Flashcards in Chromosomes and diseases Deck (28)
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1
Type 1 diabetes mellitus
HLA- DR3, HLA- DR4
2
Von Hippel-Lindau disease
chromosme 3
3
Cystic fibrosis
Chromosome 7
defect in CFTR -- atp gated cl- channel
4
ADPKD with PKD2 defect
chromosome 4
5
Huntington disease
chromosome 4
- trinucleotide repeat: CAG
6
Cri-du chat
chromosome 5
7
Familial adenomatous polyposis
chromosome 5
-APC genes
-colon becomes covered with adenomatous polyps after puberty
8
Friedreich ataxia
chromosome 9 -- GAA trinucleotide repeat
9
Wilms tumor
chromosome 11
10
Patau syndrome, Wilson syndrome
chromosome 13
11
Prader Willi syndrome, Angelman syndrome
chromosome 15
12
ADPK with PKD1 defect
chromosome 16
13
Neurofibromatosis type 1
chromosome 17
14
Edwards syndrome
chromosome 18
15
Down syndrome
chromosome 21
16
Nerofibromatosis type 2
chromosome 22
17
Digeorge syndrome
chromosome 22 ( 22q11)
18
Fragile X syndrome, X-linked agammaglobulinemia,
Klinefelter syndrome
X chromosome
19
hemochromoatosis
HLA- A3
20
reactive arthritis
HLA- B27
21
Celiac disease
Chromosme DQ2/8
22
Graves disease
HLA- DR3
23
Hashimoto thyroiditis
HLA- DR3, HLA- DR5
24
Pernicious anemia
HLA-DR5
25
SLE
HLA- DR3
26
Good pasture
HLA- DR2
27
Multiple Sclerosis
HLA- DR2
28
