random stuff exam 1 Flashcards
what is the enzyme involved in PKU?
phenylalanine hydroxylase
what happens if both genes for the enzyme phenylalanine hydroxylase are mutated in PKU?
a person cant metabolize phelylalanine
what does a build up of phenylalanine do
damage CNS and lead to severe mental retardation
what can prevent the development of mental retardation in PKU
low phenylalanine diet within one month of birth
what occurs with the pancreas in cystic fibrosis?
it cant secrete digestive enzymes which leads to malabsorption
what occurs with sweat glands in cystic fibrosis?
there are high chloride levels in sweat
what does lower airway inflammation and chronic bronchial infection lead to in cystic fibrosis?
fibrosis of lung tissue and end stage lung disease
what mutation can lead to HBOC or FA
BRCA2
what 2 disorders have reduced/incomplete penetrance
HBOC and retinoblastoma
clinical symptoms of huntingtons
motor loss, dementia, psychiatric disorders
when is huntingtons usually acquired? how long do ppl live after that?
age 30-50 and live 15-2o yrs
what % of genes do we have in common with our parents, kids, and siblings
50%
what % of genes do we have in common with our aunts, uncles, nieces, nephews, and grandparents
25%
what % of genes do we have in common with our first cousins
12.5%
who is consanguinity seen more often in?
families with rare recessive diseases (vs families with common recessive diseases)
