MUTATIONS Flashcards
1
Q
What are the DNA correcting mechanisms?
A
- 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
2
Q
What are silent mutations?
A
Base pair change that doesn’t change the amino acid sequence
3
Q
Missense mutations?
A
Changes codon from one amino acid to another - can be harmful
4
Q
Nonsense mutations?
A
Change from an amino acid into a stop codon
5
Q
What happens in mutations at splice sites?
A
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
6
Q
What is multifactorial inheritance?
A
A mutation that involves several variants of genes acting with environmental influence
7
Q
What is mendelian inheritance?
A
Variations involving a single gene
8
Q
What is copy number variation?
A
A mutation involving a chromosomal segment or a whole chromosome
