Genetic Mutations Flashcards
1
Q
What are the different types of gene mutations?
A
- addition
- deletion
- substitution
- inversion
- duplication
- translocation
2
Q
What are addition mutations?
A
- when a base is randomly added to a DNA sequence, resulting in a frame shift to the right
- harmful bc alters all successive codons, which can potentially code for diff AAs, resulting in a diff sequence of AAs + so a non-functioning protein
3
Q
What are deletion mutations?
A
- when a base is randomly deleted from a DNA sequence, resulting in a frame shift to the left
- harmful bc alters all previous codons, which can potentially code for diff AAs, resulting in a diff sequence of AAs + so a non-functioning protein
4
Q
What are substitution mutations?
A
- when a base in DNA sequence is randomly swapped for a diff. base, resulting in only 1 codon changing
- NO° of bases remain the same, so there’s no frame shift
- bc genetic code is degenerate, it can still code for same AA + so have no effect
5
Q
What are inversion mutations?
A
- when a section of bases detach from a DNA sequence + are inverted when re-joined, so section of code is back to front
- results in diff AAs being coded for in this section, resulting in a diff sequence of AAs + so a non-functioning protein
6
Q
What are duplication mutations?
A
- when a section of DNA bases are duplicated within the DNA sequence, resulting in a frame shift to the right
7
Q
What are translocation mutations?
A
- when a section of bases in a DNA sequence on 1 chromosome, detaches + attaches onto a diff chromosome
- can cause sig. impacts on gene expression + so resulting phenotype
8
Q
When do gene mutations usually occur?
A
- during DNA replication, which is during interphase in cell cycle
9
Q
What do gene mutations result in?
A
- a diff AA sequence in polypeptide chain, so when protein is modified into tertiary structure, H + ionic bonds form in diff places + fold differently, = a diff 3D shape, + so a non functioning protein
- however, some mutations have no effect bc codons are degenerate, + so can result in same AA being produced
10
Q
What causes gene mutations?
A
- mutations occur spontaneously, but frequency can be inc by mutagenic agents
11
Q
What are the types of mutagenic agents?
A
- high energy + ionising radiation: α + β particles, x-rays + gamma rays (UV light isn’t ionising, but is high enough to damage + disrupt DNA structure)
- carcinogens (chemicals that alter DNA structure + interfere w transcription): chemicals in tobacco smoke, mustard gas + peroxides