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Biochemistry

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1. What 3 steps in RNA processing occur after transcription

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2. What substance in egg whites binds biotin
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Avidin
Ribos first then deoxyribos with ribonucleotide reductase
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

3. How many rings do purines have
2 rings
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
1 -25 OH2 D3 = calcitriol
Basement membrane or basal lamina

4. What is the amino acid precursor for porphyrin and heme
Infection - free radicals generated by inflammatory response
Glycine
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Promotor - TATA box - and CAAT box - AT rich

5. What collagen type is most frequently affected in ehlers danlos and What are common complications
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Nine
III - joint dislocation - anuerysms - organ rupture
Inc CPK and muscle biopsy

6. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
The triphosphate bond
Glycogen synthase
Peroxide
Hereditary spherocytosis

7. Synthesis of vit B3 requires what other vitamin
2 rings
Same AA - often base change in 3rd position of codon (tRNA wobble)
Inc CPK and muscle biopsy
B6

8. What are the blood glucose levels maintained by for days 1-3
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)
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Antioxidant - protects RBCs and membrances from free radical damage
Alpha and beta tubulin - dimers have two GTP bound

9. What is incomplete penetrence and give an example
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Dec DNA - dec lymphos leads to SCID
Not all individuals with a mutant genotype show the mutant phenotype
Disorder of aromatic amino acid metabolism

10. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
CG- 3 > AT-2 - More CG content - melting point goes up
Modifies N- oligosaccharides

11. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
DTMP
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
HVA
Must be both activated and inactivated for cell cycle to progress

12. What happens in the first stage of collagen synthesis - and Where does it happen
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Sulfation
Fibroblast
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

13. What is the active form of vit D
1 -25 OH2 D3 = calcitriol
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
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

14. Which anti gout drugs work on microtubules
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Colchicine
CFTR gene - 7 - Phe 508

15. What happens in carnitine def
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Antibiotic use or excessive ingestion of raw eggs

16. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
X linked frame shif mutation
HMP shunt

17. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Mcardle's - skeletal muscle glycogen posphorylase
Ribos first then deoxyribos with ribonucleotide reductase
75 to 90 - cloverleaf

18. What happens on the oxidative arm of the HMP shunt and What is the key enzyme
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
DsRNA promotes degradation of target mRNA knocking down gene expression
2pq
Alpha1 antitrypsin

19. What is the energy source after day 3 of starvation
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Anabolic processes as a supply of reducing equivalents
Night blindness - dry skin
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

20. What else can phosphoylate phosphorylase kinase
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Base + ribose
Ca/calmodulin in muscle to coordinate with muscle activity

21. What is the defect in cystinuria
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Cytosol
Only processed RNA
Degredation of TG circulating in chylomicrons and VLDLs

22. Where are cytosolic and organellar proteins made
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
APC on chromosome 5
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Free ribosomes

23. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Phenylalanine hydroxylase
Actin and myosin
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

24. What are the names and sources of the two types of vit D found in nature
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
APKD1 on chromosome 16
Rotenone - CN- - antimycin A - CO
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

25. What liberates glucose from glucose 6 P
Glucose 6 phosphatase
Essential fructosuria - fructokinase AR
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Phosphorylation - glycosylation - hydroxylation

26. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Huntingtons
HMG- CoA reductase
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Von Gierke's - Pompe - Cori - McArdle

27. What does lipoprotein lipase do
Degredation of TG circulating in chylomicrons and VLDLs
HMG- CoA (HMG- CoA to mevalonate
1 kind with multiple subunits
Oxalacetate

28. What is the breakdown product of NE
Inc melt - dec fluidity
Covalent cross - linking by lysyl oxidase to make collagen fibrils
40 - 60 - 80
VMA

29. What is the activated carrier for electrons
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
NADH - NADPH - FADH2
Autosomal recessive diseases
High output cardiac failure - dilated cardiomyopathy - edema

30. How many rings do pyrimidines have
Free ribosomes
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
1 ring
Diphyllobothrium latum

31. What are the reactants for glycolysis
Oligomycin
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Glucose - 2Pi - 2ADP - 2NAD+
Oxalacetate

32. What does the TCA cycle produce per 1 acetyl CoA
Breaks down acyl - coa to acetyl coa groups in mito
PFK - rate limiting enzyme
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Tyrosine

33. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Disorder of aromatic amino acid metabolism
L form
Dopamine beta hydroxylase
Specific glycosylases - AP endonuclease

34. What does a phosphorylase do
Adenosine to inosine
ATP
Adds an inorganic phosphate onto substrate without using ATP
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

35. Where is hexokinase found - What is its Km and Vmax and what uninduces it
NF2 on chromosome 22
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Citrate - acetyl coa from mito to cyto
B12 and folate

36. What happens in a B12 def
They yield only acetyl - CoA equivalents
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Acetyl - CoA to malonyl - CoA (2C to 3C)
LDL

37. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Glycolysis and aerobic respiration
OTC has hyperammonemia - orotic aciduira does not
Alpha - ketoglutarate dehydrogenase complex

38. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Proline and lysine - vit C
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Oxidative is irreversible
Acetoacetate and beta hydroxybutyrate

39. What enzyme results in classic galactosemia and What is the clinical
Blood - bone marrown - amniotic fluid - placental tissue
BOne
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Mucus secreting globlet cells and antibody secreting plasma cells

40. What does the mutation in the gene cause in protein synthesis
Abnormal protein folding - degradation before reaching cell surface
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Inhibits the Na/K pump by binding the K side
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

41. What happens with wet beriberi
High output cardiac failure - dilated cardiomyopathy - edema
Met - val - arg his
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Lacks glucose 6 phophatase

42. What does a decrease in decrease in NADPH lead to and why
PMNs
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Deamination
Lacks glucose 6 phophatase

43. How does chloramphenicol work
Mcardle's - skeletal muscle glycogen posphorylase
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Inhibits 50S peptidyltransferase
HGPRT - defective purine salvage - excess uric acid production

44. What is the energy source for translocation
GTP
PFK - rate limiting enzyme
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Alpha and beta tubulin - dimers have two GTP bound

45. How does ouabain work
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
L form
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
Inhibits the Na/K pump by binding the K side

46. What does pancreatic lipase do
Makes RNA primer on which DNA poly III can initiate replication
Degredation of dietary TG in small intestine
Disorder of aromatic amino acid metabolism
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

47. What does a phosphatase do
Removes phosphate group from substrate
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Krabbes - galactocerebrosidase - galactocerebroside - AR
Promotor - TATA box - and CAAT box - AT rich

48. what findings are associated with marfans
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
CG- 3 > AT-2 - More CG content - melting point goes up
Malapsorption syndromes like sprue or CF or mineral oil intake
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

49. What are the physical findings of fragile x syndrome
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Colchicine

50. What catacholamine step is SAM required for
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Conversion of NE to epi
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

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Biochemistry

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