Genetics, Ix Flashcards
1
Q
which is worse- monogenic or polygenic mutations
A
monogenic (single gene aetiology, v rare- involves single nucleotide variants, insertion/deletion, loss of function)
2
Q
5 modes of inheritance
A
autosomal dominant autosomal recessive x-linked (dom/rec) y-linked mitochondorial
3
Q
which hormones in pregnant woman cause inc insulin resistance
A
hPL and placental progesterone (both placenta-secreted)
4
Q
what is the gold standard thyroid function test
A
TSH= norm range is 0.4-4. >4 is underachieve thyroid
5
Q
what are normal ranges for thyroxine (T4) and T3
A
T4- 5-12
T3- 80-220
6
Q
main imaging for pituitary
A
MRI (snowman sign= macro adenoma)
7
Q
main imaging for thyroid
A
CT/ USS, thyroid scintigraphy
8
Q
main imaging for adrenals
A
CT/ MRI
9
Q
thyroid scintigraphy results
A
norm range is 0.5-3%. >3%= Grave’s
