Chromosome : Disease associations

Question 1

Von Hippel Lindau Disease

Answer 1

Chromosome 3p

VHL gene

Question 2

Renal Cell Carcinoma

Answer 2

Chromosome 3p

Question 3

ADPKD

Answer 3

Chromosome 4

PKD2 gene for voltage linked calcium channels

Question 4

Achondroplasia

Answer 4

Chromosome 4

FGFR3 Gene; constitutively active Fibroblast growth factor receptor 3 which negatively regulates bone growth

Question 5

Huntington Disease

Answer 5

Chromosome 4

CAG trinucleotide repeat disorder in huntingtin gene

Question 6

Cri-du-chat syndrome

Answer 6

Chromosome 5p

Congenital deletion of short arm

Question 7

Familial adenomatous polyposis

Answer 7

Chromosome 5

APC Gene mutation

Question 8

Hemochromatosis

Answer 8

Chromosome 6p
HFE gene for a membrane protein, similar to MHC-1 proteins, that associates with Beta 2 Microglobulin to regulate iron uptake of transferrin (mutation causes excessive uptake)

Question 9

Williams Syndrome

Answer 9

Chromosome 7 long arm

Congenital microdeletion, gene region includes elastin gene

Question 10

Cystic Fibrosis

Answer 10

Chromosome 7
CTFR gene; Most commonly a deletion of three nucleotides resulting in the loss of PHENYLALANINE at position 508 (90% of cases)

Question 11

Friedreich ataxia

Answer 11

Chromosome 9
GAA trinucleotide disorder for the Frataxin gene (dec); an iron binding protein responsible for forming iron sulphur clusters

Question 12

Wilms tumor

Answer 12

Chromosome 11

Deletions on the p13 band

Question 13

B- Globin Gene Defects (eg, Sickle Cell, B-thalassemia)

Answer 13

Chromosome 11

Question 14

MEN 1

Answer 14

Chromosome 11

MEN1 menin gene

Question 15

Patau Syndrome

Answer 15

Chromosome 13

Question 16

Wilson Disease

Answer 16

Chromosome 13
ATP7B gene (wilson protein gene) which is a copper transporting atpase in the trans golgi network of liver and brain that balances copper level by excreting excess copper into bile and plasma

Question 17

Retinoblastoma

Answer 17

Chromosome 13
Tumor suppressor Rb protein which restricts cell from G1 to S by binding and inhibiting E2F; the complex of the two also attracts histone deacetylase to the chromatin reducing S phase protein transcription

Question 18

BRCA2

Answer 18

Chromosome 13

Tumor Suppressor Gene ; (assist in homologous recombination)

Question 19

Prader-Willi Syndrome

Answer 19

Chromosome 15
Either paternal gene is mutated/deleted or Maternal uniparental disomy where two maternal and no paternal is received (25%)

Question 20

Angelman Syndrome

Answer 20

Chromosome 15
Either maternal gene is mutated/deleted or paternal uniparental disomy where two paternal and no maternal is received (5%)

Question 21

Marfan Syndrome

Answer 21

Chromosome 15

FBN1 gene for fibrillin 1 (fibrillin 1 also sequesters TGFB so with dec fibrillin 1 TGF-B levels are elevated)

Question 22

ADPKD

Answer 22

Chromosome 16
PKD1 gene for a protein involved in the regulation of cell cycle and intracellular calcium transport in epithelial cells
(PKD1 gene is contiguous with the TSC2 gene)

Question 23

a-globin gene defects (eg, a-thalassemia)

Answer 23

Chromosome 16

Question 24

Neurofibromatosis type 1

Answer 24

Chromosome 17
NF-1 Gene for Neurofibromin which is a negative regulator of the ras signal transduction pathway (stimulates GTPase activity of Ras)

Question 25

BRCA 1

Answer 25

Chromosome 17

Tumor Suppressor Gene (repair chromosomal damage)

Question 26

p53

Answer 26

Chromosome 17
Tumor suppressor gene (guardian of genome); Holds growth at the G1/S regulation point when DNA damage is recognized, can activate DNA repair proteins or can initiate apoptosis (essential for the senescence response to short telomeres)

Question 27

Klinefelter Syndrome

Answer 27

XXY

Question 28

Neurofibromatosis Type 2

Answer 28

Chromosome 22

Merlin Gene: tumor suppressor cytoskeleton filament

Question 29

DiGeorge Syndrome

Answer 29

Chromosome 22q11 deletion

Question 30

Fragile X Syndrome

Answer 30

X Chromosome

CGG trinucleotide repeat in the FMR1 gene

Question 31

X linked agammaglobulinemia

Answer 31

X Chromosome

Recessive inheritance

Question 32

Tuberus Sclerosis type 2

Answer 32

Chromosome 16
Tuberin Protein  (is contiguous with PKD1)

Question 33

Tuberus Sclerosis type 1

Answer 33

Chromosome 9

Hamartin protein

Question 34

Tuberous Sclerosis type 2

Answer 34

Chromosome 16
Tuberin Protein  (is contiguous with PKD1)

Question 35

Tuberous Sclerosis type 1

Answer 35

Chromosome 9

Hamartin protein