genetics and imaging Flashcards
if horizontal appearance of phenotype between siblings, likely what type of genetics
autosomal recessive
mitochondrial inheritance is transmitted by mum or dad
mum only - fathers do not transmit mitochondrial genes
how is mitochondrial inheritance different from mitochondrial disease
mitochondrial disease can be passed down by mum or dad, bc there are mitochondrial genes in the nuclear genome
enzyme deficient in albinism
tyrosinase
what is osteogenesis imperfecta, what is main effect of mutation
defect in collagen causes kink and prevents strand alignment, main effect is brittle bones, autosomal dom or reces
ehlers danlos syndrome, type of inheritance
mutations in collagen infer tendon flexibility, autosomal dom
prenatal testing for what genetic disease
PKU
congenital hypothyrodism
CF
galactosaemia
PKU and CF inheritance pattern
autosomal rec
what is problem in PKU
lack of phenylalanine hydroxylase leads to elevated phenylpyruvate which damages brain (and inhibits tyrosinase)
what do you test for to test for CF
elevated immunoreactive trypsinogen
cretinism
primary congenital hypothyroidism
what is most common cause of preventable intellectual disabiliyt
primary congenital hypothyroidism
when in development do you have embryonic vs foetal Hb
embryonic 1st 3 months
foetal after 3 months
alpha thalasaemia most common in which countries
south east asia
beta thalasaemia most common in which countries
south europe and middle east
