Chromosomes and diseases Flashcards
1
Q
Type 1 diabetes mellitus
A
HLA- DR3, HLA- DR4
2
Q
Von Hippel-Lindau disease
A
chromosme 3
3
Q
Cystic fibrosis
A
Chromosome 7
defect in CFTR – atp gated cl- channel
4
Q
ADPKD with PKD2 defect
A
chromosome 4
5
Q
Huntington disease
A
chromosome 4
- trinucleotide repeat: CAG
6
Q
Cri-du chat
A
chromosome 5
7
Q
Familial adenomatous polyposis
A
chromosome 5
- APC genes
- colon becomes covered with adenomatous polyps after puberty
8
Q
Friedreich ataxia
A
chromosome 9 – GAA trinucleotide repeat
9
Q
Wilms tumor
A
chromosome 11
10
Q
Patau syndrome, Wilson syndrome
A
chromosome 13
11
Q
Prader Willi syndrome, Angelman syndrome
A
chromosome 15
12
Q
ADPK with PKD1 defect
A
chromosome 16
13
Q
Neurofibromatosis type 1
A
chromosome 17
14
Q
Edwards syndrome
A
chromosome 18
15
Q
Down syndrome
A
chromosome 21
