MUTATIONS

Question 1

What are the DNA correcting mechanisms?

Answer 1

• DNA polymerase has a proof reading mechanism that proof reads every base and checks for errors
• Mismatch repair system if proof reading doesn’t work. It corrects 99% of residual errors

Question 2

What are silent mutations?

Answer 2

Base pair change that doesn’t change the amino acid sequence

Question 3

Missense mutations?

Answer 3

Changes codon from one amino acid to another - can be harmful

Question 4

Nonsense mutations?

Answer 4

Change from an amino acid into a stop codon

Question 5

What happens in mutations at splice sites?

Answer 5

Mutation results in the skipping of exons during splicing which results in exons being lost. This can result in changes to the size and content of a protein

Question 6

What is multifactorial inheritance?

Answer 6

A mutation that involves several variants of genes acting with environmental influence

Question 7

What is mendelian inheritance?

Answer 7

Variations involving a single gene

Question 8

What is copy number variation?

Answer 8

A mutation involving a chromosomal segment or a whole chromosome