Single Gene Disorders Flashcards
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
what is type II EDS caused by
missense muation in glycon codons
phenotype of type II EDS
black sclerea, severe deformity of skeleton, lethal before 1 mon of age
what causes type III EDS
missense muation in glycine codons
sypmtoms of type III EDS
progressive skeletal deformity, brittle bone
cause of type IV EDS
missesne muation in glycine codons
symptom of type IV EDS
moderate bone defmtiy, predisposition to bone fraction
heterozygote of familial hypercholestermia
elevate serum level of lipoprotein in serum (twice as high)
homozygote of familial hypercholestermia
elevated serum lele of lipoprotein(4 times as high)
loss of function muation in RET gene causes waht
hirschsprung disease
gain of function muation in RET gene causes what
multiple endocrine neoplasia
what is the milder varient of muscular dystrophy
becker
how are X linked dominatnt diseases transmitted
affected female transmits to half of her kids
how many genes does mitochondrial DNA encode
13
where are most genes for mitochondrial proteins found
in nucleus
what is the most prevalane tmitochondrial disorder
LHON
mode of inherance of achondroplasia
AD
mode of inherance of CF
AR
mode of inherance of EDS
AR and AD
mode of inherence of familial hyperchoelstermia
AD
mode of inherence of fructose 16 bisphophate defiency
AR
mode of inherence of glucose 6 phosphate dehydrogenase defncy
XR
mode of inherence of Huntington
AD
mode of inherence of neurofibrotosis
AD
mode of inherence of osteogenesis imperfect
AD
mode of inherence of PKU
AR
mode of inherence of sickle cell
AR
mode of inherence of sucrase-isomalatase defency
AR
