Mutations and Gene Editing D - 1 - 3 - 2025 - Topic - Test
Mutations and Gene Editing D - 1 - 3 - 2025 - Topic - Test
Mutations and Gene Editing D - 1 - 3 - 2025 - Topic - Test
4. Single nucleotide polymorphisms (SNPs) are a form of mutation. Which of the following is the
best description of an SNP in the DNA base sequence?
A. A substitution of a single base.
B. The addition of a single base.
C. A change in a polypeptide sequence.
D. The deletion of a DNA base.
5. The HTT gene in humans is found on human chromosome 4 at position 16.3. It is unusual in
that the gene has a repeating sequence of the triplet CAG which translates to the amino acid
glutamine. The repeating sequences occur at the beginning of the gene and the number of
these CAG repeats varies. If it is between 7 and 35 there is no effect on the individual, but a
greater number of repeats can lead to the Huntingtin protein being non-functional. This can
cause developmental problems in those who possess this variant of the gene, resulting in an
inherited condition known as Huntington disease. The severity of the disease is linked to the
number of CAG repeats.
..............................................................................................................................................
b) Explain how a mutation increasing the number of CAG repeats would alter the polypeptide
sequence of the HTT protein. (1 marks)
.......................................................................................................................................
..............................................................................................................................................
.......................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
8. Suggest two hypotheses for the presence in many species of highly conserved DNA
sequences, that have changed very little during evolution. (2 marks)
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
9. Outline how gene knockout can aid scientists to determine the function of a gene. (3 marks)
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................
.............................................................................................................................................
..............................................................................................................................................
..............................................................................................................................................