Question 1

CALCULATOR

What three processes can increase variation in a population?

1 2 3

A. Mutation Mitosis Meiosis

B. Meiosis Asexual reproduction Sexual reproduction

C. Sexual reproduction Mutation Meiosis

D. Binary fission Asexual reproduction Mutation

Difficulty: EASY
C

Explanation‾Explanation:
Sexual reproduction results in variation as it is the fusion of genetically distinct gametes from two genetically different individuals.
Mutation results in variation as it produces new alleles. Meiosis results in variation as it produces new combinations of alleles.
Choice C is correct.

Choices A, B and D are incorrect as they all include either mitosis, asexual reproduction or binary fission, which all produce
genetically identical cells.

Question 2
CALCULATOR

What type of base substitution is being shown in the diagram?

[© Revision Village 2023. Created using MolView (https://molview.org)]

● A. Transversion

● B. Translation

● C. Transition

● D. Purine to purine

Difficulty: EASY
A

Explanation‾Explanation:
A transversion is when there is a swap between different base types, i.e. a purine replaces a pyrimidine, or a pyrimidine replaces a
purine. Choice A is correct.
Translation is the process by which a polypeptide chain is made from the genetic information obtained from a mRNA template;
Choice B is incorrect. A transition (Choice C) is when there is a swap between two of the same base types, i.e. purine to purine
(Choice D). Choices C and D are incorrect.

Question 3
CALCULATOR

Which is not a mutagen?

● A. Ultraviolet light

● B. Carbon monoxide

● C. Viruses

● D. Chemicals found in cigarettes

Difficulty: EASY
B

Explanation‾Explanation:
Mutagens are factors capable of causing a random change to DNA (a mutation). Carbon monoxide is a gas with a high affinity for
haemoglobin, but it does not cause changes to DNA. Choice B is correct.

Ultraviolet light, viruses, and chemicals found in cigarettes can cause changes to DNA, so they are all mutagens. Choices A, C and
D are incorrect.

Question 4
CALCULATOR

Which of the following statement(s) are possible consequences to a polypeptide if a base substitution mutation occurs?

I. A shorter polypeptide chain is translated

II. An altered polypeptide chain is translated

III. There is no change to the polypeptide sequence

● A. I and II only

● B. I and III only

● C. II and III only

● D. I, II and III

Difficulty: EASY
D

Explanation‾Explanation:
A base substitution is when one nucleotide randomly replaces another in a sequence causing a single nucleotide polymorphism.
This can result in a shorter polypeptide being translated (Statement I) due to the base change causing a stop codon to appear
earlier in the DNA/mRNA sequence. It can also cause an altered polypeptide chain to be translated (Statement II) if the base
substitution causes a different amino acid to be translated. It can also have no effect on the polypeptide that is translated
(Statement III), as the genetic code is degenerate, meaning many codons code for the same amino acid. Choice D is therefore
correct.
Choices A, B and C are incorrect, as they do not include all three statements.

Question 5
CALCULATOR

Which of these does not cause mutations?

● A. Nitrosamines in tobacco

● B. Errors by DNA polymerase

● C. Telophase

● D. Radioactive isotopes

Difficulty: EASY
C

Explanation‾Explanation:
Telophase is a phase of cell division. During telophase, the chromosomes that were separated during anaphase are enclosed in
two new nuclear envelopes. Telophase is involved in the physical separation and distribution of chromosomes into daughter nuclei
but does not directly interact with or alter the DNA sequence and so does not lead to mutations. This makes Choice C the correct
answer. Nitrosamines are chemicals found in tobacco smoke that are highly carcinogenic. They can cause mutations in the DNA of
cells by altering the structure of DNA bases, leading to errors during DNA replication. Therefore, nitrosamines do cause mutations
and are linked to the development of various types of cancer, especially lung cancer. Choice A is therefore not the correct answer
to this question.

DNA polymerases are enzymes responsible for copying the DNA molecule during cell division. If they make errors it can result in
mutations if not corrected by the cell's repair mechanisms. Choice B is therefore not the correct answer to this question.

Radioactive isotopes emit radiation as they decay, which can be in the form of alpha particles, beta particles, or gamma rays. This
radiation can damage DNA, causing various types of mutations. Choice D is therefore not the correct answer to this question.

Question 6
CALCULATOR

The DNA sequence shown has been taken from exon 1 of DNA within the human insulin gene. Which sequence corresponds to a
deletion mutation in the sequence?

[Source: Adapted from NCBI]

● A. TACAAGGACAAGCTGCAT

● B. TACAAGAGACAAGCTGCA

● C. TACAAGGAAAGCTGCATC

● D. TACAAGGACAAGCGGCAT

Difficulty: EASY
C

Explanation‾Explanation:
Choice C is correct, as the 9th nucleotide in the sequence (C) has been deleted from the original sequence.

Choice A is incorrect as it is the exact same sequence as the original sequence. Choice B is incorrect as it represents an insertion
mutation, an adenine has been inserted in the 7th position. Choice D is incorrect as it represents a base substitution mutation, as G
has replaced a T in the 14th position.
Question 7
CALCULATOR

What is a possible cause of a genetic mutation?

● A. An organism’s need to adapt to the environment

● B. Random errors during DNA replication

● C. Physical damage to body tissue

● D. Random errors during transcription

Difficulty: EASY
B

Explanation‾Explanation:
Choice B is correct, as mutations are random changes to the DNA sequence and many of them occur during DNA replication.

Choice A is incorrect as mutations are random and not controlled by organisms. Choice C is incorrect as physical damage does
not affect the genome. Choice D is incorrect as errors during transcription will affect mRNA not DNA (the genome).

Question 8
CALCULATOR

In species that do not carry out sexual reproduction, what is a possible cause of variation?

● A. Meiosis

● B. Mitosis

● C. Mutation

● D. Growth

Difficulty: EASY
C

Explanation‾Explanation:
Mutation (Choice C) is correct as random changes to the DNA sequence can result in variation. Choice A is incorrect as meiosis
does not occur in organisms that do not carry out sexual reproduction. Choice B is incorrect as mitosis produces genetically
identical cells. Choice D is incorrect as growth does not result in genetic variation.

Question 9
CALCULATOR

The sequence of nucleotides in a section of DNA is as follows:

ATGGCTACCTGT

Which of the following mutations would represent a substitution?

● A. ATGGCTACTGT

● B. ATGGCCTACCTGT

● C. ATGGCACCTGT

● D. ATGGCCACCTGT

Difficulty: EASY
D
Explanation‾Explanation:
The sequence for Choice D contains the same number of bases as the original, but a cytosine has replaced thymine at position
six, making this a substitution.

Choices A and C cannot be correct since they have each lost one base, and so represent deletions. Choice B cannot be correct
since it has gained one base, and so represents an insertion.

Question 10
CALCULATOR

Which statement explains why some mutations have a neutral effect on the proteome?

● A. Only four bases are found in DNA

● B. The genetic code is degenerate

● C. Mutations are random

● D. Some mutations are dominant, while others are recessive

Difficulty: EASY
B

Explanation‾Explanation:
There are 64 possible codons in the genetic code, but only 20 amino acids. This means that multiple codons can code for the same
amino acid, so the code is degenerate. As a result, a mutation that changes one nucleotide in a codon may still code for the same
amino acid. Such mutations do not alter the amino acid sequence of the protein. As a result, they have a neutral effect on the
proteome. Choice B is correct.

Although only four nucleotide bases are found in DNA (Choice A) and mutations are random (Choice C), these are not reasons
that some mutations are neutral, Choice A and C are incorrect. Mutations are not dominant or recessive, alleles are; Choice D is
incorrect.

Question 11
CALCULATOR

Which statement(s) explain why mutations are necessary for natural selection?

I. Mutations introduce variation into a population

II. Mutations always introduce beneficial adaptations to a population

III. Mutations are always heritable

● A. I only

● B. I and III only

● C. III only

● D. I, II and III

Difficulty: EASY
A

Explanation‾Explanation:
Mutations are random changes to the DNA base sequence that can result in variation within a population (Statement I). Mutations
create new alleles (versions of a gene), some of which may be advantageous, while others may be neutral or harmful. If the new
alleles lead to some individuals having a selective advantage, they have a better chance of survival. Choice A is correct.

Mutations can have beneficial, neutral or harmful effects; Statement II is incorrect. Mutations are only heritable if they are in germ
cells (cells that develop into gametes); Statement III is incorrect. Choices B, C and D are incorrect as they all include statements
II and III.

Question 12
CALCULATOR

Which type of mutation can result in a frameshift?

● A. Deletion of a base from a non-coding sequence

● B. Substitution of one base for another in a coding sequence

● C. The wrong amino acid being incorporated into a growing polypeptide chain

● D. Insertion of four bases into a coding sequence

Difficulty: MEDIUM
D

Explanation‾Explanation:
A frameshift mutation occurs when nucleotides are inserted into or deleted from a coding sequence of DNA in a number that is not
a multiple of three. Since the genetic code is read in triplets (codons), any insertion or deletion that is not a multiple of three causes
a shift in the reading frame, changing the way the entire sequence is read. This can lead to the production of a completely different
amino acid sequence, potentially resulting in a nonfunctional or malfunctioning protein. Inserting four bases into a coding sequence
will, therefore, alter the sequence of amino acids. Choice D is correct.

Choice A is incorrect, as the deletion is in the non-coding sequence, so it will not be transcribed or translated and cannot cause a
frameshift mutation. Choice B is incorrect, as a substitution of one base can cause a change in a single amino acid, but it will not
cause the whole sequence to shift. Choice C is incorrect, as a frameshift mutation occurs in the DNA sequence, not the polypeptide
chain.

Question 13
CALCULATOR

Shown below is the single base substitution mutation that causes sickle cell anaemia in individuals who are homozygous for the
allele. Which of the following is a result of this mutation?

[© Revision Village 2022]

● A. Translation of one incorrect amino acid that affects the function of haemoglobin

● B. Production of haemoglobin that cannot bind to oxygen

● C. Translation of one incorrect amino acid that does not affect the function of haemoglobin

● D. Translation of two incorrect amino acids

Difficulty: MEDIUM
A

Explanation‾Explanation:
The haemoglobin that is produced by the sickle cell allele causes cells to become sickle-shaped in homozygous individuals
(Choice A). Choice B is incorrect because the haemoglobin that is produced can still bind to and transport oxygen. This single
base substitution translates one incorrect amino acid that causes haemoglobin to polymerize in blood vessels with low oxygen
concentrations (Choice C). This single base substitution causes the translation of one incorrect amino acid, not two. (Choice D).

Question 14
CALCULATOR

Which statement about mutations in germ and/or somatic cells is correct?

● A. Mutations in somatic cells can be inherited by offspring

● B. Mutations in germ cells cannot increase the likelihood of developing cancer

● C. Mutations in both somatic and germ cells can be inherited by offspring

● D. Mutations in somatic cells can be acquired during a lifetime

Difficulty: MEDIUM
D

Explanation‾Explanation:
Somatic cells are all the cells in the body other than the gametes, which are germ cells. Therefore mutations in somatic cells can
be acquired during a lifetime during DNA replication or via exposure to mutagens. Choice D is correct.

Choice A is incorrect because germ cells are involved in fertilisation not somatic cells, so mutations in somatic cells cannot be
inherited by offspring. Choice B is incorrect as mutations in genes such as oncogenes in germ cells can increase the likelihood of
the offspring developing cancer. Choice C is incorrect as mutations in somatic cells cannot be inherited by offspring.

Question 15
CALCULATOR

This table is a short section of the output from a DNA sequence database comparing the cytochrome C gene sequence in two
species. What does it show?

[© Revision Village 2022]

● A. These sequences are for two different genes

● B. There are two differences in the base sequence between the two species

● C. There are three differences in the base sequence between the two species

● D. There are four differences in the base sequence between the two species

Difficulty: MEDIUM
B

Explanation‾Explanation:
Choice B is correct because the base sequence is different at two locations (A and T in the 3rd position and T and A in the 6th
position).

It is not possible to tell from this sequence if they are two different genes. Additionally, the question states the sequences are
sections of the cytochrome C gene (Choice A). The base sequence differs at two locations, not three (Choice C). The base
sequence differs at two locations, not four (Choice D).
Question 16
CALCULATOR

A population of plants with no resistance to herbivores may develop into a population of plants that secrete a compound toxic to
herbivores. How could this change occur?

● A. The gene for the toxic compound was inherited from an ancestor of the plant population.

● B. A mutation during DNA replication, prior to meiosis, resulted in a DNA sequence that codes for the compound.

● C. The enzyme needed to produce the compound was transferred by a plant from another population.

● D. Individuals in the plant population mutated in response to the pressure from herbivores.

Difficulty: MEDIUM
B

Explanation‾Explanation:
The appearance of new traits in a population can only occur if the genetic sequence for the trait is introduced to the population.
Novel genetic sequences can result from several processes, one of which is through random mutations that occur during DNA
replication. If the mutated DNA sequence codes for a functional protein product, it can produce a new trait in the offspring. If the trait
is beneficial, the offspring will be more likely to survive and reproduce than other individuals in the population, and so the gene
sequence for the trait will increase in frequency in the population.

In the case of the plant population, the ability to secrete a toxic compound could initially occur if a mutation during DNA replication
resulted in a DNA sequence that codes for the compound (Choice B). Since this trait would likely be beneficial, as it protects
against herbivores, it would likely increase in frequency over time until the entire population expresses the trait.

Choice A is incorrect because if the gene had been inherited from an ancestor of the population, the population would have always
had the ability to secrete the toxic compound, rather than having no resistance to herbivores.

Choice C is incorrect because enzymes (proteins) cannot be transmitted between generations, so the receipt of an enzyme by one
individual would have no effect on the ability of future generations to produce the toxic compound.

Choice D is incorrect because mutations are random, not directional. An organism cannot mutate its DNA in response to an
environmental pressure. However, random mutations do sometimes occur which result in a selective advantage when selection
pressures change.

Question 17
CALCULATOR

[Maximum mark: 10]

Huntington’s disease is an inherited neurodegenerative disease. It is caused by a dominant allele resulting from multiple insertion
mutations in the HTT gene on chromosome 4. The images below show a neuron and brain from an individual affected by
Huntington’s disease compared to a healthy individual.
[© Revision Village 2023]

1. Distinguish between the phenotypes of the neuron and cross-section of the brain of the healthy individual and the
individual with Huntington’s disease. [2]

2. Deduce the genotype of the healthy individual. [1]

1. Explain how an insertion mutation can result in a frameshift. [2]

2. The insertion mutation in Huntington’s disease results in the translation of a longer polypeptide chain. Suggest
how this occurs. [1]

3. Deduce whether Huntington’s disease is caused by a germline or somatic cell mutation.[1]

4. Describe, using a Punnet square, how two biological parents with Huntington’s disease could have an unaffected child,
and state the probability of this occurring. [3]

Difficulty: MEDIUM
Question 18
CALCULATOR

[Maximum mark: 16]

1. Describe how a mutation may be a silent mutation. [3]

2. Outline five causes of gene mutations. [5]

3. Compare and contrast the consequences of mutations in somatic and germ cells. [7]

Difficulty: MEDIUM
Question 19
CALCULATOR

[Maximum mark: 5]

Different species of living organisms have different numbers of genes characteristic to them. The table shows the estimated number
of genes for five species.

Species Estimated number of genes

Escherichia coli (bacteria species) 4,000

Drosophila melanogaster (fruit fly) 13,000

Canis lupis familiaris (dog) 20,000

Homo sapiens (humans) 30,000

Oryza sativa (rice) 40,000

1.
Using the information in the table deduce the estimated number of loci in a human genome. [1]

2. Explain how a mutation can affect a characteristic. [4]

Difficulty: HARD
Question 20
CALCULATOR

[Maximum mark: 16]

1. Outline the outcomes of the Human Genome Project (HGP). [4]

2. Variation sometimes refers to the differences between individuals of the same species. Describe the role of genes in
variation. [3]

3. The frequency of the sickle cell allele is higher in regions of the world where malaria is prevalent. Explain the cause of
sickle cell anaemia and the correlation between the frequency of the sickle cell allele and the prevalence of malaria. [8]
Difficulty: HARD