Biochem

Front 1

yellow-orange crystal of uric acid in a babies diaper are a clue to what?

Back 1

lesch nyhan syndrome. failure to degrade purines results in excess uric acid production
symptoms include self mutilating behavior, renal failure, and arthritis (gouty)

Front 2

hemolytic anemia could be caused by what metabolic disorders

Back 2

defiencies in enzymes of glycolytic pathway and G6P dehydrogenase

Front 3

scurvy
cause?
mechanism?
symptoms?

Back 3

Vit C deficiency
cant hydroxylate collagen normally --> weakness of blood vessel walls --> hemorrhages --> purpura --> ecchymoses

Front 4

niacin (B3) deficiency

Back 4

pellagra - dementia, diarrhea, dermatitis

Front 5

the enzyme that catalyzes the committed step of glycolysis

Back 5

Phosphofructokinase I

Front 6

achondroplasia

Back 6

autosomal dominant disorder (dwarfism) due to point mutation of the gene encoding fibroblast growth factor receptor – mutation results in constant activation which inhibits chondrocyte proliferation. Premature sealing of growth plates

Front 7

labeled DNA binds with complimentary RNA (if present)

Back 7

northern blotting

Front 8

DNA:DNA hybridization test

Back 8

southern blotting

SNoW DRoP

Front 9

By convension all peptide sequences are given in what direction?

Back 9

from N to C, the direction of translation

Front 10

Metabolism of ethanol

Back 10

is via alcohol dehydrogenase, which uses hydrogen from ethanol to form NADH from NAD+
increased NADH inhibits pyruvate dehydrogenase --> increased lactate

Front 11

Is fat gluconeogenic?

Back 11

FAs are not but the glycerol backbone is capable of being glucogenic. contributes 80% of glucose in dieting obese individuals

Front 12

smallest RNA?

Back 12

tRNAs are the smallest RNA thus they migrate the farthest when subjected to electrophoresis

Front 13

Microsatellite instability is characteristic of individuals with mutations in what repair genes?

Back 13

mismatch repair genes

Front 14

A band in muscle

Back 14

spans the width of myosin filaments – doesn’t shorten when muscle contracts

Front 15

I band in muscle

Back 15

spans the are where there is actin filaments only – shortens when muscle contracts

Front 16

carnitine
location?
function?
symptoms of deficiency?

Back 16

inner mitochondrial membrane
catalyzes the movement of long chain FAs into the mitochondrial matrix
oDeficiency can cause: hypoglycemia, hyperammonemia, muscle weakness, myoglobinuria, confusion, fatty liver

Front 17

citrate shuttle
shuttles what?

Back 17

shuttles acetyl-CoA out of mitochondrial matrix into cell cytoplasm to be used for fatty acid synthesis

Front 18

what does heteroplasmy mean

Back 18

presence of normal and mutated mitochondrial DNA in an individual

Front 19

common chromosomal defects that lead to spontaneous abortion

Back 19

trisomy 16, triploidy (due to fertilization of an egg by 2 sperm) and 45 X,O

Front 20

DNA is written in what form? always

Back 20

DNA is given 5’ to 3’ always. Remember about coding strands

Front 21

Calcireticulin and calnexin are what?

Back 21

Calcireticulin and calnexin are chaperone proteins (quality control) – they bind to oligosaccharide containing terminal glucose residues, prevent them from going to golgi. These proteins are eventually degraded

Front 22

Zinc finger motif

Back 22

DNA binding proteins

Front 23

- The onset of preeclampsia before the 20th gestational week is suggestive of what?

Back 23

hydatiform mole

Front 24

All topoisomerases do what?

Back 24

-All topoisomerases can relax DNA to remove supercoils

Front 25

DNA gyrase is the only topoisomerase that does what?

Back 25

introduce negative supercoils into the DNA (to stabilize an underwound DNA helix)

Front 26

HNPCC is associated with what defect

Back 26

defect in mismatch repair