Mutations Flashcards
1
Q
Single nucleotide polymorphism
A
Anonymous SNP - no known affect
Non coding SNP - outside gene
Coding SNP - inside gene
2
Q
Transversion
A
Pyrimidine to purine vice versa
3
Q
Missense
A
Substitution
4
Q
Silent mutation
A
No effect
5
Q
Frame shift
A
All successive bases change
Change polypeptide length
6
Q
Nonsense
A
Substitution into stop code
Shorter
7
Q
Pericentric inversion
A
Over p and q arms
8
Q
Paracentric inversion
A
Within arm
9
Q
Polyploidy
A
Gain another haploid set of chromosomes
69 chromosome
Polyspermy
10
Q
Aneuploidy
A
Different number of chromosomes
Non disjunction in meiosis 1
Trisomy or monomy
Down syndrome
Turner syndrome
11
Q
Mosaicism
A
Presence of 2 or mor cell lines
Non disjunction in mitosis after the first zygotic division
12
Q
FISH
A
Flourescent in situ hybridisation
