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26 Cards in this Set

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yellow-orange crystal of uric acid in a babies diaper are a clue to what?
lesch nyhan syndrome. failure to degrade purines results in excess uric acid production
symptoms include self mutilating behavior, renal failure, and arthritis (gouty)
hemolytic anemia could be caused by what metabolic disorders
defiencies in enzymes of glycolytic pathway and G6P dehydrogenase
scurvy
cause?
mechanism?
symptoms?
Vit C deficiency
cant hydroxylate collagen normally --> weakness of blood vessel walls --> hemorrhages --> purpura --> ecchymoses
niacin (B3) deficiency
pellagra - dementia, diarrhea, dermatitis
the enzyme that catalyzes the committed step of glycolysis
Phosphofructokinase I
achondroplasia
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
labeled DNA binds with complimentary RNA (if present)
northern blotting
DNA:DNA hybridization test
southern blotting

SNoW DRoP
By convension all peptide sequences are given in what direction?
from N to C, the direction of translation
Metabolism of ethanol
is via alcohol dehydrogenase, which uses hydrogen from ethanol to form NADH from NAD+
increased NADH inhibits pyruvate dehydrogenase --> increased lactate
Is fat gluconeogenic?
FAs are not but the glycerol backbone is capable of being glucogenic. contributes 80% of glucose in dieting obese individuals
smallest RNA?
tRNAs are the smallest RNA thus they migrate the farthest when subjected to electrophoresis
Microsatellite instability is characteristic of individuals with mutations in what repair genes?
mismatch repair genes
A band in muscle
spans the width of myosin filaments – doesn’t shorten when muscle contracts
I band in muscle
spans the are where there is actin filaments only – shortens when muscle contracts
carnitine
location?
function?
symptoms of deficiency?
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
citrate shuttle
shuttles what?
shuttles acetyl-CoA out of mitochondrial matrix into cell cytoplasm to be used for fatty acid synthesis
what does heteroplasmy mean
presence of normal and mutated mitochondrial DNA in an individual
common chromosomal defects that lead to spontaneous abortion
trisomy 16, triploidy (due to fertilization of an egg by 2 sperm) and 45 X,O
DNA is written in what form? always
DNA is given 5’ to 3’ always. Remember about coding strands
Calcireticulin and calnexin are what?
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
Zinc finger motif
DNA binding proteins
- The onset of preeclampsia before the 20th gestational week is suggestive of what?
hydatiform mole
All topoisomerases do what?
-All topoisomerases can relax DNA to remove supercoils
DNA gyrase is the only topoisomerase that does what?
introduce negative supercoils into the DNA (to stabilize an underwound DNA helix)
HNPCC is associated with what defect
defect in mismatch repair