Mutations Flashcards
1
Q
Describe the term mutations
A
Changes in the DNA that can result in no protein or an altered protein being synthesised
2
Q
Describe a frameshift mutation
A
Causes all codons and all amino acids after the mutation to be changed
3
Q
What is Duplication
A
A section of a chromosome is added from its homologous partner
4
Q
What is deletion
A
A section of a chromosome is removed
5
Q
What is inversion
A
A section of a chromosome is reversed
6
Q
what is translocation
A
A section of a chromosome is added to a chromosome that is not its homologous partner
7
Q
what is a splice site mutation and what is the effect on protein formation
A
Nucleotide substitution results in some introns being retained and/or some ex ones not being included in the mature transcript
8
Q
4 types of single gene mutation
A
- Substitution - Missense
- Substitution - Nonsense
- Insertion - Frameshift
- Deletion - Frameshift
