G8 Flashcards
describe an autosomal dominant inheritance and and give an example
half of offspring affected
unaffected individual doesnt transmit disease
eg. Anchroplasia - dwarfism
describe an autosomal recessive inheritance and give an example
ussually only one generation affected
if both parents carriers = 1/4 affect, 1/2 carries, 1/4 not affects
eg. CF
What is X linked recessive inheritance and give an example
carrier females transmit disease to half their sons and carrier status to half their daughters
eg. X linked haemophilia
c.76A>T
substitution A->T in coding DNA
c.76_78delACT
range of affected resieus 76-78 by deletion of ACT
c.76dupA
duplication at 76 of A base
c.76delA
deletion at 76 of A
c.76-83inv
inversion between 76 and 83
c.76_77insG
insertion but it duplication describe as duplication
G inserted between 76 adn 77
p:Lys76Asn
p refers to primary translation product
at AA 76 varient results in sub of asparagine instead of normal lysine
p.Tyr356X
X indicates a nonsense codon has been generated
c.1408+2T>G
second nucleotide after c.1408 that would normally be the invariant T of splice site is insead a G
c.789-1G>A
first nucletodie before c.780 that would normally be invariant G of splice site is now an A
c.69_71del(p.Val15del)
in frsame deletion deletes aa valine
c.546insA(p.Val170fs)
out of frame insertion inserted valine causing frameshift after 170