Biochem 87 Flashcards
1
Q
ADPKD is due to mutations on what genes? (2)
A
85% - PKD1 - Chromosome 16
15% - PKD2 - Chromosome 4
2
Q
FAP is due to mutations on what gene on what chromosome?
A
APC gene - Chromosome 5
3
Q
What are the findings in Hereditary Hemorrhagic Telangiectasia?
A
1) Telangiectasia
2) Recurrent epistaxis
3) Skin discolorations
4) AVM
5) GI bleeding
6) Hematuria
also known as Osler-Weber-Rendu syndrome
4
Q
Huntingtons gene is on what chromosome?
A
4
5
Q
What is the trinucelotide repeat in Huntingtons?
A
CAG
6
Q
What is the gene mutation in Marfans?
A
Fibrillin 1
7
Q
MEN 2A and MEN 2B are associated with what gene?
A
RET
8
Q
Describe the penetrance and expression of Tuberous Sclerosis
A
- Incomplete penetrance
- variable expression
9
Q
the VHL gene is a what?
A
Tumor suppressor
