Mutations

Question 1

What is a mutation?

Answer 1

Are changes in DNA that can result in no protein or an altered protein being synthesised

Question 2

What are are single gene mutations?

Answer 2

These involve the alternation of a DNA nucleotide sequence due to substitution, insertion or deletion of nucleotides

Question 3

What can missense nucleotides result in?

Answer 3

One amino acid being changed for another resulting in either a non-functional protein or very little effect on the protein

Question 4

What can nonsense mutations result in?

Answer 4

In a premature stop codon being produced resulting in a shorted protein

Question 5

What can splice-site mutation result in?

Answer 5

In some introns being retained and/or some exons not being included in the mature transcript

Question 6

What can nucleotide insertions or deletions result in?

Answer 6

In frame-shift mutations meaning everything is moved so all amino acids after the mutation is changed, having a major effect on the structure of the protein produced

Question 7

What is duplication in relation to chromosome structure mutations?

Answer 7

This is where a section of a chromosome is added from its homologous partner

Question 8

What is deletion in relation to chromosome structure mutations?

Answer 8

This is where a section of a chromosome removed and the rest re-joined if needed

Question 9

What is inversion?

Answer 9

This is where a section of chromosome is reversed

Question 10

What is translocation?

Answer 10

This is where a section of a chromosome is added to a chromosome which is not its homologous partner