1
Q
Name 6 types of mutations
A
- substitutions
- deletions
- insertions
- inversions
- transpositions
- chromosomal
2
Q
What are substitutions?
A
When one base is replaced with another
3
Q
Name 4 different types of substitution mutations
A
- Synonymous - produce same amino acid
- Non-synonymous - produce different amino acid
- Nonsense - stop codon produced causing truncation
- Readthrough - causes extension
4
Q
What does 1/2 nucleotide loss/addtion result in?
A
Frameshift mutation where coding region from that point forward is changed
5
Q
Name 3 different types of insertions/deletions and their consequences
A
- Deletion of regulatory sequence - causes uncontrolled transcription
- Deletion of core promoter - results in no transcription
- Duplications - can cause expression to double/triple, copy can accumulate mutations causing a pseudogene (pseudogenisation) or can remain functional and adopt a different action (neofunctionalisation)
6
Q
What are inversions?
A
180 degree rotation of a segment of a gene, function can be maintained if breakpoint is outside of the gene
7
Q
What is transposition?
A
When a segment of DNA moves to a new position either on a closeby or to a non-homologous chromosome. This can be reciprocal or non-reciprocal.
Transposable elements can insert themselves on to different positions on a gene
