Genes Flashcards
(33 cards)
1
Q
PKU
A
Phenylketonuria
2
Q
NOD2
A
Crohns
3
Q
COL1A
A
Ehler’s danlos
4
Q
CFTR
A
Cystic fibrosis
5
Q
HLD-DQ2
A
coeliac
6
Q
MSH1
MSH2
A
Hereditary non-polyposis colorectal cancer (HNPCC)
7
Q
APC
A
Familial adenomatous polyposis (FAP)
8
Q
LKB1
STK11
A
Peutz-Jegher’s syndrome
9
Q
KRAS
A
Pancreatic cancer
10
Q
HNF alpha
A
Maturity onset diabetes of the young
11
Q
FBN1(Fibrillin 1)
A
Marfans
12
Q
RB1
TP53
A
Osteosarcoma
13
Q
EWSR1
FLI1
A
Ewing sarcoma
14
Q
HFE (chromosome 6)
A
Haemochromatosis
15
Q
ADH receptor
A
Nephrogenic diabetes insipidus
16
Q
HLA-B27
A
Ankylosing spondylitis
17
Q
HLA-DRQ
A
SLE
MS
Leprosy
18
Q
FXN
A
Friedrich’s ataxia
19
Q
DMD
XP21
A
Duchenne’s muscular dystrophy
20
Q
SMA
A
Spinal muscular atrophy
21
Q
CMYC
A
Burkitt lymphoma
Diffuse large B cell lymphoma
22
Q
WT1
A
Wilm’s tumour
23
Q
VHL
A
Renal cell carcinoma
24
Q
RB
A
Retinoblastoma
Osteosarcoma
25
NF1 (chromosome 17)
Neurofibromatosis
26
APOE 4
Sporadic Alzheimer's
27
APP
PSEN1
PSEN2
Familial Alzheimer's
28
PARK
Parkinsons
29
CAG trinucleotide repeat
Huntington's
30
GAA trinucleotide repeat
Friedrich's ataxia
31
CTG trinucleotide repeat
Myotonic dystrophy
32
CGG trinucleotide repeat
fragile x
33
