aneuploidy that is instead of 46 chromosomes there are
47 chromosomes in the individual;
it is a result of non-disjunction during meiosis.
the two chromosomes number 21 fail to separate during anaphase I or anaphase II of
meiosis;
the gametes produced contain 24 chromosomes (2 copies of 1 chromosome 21) and 22
chromosomes (no chromosome 21);
when a sperm containing 23 chromosomes fuses with an ovum containing 24
chromosomes and the zygote formed contains three chromosome 21, trisomy;
the individual may be a male or female usually with flat, broad faces, slanted eyes, short
palms and are mentally retarded.
an alteration in the normal reading frame of a gene caused by an insertion or deletion in a
DNA sequence;
results if the number of inserted or deleted nucleotides is not divisible by three, i.e., the
number of nucleotides per codon;
DNA sequences are read three nucleotides at a time (codond) and each codon correspond
to a specific amino acid or stop signal;
during translation, the sequence of codons is read in order to synthesis a polypeptide chain;
will alter all the amino acids encoded by the gene following the mutation;
proteins synthesised are unable to function properly or at all
possibly result in any number of genetic disorders depending on the gene in which the
insertion or deletion occurs

1
1
1
1
1
1
1
1
1
1
1
1
1

Teacher's copy
1 Which of the following results in the addition of a single chromosome to the chromosome number of a
cell, as in Downs syndrome?
A Chromosome translocation
B Nondisjunction
C Allopolyploidy
D Autopolyploidy
2

During spermatogenesis, a nondisjunction event that occurs during the second division is
A better than the first division because only two of the four products of meiosis are aneuploid.
B the same outcome as the first division with all four products of meiosis are aneuploid.
5

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Bio3TC17-Mutation-QA

C the same outcome as the first division as only two products of meiosis are aneuploid.
D worse than the first division because all four products of meiosis are aneuploid.

3 Which of the following types of gene mutation cause frame-shift mutation ?

I. One base substitution
II. One base insertion
III. Two base inversion
IV. Deletion of a triplet code
A. I, II and III only
B. II only
C. I and IV only
D. II and IV only
4. The diagram below shows a type of mutation that happens in a sequence of nucleotides.
C A C G G T AA C A T G G T AA
Which of the following is true regarding the type of mutation shown above?
A It is a type of chromosomal mutation.
B It can cause frameshift mutation to happen.
C It can cause nonsense mutation to happen.
D Sickle cell anaemia is an example of this type of mutation.
5

Part of the amino acid sequences in normal and sickle cell haemoglobin are shown.
normal haemoglobin
thr-pro-glu-glu

sickle cell haemoglobin

thr-pro-val-glu

Possible mRNA codons for these amino acids are

glutamine (glu) GAA GAG
proline (pro) CCU CCC
threonine (thr) ACU ACC
valine (val) GUA GUG
Which tRNA molecule is not involved in the formation of this part of the sickle cell haemoglobin?
A

6. The diagram above shows a pair of homologous

chromosomes during prophase. What mutation has
occurred?
A Deletion
B Duplication
C Insertion
D Inversion
7. Which of the following could result in polyploidy?
I Random segregation
II Non-disjunction
III Treatment with colchicines
IV Hybridisation
A. I, II, and III
B. I, II, III and IV
C. I, II and IV
D. II, III and IV

Autopolyploid are formed from

A the doubling of a hybrid genome from two species
B the hybridization of two closely related species
C the doubling of the genome within the same species
D the non-disjunction that happens to all chromosome pairs

The diagram below shows the structure of chromosome which has undergone mutation.
6

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Bio3TC17-Mutation-QA

What type of mutation is shown above?

A Euploidy
B Insertion

C Duplication

D Translocation

10 The figure below shows normal red blood cells and abnormal red blood cells. The abnormal red blood
cells are the symptoms of an inherited blood disorder caused by gene mutation.
Normal red blood cell

Abnormal red blood cell

(a) What is meant by gene mutation?

[1m]

Change in the base/nucleotide sequence of DNA

(b) State and explain the type of gene mutation which can cause the genetic disorder in (b)? [3m]
- base substitution
- CTT triplet nucleotide sequence on DNA changes into CAT / nucleotide with base
T is replaced with another nucleotide with base A
- Codon GAA which encodes glutamic acid is substituted with codon GUA which encodes
valine
- This change in amino acid results in a mutated chain of the blood haemoglobin
- Resulting in sickle cell-shaped red blood cells.
(c) List the symptoms of an affected person.
- Insufficient supply of oxygen to various parts of the body
- Physical weakness / fatigue
- Organ damage
- Dizziness

[2m]

(d) Give other types of gene mutation.

[1m]

- Base deletion, insertion, inversion

11

The table below shows some genetic disorders due to mutation.

(a) Complete the table by filling in the specific cause of each disorder.
I
II

Genetic disorder
Sickle cell anaemia
Klinefelter syndrome

[4m]

Cause

Base substitution of haemoglobin gene

Non-disjunction leading to a male having an extra of X
chromosome
7

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Bio3TC17-Mutation-QA

III
IV

Cri-du-chat syndrome

Aberration leading to deletion or loss of a segment of

chromosomal material
Psychopathic super-male Non-disjunction leading to a male having an extra of Y
chromosome

(b) What is the main cause of mutation?

[1m]

Mutation is caused naturally by changes in environment or can be induced by mutagens

e.g X-radiation and mustard gas
(c) Describe briefly each of the following mutation:
(i) Nonsense mutation

[1m]

Nonsense mutation is a kind of base substitution mutation where the altered codon is stop
codon leading to translation of non-functional protein
(ii) Silent mutation

[1m]

Silent mutation is a kind of base substitution mutation where the altered codon is
degenerative in nature and still encodes for the same amino acid
12

Illustrate, by means of a genetic diagram, the stages involved in the hybridisation between grasses of
Spartina alterniflora (2n=70) and Spartina stricta (2n = 56) to form a new species Spartina townsendii
(4n=126)
[5m]
P1 :
AA
X
SS
(2n=70)
(2n=56)
Spartina alterniflora
Spartina stricta
G1 :

A
A
n=35

F1 :

S
n=28

AS
2n=63
Sterile hybrid

Chromosome doubling (caused by

Nondisjunction of chromosomes
during mitosis or meiosis)
AASS
4n=126
Spartina townsendii

13. (a) Differentiate between gene mutation and chromosomal mutation.

[4m]
(b) Downs syndrome is caused by chromosomal mutation. Explain how this may occur.

[5m]

(c) Describe what is frameshift mutation.

[6m]
8

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Bio3TC17-Mutation-QA

13.(a)

4
Gene mutation
Change in the nucleotide sequence in
a particular gene;
Small scale alteration;
Can sometimes be corrected;
Only a slight structural alteration;

.(b)

.(c)

Chromosomal mutation
Change in several genes in the
1/0
chromosome;
Large scale alteration;
1/0
Hardly corrected;
1/0
Are either numerical or structural
1/0
changes in the entire DNA strand;
Down syndrome is an example of aneuploidy that is instead of 46 chromosomes there are
47 chromosomes in the individual;
it is a result of non-disjunction during meiosis.
the two chromosomes number 21 fail to separate during anaphase I or anaphase II of
meiosis;
the gametes produced contain 24 chromosomes (2 copies of 1 chromosome 21) and 22
chromosomes (no chromosome 21);
when a sperm containing 23 chromosomes fuses with an ovum containing 24
chromosomes and the zygote formed contains three chromosome 21, trisomy;
the individual may be a male or female usually with flat, broad faces, slanted eyes, short
palms and are mentally retarded.
an alteration in the normal reading frame of a gene caused by an insertion or deletion in a
DNA sequence;
results if the number of inserted or deleted nucleotides is not divisible by three, i.e., the
number of nucleotides per codon;
DNA sequences are read three nucleotides at a time (codond) and each codon correspond
to a specific amino acid or stop signal;
during translation, the sequence of codons is read in order to synthesis a polypeptide chain;
will alter all the amino acids encoded by the gene following the mutation;
proteins synthesised are unable to function properly or at all
possibly result in any number of genetic disorders depending on the gene in which the
insertion or deletion occurs

1
1
1
1
1
1
1
1
1
1
1
1
1

TAH