Chromosomes and diseases

Question 1

Type 1 diabetes mellitus

Answer 1

HLA- DR3, HLA- DR4

Question 2

Von Hippel-Lindau disease

Answer 2

chromosme 3

Question 3

Cystic fibrosis

Answer 3

Chromosome 7

defect in CFTR – atp gated cl- channel

Question 4

ADPKD with PKD2 defect

Answer 4

chromosome 4

Question 5

Huntington disease

Answer 5

chromosome 4

- trinucleotide repeat: CAG

Question 6

Cri-du chat

Answer 6

chromosome 5

Question 7

Familial adenomatous polyposis

Answer 7

chromosome 5

• APC genes
• colon becomes covered with adenomatous polyps after puberty

Question 8

Friedreich ataxia

Answer 8

chromosome 9 – GAA trinucleotide repeat

Question 9

Wilms tumor

Answer 9

chromosome 11

Question 10

Patau syndrome, Wilson syndrome

Answer 10

chromosome 13

Question 11

Prader Willi syndrome, Angelman syndrome

Answer 11

chromosome 15

Question 12

ADPK with PKD1 defect

Answer 12

chromosome 16

Question 13

Neurofibromatosis type 1

Answer 13

chromosome 17

Question 14

Edwards syndrome

Answer 14

chromosome 18

Question 15

Down syndrome

Answer 15

chromosome 21

Question 16

Nerofibromatosis type 2

Answer 16

chromosome 22

Question 17

Digeorge syndrome

Answer 17

chromosome 22 ( 22q11)

Question 18

Fragile X syndrome, X-linked agammaglobulinemia,

Klinefelter syndrome

Answer 18

X chromosome

Question 19

hemochromoatosis

Answer 19

HLA- A3

Question 20

reactive arthritis

Answer 20

HLA- B27

Question 21

Celiac disease

Answer 21

Chromosme DQ2/8

Question 22

Graves disease

Answer 22

HLA- DR3

Question 23

Hashimoto thyroiditis

Answer 23

HLA- DR3, HLA- DR5

Question 24

Pernicious anemia

Answer 24

HLA-DR5

Question 25

SLE

Answer 25

HLA- DR3

Question 26

Good pasture

Answer 26

HLA- DR2

Question 27

Multiple Sclerosis

Answer 27

HLA- DR2

Question 28

Hay fever

Answer 28

HLA-DR2