Point Mutations Flashcards
1
Q
DJ1
A
Early onset Parkinson’s
Chromosome 1
2
Q
BMND3
A
Bone density
Chromosome 1
3
Q
GORAB
A
Chromosome 1
Geroderma osteodysplasticum
4
Q
NRCLP3
A
Narcolepsy
Chromosome 21
5
Q
RUNX1
A
Leukaemia
Chromosome 21
6
Q
KCNE2
A
Long QT syndrome (sudden heart failure)
Chromosome 21
7
Q
CSTB
A
Epilepsy
Chromosome 21
8
Q
APP
A
Alzheimer’s
Chromosome 21
9
Q
Describe Trisomy 21
A
Down’s syndrome Intellectual disabilities Non disjunction Epilepsy Almond eyes Heart problem Etc
10
Q
Describe trisomy 18
A
Edwards syndrome Intellectual disabilities Small Clenched fists Kidney abnormalities Difficulty feeding Infant death
