Molecular 4 Flashcards
Medium chain acyl-coenzyme A dehydrogenase def
microvesicular steatosis of liver and heart with hypoglycemia with fasting
ACADM gene
Most common autosomal recessive dx in caucasians
CF, gene freq 1:20
most common mutation in CF
delta F508, CFTR gene 7q
newborn screening for CF
immunoreactive trypsinogen (increased in CF)
sweat chloride test positive when
> 60meq/L
Osler-Weber-Rendu dz
hereditary hemorrhagic telangeictasias
most common inherited genetic defct in persons of northern european ancestry
hereditary hemochromatosis
HH genetics
HFE gene 6p (C282Y)
what test has sensitivity of >95% for HH
transferrin saturation >45%
Location of iron in liver in HH
periportal hepatocytes
genetics of Wilson
ATP7B gene Ch13
Presentation of Wilsons
liver dz, neuropsychiatric, non-immune hemolysis
Diseases assd AAT def
Wegener, other vasculitides
Emphysemal in AAT
panacinar, basilar
AAT on SPEP
decrease alpha 1 region, appears flattened
Alagille syndrome clinical
disappearing bile duct syndrome
cholestasis, pulmonary stenosis, dysmorphic facies, butterfly vertebrae
Alagille genetics
JAG1 gene, ligand for Notch transmembrane receptor
Histology of HIrschprung
absense of ganglia, axonal hypertrophy,
syndromes assd with Hirschsprung
Down, NF1, MEN2A, Waardenburg, congenital central hypoventilation, RIley-Day, Smith-Lemli-Opitz
most common defect in CAH
21-hydroxylase
CYP21A6
17-hydroxyprogesterone elevated in
all forms of CAH
increased 17-OHP + what indicates severe salt-wasting dz
increased plasma renin
Androgen insensitivity syndrome
AR mutation on Xp11
Alport syndrome clinical
glomerulonephritis, hearing loss, ocular lesions
alphort IHC
lack of staining for alpha5 chain of Collagen IV in skin, GMB, tubules
AR polycystic kidney dz
cysts are collecting ducts, liver shows biliary plate malformation
AR polycystic kidney dz gene
PKHD1 gene
Increased sister chromatid exchanges in cytogenetic cultures exposed to bromodeoyuridine
Bloom syndorme
Muscle biopsy in mitochondrial dz
ragged red fibers on trichrome
