6. Mutation - Single Gene Mutation

Question 1

What is the definition of Mutations?

Answer 1

Changes in the genome that can result in no protein or an altered protein being expressed

Question 2

What are single gene mutations? (Give Three Examples)

Answer 2

Alterations of a DNA nucleotide sequence: nucleotide substitution, nucleotide insertion or nucleotide deletion

Question 3

Give three examples of single nucleotide substitutions

Answer 3

missense, nonsense and splice-site mutations

Question 4

What may a mutation do if it is within a gene (exon)?

Answer 4

alter protein structure

Question 5

What may a mutation do if it is at a regulatory sequence?

Answer 5

Alter gene expression

Question 6

What may a mutation do if it is at a splice site?

Answer 6

Alter post transcriptional processing (splicing)

Question 7

What do nucleotide insertions or deletions result in?

Answer 7

frame-shift mutations or an expression of a nucleotide sequence repeat