Chromosomes and diseases Flashcards Preview

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Flashcards in Chromosomes and diseases Deck (28):
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

Hay fever

HLA-DR2