Inheritance quiz Flashcards
achondroplasia (FGF-R 3)
AD
adult PKD (APKD1, chromosome 16)
AD
albinism
AR
Bruton’s agammaglobinemia
XLR
cystic fibrosis
AR
Duchenne (and Becker’s)
XLR
Fabry’s
XLR
familial adenomatous polyposis (APC gene, chromosome 5)
AD
familial hypercholesterolemia (LDL-R)
AD
fragile x
CGG repeats
Friedrich’s ataxia
AR (GAA repeats, chromosome 9)
G6PD deficiency
XLR
glycogen storage diseases
AR
hemochromatosis
AR
Hemophilia A and B
XLR
hereditary hemorrhagic telangiectasias = Osler-Weber-Rendu syndrome
AD
hereditary spherocytosis (spectrin or ankyrin)
AD
Hunter’s syndrome
XLR
Huntington (chromosome 4)
AD
infantile PKD
AR
Lesch-Nyhan syndrome
XLR
Marfan’s
AD
MEN
AD
mucopolysaccharidoses (except Hunter’s)
AR
myotonic dystophy
CTG repeats
NF-1 = von Ricklinghausen’s disease (q17)
AD
NF-2 (chromosome 22)
AD
ocular albinism
XLR
PKU
AR
sickle cell
AR
sphingolipidoses (except Fabry’s)
AR
thalassemias
AR
Tuberous sclerosis
AD
von Hippel-Lindau (VHL tumor suppressor gene, chromosome 3)
AD
Wiscott-Aldrich syndrome
XLR