w4 - genetics Flashcards
1
Q
monogenic disorders
A
defect in single gene
2
Q
6 patterns of inheritance in monogenic
A
AD, AR, XLD, XLR, Y-linked, mitochondrial
3
Q
penetrance
A
level of susceptibility to having disease if having the mutation
4
Q
2 carrier parents, 50% offspring carriers, 25% unaffected
A
autosomal recessive
5
Q
men1 is called 3 P coz it affects
A
pituitary
parathyroid
pancreas
6
Q
3 main things in MEN2
A
medullarly thyroid cancer
pheochromocytoma
parathyroid diseaseq
7
Q
MEN2 is a umour suppressor disorder t.f
A
false
proto-oncogene
8
Q
phaeochromocytoma are tumours in the
A
adrenal medulla
