Mutations Flashcards
1
Q
What is a mutation?
A
- changes in the DNA that can result in no protein or an altered protein being synthesised
2
Q
What are the single gene mutations?
A
- substitution
- insertion
- deletion
3
Q
What is a missense mutation?
A
- one amino acid is changed for another resulting in either a non-functional protein or very little effect on the protein
4
Q
What is a nonsense mutation?
A
- a premature stop codon being produced resulting in a shortened protein
5
Q
What is a splice site mutation?
A
- some introns being retained and/ or some exons not being included in the mature transcript
6
Q
What are frame-shift mutations?
A
- insertions or deletions result in frame shift
- everything is moved so all amino acids after the mutation is changed having a major effect on the protein structure
7
Q
What are chromosome mutations?
A
- duplication
- deletion
- inversion
- translocation
8
Q
What happens in duplication?
A
- section of the chromosome is added from its homologous partner
9
Q
What happens in deletion?
A
- section of the chromosome is removed and the rest is rejoined if needed
10
Q
What happens in inversion?
A
- section of the chromosome is reversed
11
Q
What happens in translocation?
A
- section of the chromosome is added to a chromosome which is not its homologous partner
