Molecular 4

Question 1

Medium chain acyl-coenzyme A dehydrogenase def

Answer 1

microvesicular steatosis of liver and heart with hypoglycemia with fasting
ACADM gene

Question 2

Most common autosomal recessive dx in caucasians

Answer 2

CF, gene freq 1:20

Question 3

most common mutation in CF

Answer 3

delta F508, CFTR gene 7q

Question 4

newborn screening for CF

Answer 4

immunoreactive trypsinogen (increased in CF)

Question 5

sweat chloride test positive when

Answer 5

> 60meq/L

Question 6

Osler-Weber-Rendu dz

Answer 6

hereditary hemorrhagic telangeictasias

Question 7

most common inherited genetic defct in persons of northern european ancestry

Answer 7

hereditary hemochromatosis

Question 8

HH genetics

Answer 8

HFE gene 6p (C282Y)

Question 9

what test has sensitivity of >95% for HH

Answer 9

transferrin saturation >45%

Question 10

Location of iron in liver in HH

Answer 10

periportal hepatocytes

Question 11

genetics of Wilson

Answer 11

ATP7B gene Ch13

Question 12

Presentation of Wilsons

Answer 12

liver dz, neuropsychiatric, non-immune hemolysis

Question 13

Diseases assd AAT def

Answer 13

Wegener, other vasculitides

Question 14

Emphysemal in AAT

Answer 14

panacinar, basilar

Question 15

AAT on SPEP

Answer 15

decrease alpha 1 region, appears flattened

Question 16

Alagille syndrome clinical

Answer 16

disappearing bile duct syndrome

cholestasis, pulmonary stenosis, dysmorphic facies, butterfly vertebrae

Question 17

Alagille genetics

Answer 17

JAG1 gene, ligand for Notch transmembrane receptor

Question 18

Histology of HIrschprung

Answer 18

absense of ganglia, axonal hypertrophy,

Question 19

syndromes assd with Hirschsprung

Answer 19

Down, NF1, MEN2A, Waardenburg, congenital central hypoventilation, RIley-Day, Smith-Lemli-Opitz

Question 20

most common defect in CAH

Answer 20

21-hydroxylase

CYP21A6

Question 21

17-hydroxyprogesterone elevated in

Answer 21

all forms of CAH

Question 22

increased 17-OHP + what indicates severe salt-wasting dz

Answer 22

increased plasma renin

Question 23

Androgen insensitivity syndrome

Answer 23

AR mutation on Xp11

Question 24

Alport syndrome clinical

Answer 24

glomerulonephritis, hearing loss, ocular lesions

Question 25

alphort IHC

Answer 25

lack of staining for alpha5 chain of Collagen IV in skin, GMB, tubules

Question 26

AR polycystic kidney dz

Answer 26

cysts are collecting ducts, liver shows biliary plate malformation

Question 27

AR polycystic kidney dz gene

Answer 27

PKHD1 gene

Question 28

Increased sister chromatid exchanges in cytogenetic cultures exposed to bromodeoyuridine

Answer 28

Bloom syndorme

Question 29

Muscle biopsy in mitochondrial dz

Answer 29

ragged red fibers on trichrome