Mutations Flashcards
1
Q
Phenylketonuria
A
PAH gene, Arg408Trp
2
Q
Silent Carrier a-Thalassemia
A
HBA1/HBA2, 1/4 mutation
3
Q
a-Thalassemia
A
HBA1/HBA2, 2/4 mutation
4
Q
Haemoglobin H
A
HBA1/2, 3/4 mutation
5
Q
Hb Barts
A
HBA1/2, 4/4 mutation
6
Q
b-Thalassemia minor
A
HBB, 1/2 mutation
7
Q
b-Thalassemia major
A
HBB, 2/2 mutation
8
Q
Sick Cell Anaemia
A
HBB, p.Glu6Val, single amino acid change
9
Q
Haemochromatosis
A
HFE, p.Cys282Tyr, p.His63Asp, missense mutation
10
Q
Cystic Fibrosis
A
CFTR gene, deltaF508 (Phe508del)
11
Q
Achondroplasia
A
FGFR3 gene, p.Gly380Arg, dominant
12
Q
Hypochondroplasia
A
FGFR3 gene, p.Asn540Lys
13
Q
Huntington’s Disease
A
HTT, expansion of CAG repeats
14
Q
Myotonic Dystrophy
A
DMP gene, CTG repeats exceeding 37
15
Q
Retinoblastoma
A
RBI gene
