Mutations

Question 1

name the two main types of mutations

Answer 1

point mutations and frameshift mutations

Question 2

point mutations are

Answer 2

single nucleotide variations

Question 3

frameshift mutations are

Answer 3

indels

Question 4

Point mutations (SNVs)

Answer 4

where one DNA base is replaced with another

Question 5

Frameshift mutations

Answer 5

addition or deletion of base changes the reading frame of the codons

Question 6

changing the reading frame means that

Answer 6

codons change–> may not code for the correct amino acid anymore –> wrong protein

Question 7

non-sense mutations

Answer 7

any mutation which causes a change in the DNA sequence to code for a STOP codon –> can be deleterious especially if near beginning of gene

Question 8

missense mutations

Answer 8

any mutation which changes an amino acid from one to another

Question 9

two types of missense mutations

Answer 9

synonymous

non-synonymous

Question 10

synonymous missense mutation

Answer 10

Silent- different codon code but same amino acid

Question 11

non-synonymous

Answer 11

code for different amino acid- can change protein

Question 12

mutations can cause (2)

Answer 12

• loss of function

- gain of function

Question 13

types of mutations which cause loss/ gain of function mutations

Answer 13

indels, repeat expansions (CNVs) and point mutations

Question 14

mutation within non-coding (intronic region)

Answer 14

cause loss of function mutations due to reduced transcription and translation meaning less of the protein is being made

Question 15

mutations within coding regions

Answer 15

can cause gain of canton (toxicity) or loss of functional proteins