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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. Where is acetaldehyde located
Wernicke - korsakoff - dry and wet beriberi
Connective tissue
Mitochondria
Oxalacetate

2. What rxn creates ATP
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Glucose -6 phosphate
Disease
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

3. bilateral acoustic schwannomas - juvenile cataracts
Liver and leafy veggies
Cleft palate - cardiac abnl - pregs test
NF2 on chromosome 22
Proline and lysine - vit C

4. What catacholamine step is SAM required for
Flagella - cilia - mitotic spindles
Conversion of NE to epi
40 - 60 - 80
32 - malate aspartate shuttle

5. What does apoCII do
Cofactor for LPL
P2 +2pq+ = 1
Collagen
Malabsorption and steatorrhea (ADEK)

6. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
CarTWOlage
PCR - denaturation - annealing - elongation
Kwashiorkor - small child with swollen belly
Mucus secreting globlet cells and antibody secreting plasma cells

7. Which direction does kinesin go
Neg to pos
Essential fructosuria - fructokinase AR
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Methionine encode by only 1 codon (AUG)

8. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Mediates chylomicron secretion
Phosphorylation - glycosylation - hydroxylation
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Dopamine beta hydroxylase

9. What does an umabiguous genetic code refer to...
Each codon specifies only 1 amino acid
Nine
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies

10. What inhibits pyruvate kinase
ATP and alanine
Inhibits 50S peptidyltransferase
LDL
Antioxidant - protects RBCs and membrances from free radical damage

11. What is the physiologic role of dystrophin
Must be both activated and inactivated for cell cycle to progress
RNA
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Night blindness - dry skin

12. What causes Edwards syndrome and What is it
Tropoelastin with fibrillin scafolding
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Dermatitis - alopecia - enteritis
Protective against malaria

13. In which structures do you find microtubules
Removes phosphate group from substrate
Flagella - cilia - mitotic spindles
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

14. What is the breakdown product of epi
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Glycogen and FFA oxidation; glucose conserved for final sprinting
Oxalacetate
Metanephrine

15. Type II collagen
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Glycolysis and aerobic respiration
Disorder of aromatic amino acid metabolism
Cartilage - hyaline - vitreous body - nucleus pulposus

16. What metabolic rxns occur in the cytoplasm
CGG
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Arg - lys - his - arg is most basic - has has no charge at body pH
Cartilage - hyaline - vitreous body - nucleus pulposus

17. What enzyme turns ROS to H2O2
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Superoxide dismutase
Asp and Glu
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

18. What is locus heterogeneity and give an example
Wrinkles and acne
HMG- CoA reductase
Proline and lysine - vit C
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

19. Where is PEP carboxykinase found - What does it do - and What does it require
Acetyl - CoA carboxylase (ACC)
Type II
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Glutamate

20. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Methionine encode by only 1 codon (AUG)
Locus heterogeneity - ocular albinism is x- linked recessive
CFTR gene - 7 - Phe 508
Alpha 1 -6 and alpha 1 -4

21. How do fluoroquinolones work
Neural tube
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Cyclin dependent kinases;constitutive and inactive
Disorder of aromatic amino acid metabolism

22. Where do you find elastin and What does it do
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Glycine
No
5' of the incoming nucleotide

23. How does abetalipoproteinemia present and What is the defect
Stored ATP - creatine phosphate - anaerobic glycolysis
Oligomycin
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

24. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Glycogenolysis to form glucose
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Alpha1 antitrypsin

25. What is a missense mutation
Changed AA (convservative - new AA is similar in chemical structure)
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
2 rings

26. What does a decrease in decrease in NADPH lead to and why
Mitochondria
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
1 -25 OH2 D3 = calcitriol
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

27. Is there any requirement for homology in NHEJ
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
No - its non homologous
Each codon specifies only 1 amino acid
B-100 - CII and E

28. What converts DOPA to dopamine
Niacin - constituent of NAD and NADP - derived from tryptophan
Mediates chylomicron secretion
Dopa decarboxylase
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

29. What causes B12 def
Protective against malaria
HDL
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Alpha - ketoglutarate dehydrogenase complex

30. What does DNA poly I do?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

31. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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32. Giving folate during early pregnancy is important to prevent what birth defects
X linked frame shif mutation
Binds 50S - blocking translocation
Neural tube
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

33. In what cell is collagen synthesis initiated
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Fibroblast
Phosphorylation - glycosylation - hydroxylation
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

34. Which antifungal drugs work on microtubules
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Griseofulvin
Intermediate filaments
1 ring

35. What is the function of folic acid
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Tyrosine
Ile - phe - thr - trp
SnRNPs

36. What does a western blot use for its sample
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
3' end (with CCA)
ATP and alanine
Protein

37. What are the names and sources of the two types of vit D found in nature
Wobble
Marfans
High output cardiac failure - dilated cardiomyopathy - edema
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

38. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers
Intermediate filaments
HDL
Oxidative is irreversible

39. What is the defect in I- hyperchylomicronemia
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
SNP
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

40. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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41. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Terminal regions - tropocollagen
Neg to pos
X linked frame shif mutation
Proline and lysine - vit C

42. Why can't even chain fatty acids produce new glucose
They yield only acetyl - CoA equivalents
Oxidative is irreversible
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

43. What apolipoproteins are on chylomicrons
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
B48 - AIV - CII - E
Oxidized hemoglobin precipiated within RBCs
Oral uridine administration

44. What is the rate limiting enzyme in cholesterol synthesis
Myeloperoxidase
HMG- CoA (HMG- CoA to mevalonate
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Vincritsine/vinblastine

45. What is the defect in cystinuria
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Inc vit B6

46. What is the TX for hyper ammonemia
Acetyl - CoA to malonyl - CoA (2C to 3C)
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Accelearted muscle breakdown

47. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
1 ring
UGA - UAA and UAG
Dermatitis - enteritis - alopecia - adrenal insuff
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway

48. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Carbomoyl phosphate synthetase I
32 - malate aspartate shuttle
High output cardiac failure - dilated cardiomyopathy - edema

49. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
3' end (with CCA)
HDL
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

50. In which direction is protein synthesized
N to C
Flagella - cilia - mitotic spindles
3' end (with CCA)
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra