genetics pt2 growth Flashcards
1
Q
what is methylation for
A
imprinting
2
Q
what is trinucleotide for
A
repeating expansions
3
Q
hypochondroplasia
A
few specific activating mutations in FGFR3 gene
related to achondroplasia (but milder )
can cause temporal lobe epilepsy
4
Q
russell-silver syndrome
A
change in gene function
5
Q
clinical importance of methylation
A
abnormalities of it can cause genetic disease
can cause gene silencing in cancer
environment affects gene expression
makes mutation (C to T) more likely
6
Q
investigations for growth
A
IGF1
TFTs
coeliac screen
bone age x-ray
7
Q
treatment options for growth
A
GH
puberty induction
renal and cardiac
BP monitoring
annual blood screen - thyroid function, coeliac etc.
