Single Gene Disorders Flashcards
(51 cards)
compound heterozygote
two defective alleles that are not identical
haplionsufficiency
half of the gene dosafe may not be enough for a cell to carry out its function
dominant negative effect
muation produces abonormal protein that competes with the wildtype.
what does dominant negative effect normally effect
structual
lack of backup
inactivation of both alleles of a cell cycle control protein
do mitochondrial gene defects follow mendelian rules of inheritance
no
recurrance risk
parents have 1 affected child, what is the risk that their next child will ahve it as well
coefficent of inbreeding
degree of homozygosity of ac hild
what is the coefficent of inbreeding for children of siblings
1/4
what is the coefficent of inbreeding for a child of first cousins
1/16
inborn errors of metabolism
class of autosomal recessibe disorders caused by defects in metabolic enzymes
when do acute IEMs start
neonatal
what do chronic IEMS arise from
defects in stoarge and metabolism of large molecules
what is the most prevent iEM
PKU
where is teh defect in PKU
chromsome 12
CF results from a defect where
chromsome 7
penetrance
number of people with the mutation that acually get the disease
expressibity
how strong a disease phenotype shows
huntington results from a muation where
chromsome 4
anticipation
the severity of the disease increases with the number of repoeats
mutation of achondroplasia
FGFR3 on chromsome 4
dominant forms of EDS are caused by waht
muations in collagen genes
type I EDS symptom
brittle bone, blue scleras.
what is type I EDS caused by
null muation in procollagen alpha1gene
