Chromosome : Disease associations Flashcards
Von Hippel Lindau Disease
Chromosome 3p
VHL gene
Renal Cell Carcinoma
Chromosome 3p
ADPKD
Chromosome 4
PKD2 gene for voltage linked calcium channels
Achondroplasia
Chromosome 4
FGFR3 Gene; constitutively active Fibroblast growth factor receptor 3 which negatively regulates bone growth
Huntington Disease
Chromosome 4
CAG trinucleotide repeat disorder in huntingtin gene
Cri-du-chat syndrome
Chromosome 5p
Congenital deletion of short arm
Familial adenomatous polyposis
Chromosome 5
APC Gene mutation
Hemochromatosis
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)
Williams Syndrome
Chromosome 7 long arm
Congenital microdeletion, gene region includes elastin gene
Cystic Fibrosis
Chromosome 7
CTFR gene; Most commonly a deletion of three nucleotides resulting in the loss of PHENYLALANINE at position 508 (90% of cases)
Friedreich ataxia
Chromosome 9
GAA trinucleotide disorder for the Frataxin gene (dec); an iron binding protein responsible for forming iron sulphur clusters
Wilms tumor
Chromosome 11
Deletions on the p13 band
B- Globin Gene Defects (eg, Sickle Cell, B-thalassemia)
Chromosome 11
MEN 1
Chromosome 11
MEN1 menin gene
Patau Syndrome
Chromosome 13
Wilson Disease
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
Retinoblastoma
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
BRCA2
Chromosome 13
Tumor Suppressor Gene ; (assist in homologous recombination)
Prader-Willi Syndrome
Chromosome 15
Either paternal gene is mutated/deleted or Maternal uniparental disomy where two maternal and no paternal is received (25%)
Angelman Syndrome
Chromosome 15
Either maternal gene is mutated/deleted or paternal uniparental disomy where two paternal and no maternal is received (5%)
Marfan Syndrome
Chromosome 15
FBN1 gene for fibrillin 1 (fibrillin 1 also sequesters TGFB so with dec fibrillin 1 TGF-B levels are elevated)
ADPKD
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)
a-globin gene defects (eg, a-thalassemia)
Chromosome 16
Neurofibromatosis type 1
Chromosome 17
NF-1 Gene for Neurofibromin which is a negative regulator of the ras signal transduction pathway (stimulates GTPase activity of Ras)
BRCA 1
Chromosome 17
Tumor Suppressor Gene (repair chromosomal damage)
p53
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)
Klinefelter Syndrome
XXY
Neurofibromatosis Type 2
Chromosome 22
Merlin Gene: tumor suppressor cytoskeleton filament
DiGeorge Syndrome
Chromosome 22q11 deletion
Fragile X Syndrome
X Chromosome
CGG trinucleotide repeat in the FMR1 gene
X linked agammaglobulinemia
X Chromosome
Recessive inheritance
Tuberus Sclerosis type 2
Chromosome 16 Tuberin Protein (is contiguous with PKD1)
Tuberus Sclerosis type 1
Chromosome 9
Hamartin protein
Tuberous Sclerosis type 2
Chromosome 16 Tuberin Protein (is contiguous with PKD1)
Tuberous Sclerosis type 1
Chromosome 9
Hamartin protein
