Genome and mutations

Question 1

Results of a mutation

Answer 1

No protein expressed

Altered protein expressed

Question 2

Mutation that effects a few bases

Answer 2

Single gene mutation

Question 3

Mutation that effects structure of one or more chromosomes

Answer 3

Chromosome mutation

Question 4

Single gene mutations

Answer 4

Substitution

Insertion

Deletion

Question 5

Point mutations

Answer 5

misense
nonsense
splice-site

Question 6

misense

Answer 6

change in codon so different amino acid produced

may result in shape of protein so cannot carry out function

some changes in amino acid may not have significant effect

Question 7

nonsense

Answer 7

change codon from amino acid to stop codon

protein may be a lot shorter

non-functional or function affected

Question 8

splice site

Answer 8

affects boundaries between exons and introns

prevent splicing at site

different protein is made due to post transcriptional processing as some introns may be included or exons may be removed

Question 9

frame-shift mutation

Answer 9

Insertion and deletions cause

significantly alter and usually non-functional

Question 10

chromosome mutations

Answer 10

deletion
translocation - added to another which is not homologous partner
inversion
duplication - section added from homologous partner

often lethal

Question 11

Causes of mutation

Answer 11

Rare and random, can be inherited

Ionising radiation

Chemical mutagens