Genetics Flashcards
1
Q
ADPKD
A
- PKD1 (chrom 16)
- PKD2 (chrom 4)
2
Q
Friedrich’s Ataxia
A
Frataxin gene - Chromosome 9
3
Q
CF
A
CFTR gene - Chromosome 7
4
Q
Myotonic Dystrophy
A
- MD Type 1 - DMPK gene, chrom 19
- MD Type 2 - CNBP gene, chrom 3
5
Q
Sickle Cell
A
- Point mutation in HBB gene, chrom 11
6
Q
Haemochromatosis
A
- HFE gene, Chromosome 6
7
Q
NF1
A
NF1 gene, chrom 17
8
Q
NF2
A
- NF2 gene, Chrom 22
9
Q
Tuberous Sclerosis
A
- TSC1, chrom 9
- TSC2, chrom 16
