Genetics- Predisposition to Adult Diseases Flashcards
why are adults referred to the genetics clininc
for diagnosis predictive testing carrier testing family history fetal loss
what are the mechanisms of adult onset genetic disease
single gene
chromosomal
mitochondrial
multifactorial
explain prediction and uncertainty
test information must only be useable for prevention or treatment
susceptibility testing requires adequate information
predictive prequries proper counselling
children only tested if there are medical benefits of knowing
what is shared genetic heritage
genetic diseases which affect families
what are the genetics of ALS
generally sporadic
5-10% sporadic
what are the clinical features of amyotrophic lateral sclerosis
progressive muscle weakness
wasting
increased reflexes
death due to resp failure
what is SOD
superoxide dismutase function is it catalysis conversion of intracellular superoxide radicals producied during normal metabolsim
were is SOD present
chromosomes 21, 6 and 4
what would you discuss before testing
inhertiacne and the risks implications of positive or negative result variability insurance employment children
what is the genetics of huntingsons
autosomal domaint
50% chance of inheriting
what movements does it cause
chorea
athetosis
rigidity
what cognitive affects does it have
poor planing
memory
subcOtrical dementia
what affects does it have on personality
irrtaible
loss of emptahy
self centred
what psychiatric effects
depression
paranoid
mania
what are the advantages of testing
make plans
arrangement of surveillance
treatment
