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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. What happens in vit B2 def
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Purines= A - G pyrimidine = C - T (U)
Inc insulin - dec cAMP - dec PKA
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

2. What is the activated carrier for Co2
Biotin
Inc vit B6
Fructose 1 -6 bisphosphate
Hypoglycemia

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

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4. What are the blood glucose levels maintained by for days 1-3
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Free ribosomes
Phenylalanine hydroxylase
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)

5. What does a defective Cl channel do
2 rings
Proline and lysine - vit C
SnRNPs and other proteins
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

6. Which are the acidic amino acids
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
17 - 17 letters in von Recklinghausen
Asp and Glu

7. What test is used for B12 def
Dermatitis - glossitis - and diarrhea
Schilling test
Von hippel lindau - 3
Glycine - aspartate - glutamine

8. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Fibroblast
Ribos first then deoxyribos with ribonucleotide reductase
Same as sprint + OXPHOS

9. What regulates whether FBPase -2 or PFK-2 is active
Protein kinase A
Catabolic processes to carry reducing equivalents away as NADH
CAG - 4
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

10. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Histidine
ATP and alanine
Oral uridine administration
Acetyl - CoA

11. Infection with what organism can cause B12 def
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Diphyllobothrium latum
Orotate precursor - with PRPP added later
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

12. Why is albinism inheritnace varialbe due to...
Alpha 1 -4 glucosidase
PMNs
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Locus heterogeneity - ocular albinism is x- linked recessive

13. central and peripheral demyelination with ataxia and dementia
Pyruvate - NAD+ - CoA
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Zero

14. What is disulfiram used for
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Pseudomonas and s aureus
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

15. What is the purpose of the HMP shunt
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Paclitaxel
L form
CFTR gene - 7 - Phe 508

16. How do stable (quiescent) cells grow and regenerate and What are examples
ATP hyrdolysis couple to energetically unfavorable rxns
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Targets the proteins for lysosome
Dermatitis - glossitis - and diarrhea

17. What happens in the first stage of collagen synthesis - and Where does it happen
30 - glycerol -3- phosphate shuttle
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Robertsonian translocation and mosaicism
Glucose 6 phosphatase

18. A small proportion of Down syndrome is due to What two genetic events
LDL
Must be both activated and inactivated for cell cycle to progress
Robertsonian translocation and mosaicism
Inhibit DNA gyrase specific for prokaryotic topoisomerase

19. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Acetyl - CoA carboxylase (ACC)
Glycogen synthase
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

20. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Rotenone - CN- - antimycin A - CO
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Tuberous sclerosis
FISH

21. Where is fructose 1 -6 bisphosphatase found and What does it do
Night blindness - dry skin
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Change resulting in early stop codon

22. What does pancreatic lipase do
Enhancers
Degredation of dietary TG in small intestine
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

23. What is the result of vit B5 def
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Ribos first then deoxyribos with ribonucleotide reductase

24. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Citrate - acetyl coa from mito to cyto
Same as sprint + OXPHOS
Chylomicrons

25. What is NADPH's role inside RBCs
Keep glutathione reduced so it can detoxify free radicals and peroxides
Sulfation
BOne
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -

26. Where is vit A found in the diet
Liver and leafy veggies
Schilling test
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Mucus secreting globlet cells and antibody secreting plasma cells

27. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Oxalacetate
Rotenone - CN- - antimycin A - CO
Degredation of TG circulating in chylomicrons and VLDLs

28. Which antifungal drugs work on microtubules
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Griseofulvin
OTC has hyperammonemia - orotic aciduira does not

29. Which direction does dynein go
Post to neg
Alcohol version of glucose - can trap glucose in cell - aldose reductase
FMR1 gene - methylation - associated with chromosomal breakage
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

30. How does ethanol induce hypoglycemia
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
Each codon specifies only 1 amino acid
Pyruvate to oxaloacetate (3C to 4C)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

31. What substance inside the cell reduces glutatione
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
NADPH
B48 - AIV - CII - E

32. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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33. What is the TX for PKU
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
RNA
Phosphorylation - glycosylation - hydroxylation

34. What does a phosphorylase do
Alkaptonuria - may have debiliating arthralgias
Krabbes - galactocerebrosidase - galactocerebroside - AR
Adds an inorganic phosphate onto substrate without using ATP
Microtubules

35. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Ribose 5- P to PRPP
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Achondroplasia

36. How do microtubules grow and collapse
Binds 50S - blocking translocation
5' of the incoming nucleotide
Grows slowly - collapses quickly
Lacks glucose 6 phophatase

37. What does the golgi apparatus do on asparagine
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Modifies N- oligosaccharides
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Free ribosomes

38. Where are cytosolic and organellar proteins made
30 - glycerol -3- phosphate shuttle
Epithelial cells
Free ribosomes
Carnitine shuttle - acyl - coa from cyto to mito

39. What is the composition of urea and where do each part derive from
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
After day 1
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Y shaped region along the DNA template where leading nad lagging strands are synthesized

40. What apolipoprotiens are on VLDL
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
VLDL
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
B-100 - CII and E

41. What does helicase do
Conversion of NE to epi
Muscle
Fibrofatty replacement of muscle - cardiac myopathy
Unwinds DNA template at replcation fork

42. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Proton gradient
Nonsense > missense > silent
RER
Biotin

43. What substances are uncouling agents
Oxidized hemoglobin precipiated within RBCs
2 -4 DNP - aspirin
HMG- CoA (HMG- CoA to mevalonate
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

44. What happens in folate def
Colchicine
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
DTMP

45. What makes up a nucleotide

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46. What is locus heterogeneity and give an example
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Arginine
Inhibits RNA polymerase II - found in death cap mushrooms
9+2 arrangement of microtubules

47. What is the RDE of de novo pyrimidine synthesis
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Carbomoyl phosphate synthetase II
CarTWOlage
Liver - ovaries - seminal vesicles

48. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Alanine
Purines= A - G pyrimidine = C - T (U)
Neurofibromatosis type 1 (von Recklinghausens disease)
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

49. Where is glucose 6 phosphatase found and What does it do
Diphyllobothrium latum
Hyperlipidemia
In ER - glucose 6- P to glucose
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

50. Which direction does kinesin go
Neg to pos
Inhibits 50S peptidyltransferase
Karyotyping
Two