genetic diseases Flashcards
disorders with multifactorial inheritance (2)
cleft lip/palate
pyloric stenosis
heart defect associated with trisomy 21
AV canal
most common cause of trisomy 21
non-disjunction from mother
paternal cause of trisomy 21
robertsonian translocation (long arm of 21 onto 14 or 22)
defect in marfan syndrome
fibrillin-1 (scaffolding for elastin)
defect in EDS
collagen, type depends on which EDS
EDS type 4
type III procollagen
heterozygotes vs. homozygotes for familial hypercholesterolemia
hetero- disease in 40s/50s
homo- disease in teens-20s
most common genetic defect in CF
DF508 (Cl transporter)
tay-sachs gene
HEXA
tay-sachs enzyme
hexosaminidase A
accumulates in tay-sachs
GM2 gangliosides in lysosomes of neurons
sandhoff disease
HEXA and HEXB
Niemann-Pick genes
NPC1, NPC2, SMPD1
Niemann-Pick enzyme
sphingomyelinase
accumulates in Niemann-Pick
sphingomyelin in neurons, liver, spleen, bone marrow, others
characteristic histology for Niemann-Pick
concentric, lamented myelin bodies on EM
Gaucher enzyme
glucocerebrosidase
accumulates in Gaucher
glucocerebroside in WBCs, RBCs in bone marrow, spleen, liver
3 forms of gaucher
infantile (II)- severe
juvenile (III)- moderate
Adult (I)- mild