questions Moldx Flashcards
Retinoblastoma gene mutations:
Can be hereditary or non-hereditary caused by mutations in the RB1 tumor suppressor gene. Autosomal dominant inheritance or one mutation and another mutation is acquired in the retinal cells in early childhood. Greatly increases the risk of developing cancer of the eye.
Mutations in these genes are associated with hereditary colon cancer
Lynch Syndrome is caused by mutations in MLH1, MSH2, MSH6, PMS2, and EPCAM.
Mutations associated with lung cancer
EGFR and KRAS mutations render them constitutively active, signaling cell proliferation
EGFR
MLH1, MSH2, MSH6 are
large and small subunits of Ribosome
rRNA
Nonsense and exon skipping
RAS mutations
exonuclease and endonuclease
telocentric
MSI
fragile X
Huntington disease
C an N terminus
tata box
how to identify ras mutations
muscular distropy
CFTR
Angelman vs Prader-willi
hplc
allelic discrimination primes gc clamp