Mutations and Diseases Flashcards
1
Q
JAK2
A
PV (99%), ET (50%), MF (50%)
2
Q
5q-
A
MDS with 5q deletion
3
Q
BRCA1
A
Ca breast (2%), ovary, prostate, male breast pancreas
4
Q
BRCA2
A
Ca breast (1%), ovary, male breast (2>1), prostate, pancreas, stomach, melanoma
5
Q
APC
A
Familial Adenomatous Polyposis Coli
6
Q
∆F508
A
Cystic Fibrosis
7
Q
ATP7B on Chr13
A
Wilson’s / Hepatolenticular degeneration
8
Q
HFE on Chr6
A
Hereditary haemohromatosis
9
Q
Point mutation Glu -> Val
A
SCD
10
Q
403 Arg à Gln in MHC
A
HOCM
11
Q
45XO
A
Turner’s
12
Q
47XXY
A
Klinefelter’s
13
Q
Trisomy 21
A
Down’s
14
Q
Trisomy 18
A
Edward’s
15
Q
Trisomy 13
A
Patau’s
16
Q
Monosomy 5p
A
Cri du Chat
17
Q
Del 22q11
A
Di George
18
Q
Del 7q21
A
William’s
19
Q
Paternal 15q11-13
A
Prader-Willi
20
Q
Maternal 15q11-13
A
Angleman’s
21
Q
CGG repeat on Chr X
A
Fragile X
22
Q
CAG repeat on Chr 4
A
Huntington’s
