TOPIC 7: MUTATION

Part A: Multiple Choice Questions

1. During transcription of DNA, an extra cytosine was placed into a gene region, throwing
off the correct amino acid sequence. What type of mutation had occurred?
A. Translocation
B. Insertion
C. Base-pair substitution
D. Deletion

2. What type of mutation is in the following base sequence?

original: ATCGATCGCGAT
mutated: ATCGAACGCGAT

A. Insertion
B. Translocation
C. Substitution
D. Inversion

3. A point mutation that changes a codon specifying an amino acid into a stop codon is
called a
A. missense mutation.
B. nonsense mutation.
C. frameshift mutation.
D. deletion mutation.

4. Changing the codon AGC to AGA represents a ____ mutation.

A. missense
B. nonsense
C. frameshift
D. deletion

5. A mutation that causes a change in a single nucleotide in the DNA

A. will have no effect on the resulting protein
B. changes the corresponding nucleotide in the mRNA, resulting in a different codon
C. causes the codon to be correct, but the anticodon to be incorrect
D. causes protein synthesis to stop

6. Which of the following genotypes causes Klinefelter syndrome?

A. XO
B. XX
C. XXY
D. XYY
7. If a piece of DNA breaks off a chromosome and attaches itself to a non-homologous
chromosome at another location, what type of change has occurred?
A. Translocation
B. Duplication
C. Deletion
D. Inversion

8. Why are male mutation rates higher than female?

A. The Y chromosome is unstable
B. Men have only 1 X chromosome
C. More cells so more DNA
D. Greater number of germ cell divisions

9. When a chromosome is broken in two places and reconnected so that a region is flipped
from the normal order, this mutation is called...
A. inversion
B. duplication
C. deletion
D. reciprocal translocation

10. Mutation can result from:

A. certain types of drugs and radiation.
B. mistakes in the replication of DNA.
C. neither A nor B.
D. both A and B.
Part B: Structured Questions

1. FIGURE 1 below shows a pair of homologous chromosomes found in a diploid cell of a

sexually breeding organism. The alphabets on chromosome represent genes.

FIGURE 1

(a) Based on the diagram above, state THREE similarities between the homologous
chromosomes.
[3 marks]
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(b) State two differences between the homologous chromosome pair.

[2 marks]
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(c) What is the term given to chromosomal mutation that change the structure of the
chromosome.
[1 mark]
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 (d) If a chromosome P goes through mutation in which genes C, D, E and F are deleted,
draw the arrangement of the chromosomes during meiosis. In your drawing, label the
mutated chromosome.
[2 marks]

(e) If chromosome Q goes through mutation in which genes C, D, E and F are inversed,
draw the arrangement of chromosomes Q during meiosis. In your drawing, label the
mutated chromosome.
[2 marks]

2. FIGURE 2 below shows a karyotype of an individual having a Down Syndrome. A

karyotype is a picture that shows the chromosomes own by an individual.

FIGURE 2
a) State the sex of the individual and give a reason for your answer.
[2 marks]
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b) i. Down Syndrome is a genetic disease caused by chromosomal mutation, a type

of aneuploidy. What is meant by aneuploidy?
[2 marks]
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ii. Explain how aneuploidy occurs.

[2 marks]
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c) Referring to FIGURE 2, give two reasons why the person is considered as a Down
Syndrome.
[2 marks]

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d) State two characteristics of a person having Down syndrome.

[2 marks]

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3. FIGURE 3 below shows a non-disjunction occurring on sex chromosome during
oogenesis. A, B, C and D are individuals born as a product of abnormalities in the sex
chromosomes as a result of non-disjunction.

XX
Egg without sex Egg with 2 X sex
chromosome chromosome

Non-disjunction
XX

Normal

sperm X Y X Y

A B C D

FIGURE 3

Based on FIGURE 3 above, answer the questions below:

a) i. Name the abnormality of individual A.

[1 mark]
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ii. If individual A is married to a normal man, what is the possibility for them to have
a normal baby? Give your explanation.
[2 marks]
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b) If individual C is married to a normal man, what is the possibility to have;

i. a daughter with XXX genes

[1 mark]
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 ii. a normal son
[1 mark]
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iii. a son with abnormal chromosomes

[1 mark]
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c) i. List down the gametes for individual C.

[1 mark]
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ii. State the individual C sons genetic disease if she were married to a normal man.

[1 mark]

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d) Individual D is a man having abnormalities to his sex chromosomes due to a non

disjunction that occurs during the formation of his mothers ovum. Give one
characteristic that is shown by individual D.
[1 mark]
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e) What will happen to individual B?

[1 mark]
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4. FIGURE 4 below shows the genetic relationship between 2 Spartina grasses.

FIGURE 4

(a) State the number of chromosomes in hybrid A?

[1 mark]

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(b) State the name of hybrid A. Explain why hybrid A is sterile and how it reproduces.
[4 marks]
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(c) Explain process Q.

[2 marks]
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 (d) Explain why Spartina anglica is fertile and how it reproduces.
[4 marks]
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(e) The genotype of Spartina anglica can be written as 2n = 122 or 4n = 122. Explain the
meaning of each genotype.
[2 marks]
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Part C: Essay Questions

1. a) Explain the meaning of the following terms;

i. mutation
ii. mutant
iii. mutagen and give 2 examples of mutagen
[5 marks]

b) Explain what happens when one nucleotide is inserted into the middle of a
DNA molecule.
[5 marks]
2. a) Classify chromosomal mutation.
[2 marks]
b) Explain four types of chromosomal aberration.
[8 marks]
3. Describe the mutations that occur in DNA and chromosomes
[10 marks]