Week 1 Flashcards
1
Q
females affected by skewed x inactivation
A
occasional manifesting carriers
2
Q
2 point motion detections
A
DNA sequencing, ARMS PCR
3
Q
2 deletions and duplications
A
MPLA, AChG(don’t need to know)
4
Q
1 anaploudy test
A
QF PCR
5
Q
2 chromosome based analysis
A
karyotyping
FISH
6
Q
5 genetics in breast cancer
A
BRCA 1 BRCA 2 PTEN PALB2 TP53
7
Q
3 ovarian cancer genes
A
MSH1/2 BRCA 1/2
8
Q
How does non polyposis colon cancer / Lynch syndrome occur
A
MMR
9
Q
genes causing HNPCC
A
MLH 1
MSH2
MSH 6
PMS 2
10
Q
which gene for familial adenomatous polyposis
A
APC
11
Q
which gene for MUTYH
A
BER DNA gylocslase
12
Q
4 li fruameni cancers
A
sarcoma
leukaemia
breast cancer
adrenal carcinoma
13
Q
sensitivity vs specificity
A
sensitivity = Tp
14
Q
2 abmodnrlies of penis
A
phimosis and peroniyes
15
Q
normal serum testosterone
A
12
