Week 1 Flashcards
females affected by skewed x inactivation
occasional manifesting carriers
2 point motion detections
DNA sequencing, ARMS PCR
2 deletions and duplications
MPLA, AChG(don’t need to know)
1 anaploudy test
QF PCR
2 chromosome based analysis
karyotyping
FISH
5 genetics in breast cancer
BRCA 1 BRCA 2 PTEN PALB2 TP53
3 ovarian cancer genes
MSH1/2 BRCA 1/2
How does non polyposis colon cancer / Lynch syndrome occur
MMR
genes causing HNPCC
MLH 1
MSH2
MSH 6
PMS 2
which gene for familial adenomatous polyposis
APC
which gene for MUTYH
BER DNA gylocslase
4 li fruameni cancers
sarcoma
leukaemia
breast cancer
adrenal carcinoma
sensitivity vs specificity
sensitivity = Tp
2 abmodnrlies of penis
phimosis and peroniyes
normal serum testosterone
12
second line for ED
alprosadil a synthetic prostaglandin E