Genetic diseases / chromosomes Flashcards
1
Q
von hippau lindau
A
- VHL gene (tumor suppressor), deletion, chr 3p (3 words = chr 3)
- AD
- taking out tumor suppressor = growths –> cerebellar hemangioblastomas, clear cell RCC, pheochromocytomas
2
Q
NF-1
A
aka “von recklinghausen disease”
- NF1 gene, chr 17 (17 letters in “von recklinghausen”)
- AD
3
Q
wilm’s tumor
A
-WT-1 anti-oncogene, chr 11
4
Q
cystic fibrosis
A
- CFTR gene, Phe508 deletion (frameshift), chr 7
- AR
5
Q
duchenne muscular dystrophy
A
- DMD (dystrophin) gene, deletion (frameshift)
- X-linked
6
Q
becker muscular dystrophy
A
- DMD (dystrophin) gene, point mutation (missense)
- X-linked
7
Q
fragile X
A
- FMR1 gene, methylation –> activation
- also asst w/ triuncleotide repeat (CGG) and chromosomal gaps/breaks under partial replication stress (though not respondible for pathology)
- X-linked
- (2nd?) most common cause of genetic intellectual disability
8
Q
ADPKD
A
- PKD1 gene, chr 16 (16 letters in “polycystic kidney”)
- PKD2 gene, chr 4 (square root of 16)
- AD
9
Q
familial adenomatous polyposis
A
- APC gene, chr 5 (5 letters in “polyp”
- AD
10
Q
NF-2
A
- NF2 gene, chr 22 (NF-2 = chr 22; two 2s)
- AD
- affects LININGS; bilateral acoustic schwannoma
11
Q
sickle cell disease
A
- Hb ß-chain; position 6 glutamate–>valine (missense/point mutation)
- AR
12
Q
hemophilia A/B
A
- factor 8/9 deficiency (respectively)
- X-linked recessive
13
Q
huntington’s disease
A
- huntingtin gene; CAG trinucleotide repeat, chr 4 (“hunting 4 game”)
- AD
14
Q
Lesch-Nyhan syndrome
A
- HPGRT deficiency (purine salvage)
- X-linked recessive
15
Q
galactosemia
A
- galactose-1-phosphate uridyltransferase
- AR
