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Biochemistry

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Answer 50 questions in 15 minutes.
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1. What does vit E def cause
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
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
Karyotyping

2. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Inc melt - dec fluidity
Orotic acid to UMP

3. What is the breakdown product of NE
VMA
Sucrose = glucose + fructose - lactose = glucose + galactose
Abnormal protein folding - degradation before reaching cell surface
Unmethylated - newly synthesized - HNPCC

4. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

5. Which direction does dynein go
Post to neg
III - joint dislocation - anuerysms - organ rupture
Thymic - parathyroid and cardiac
By inhibiting formation of the initiation complex and cause misreading of mRNA

6. What are the reactants for glycolysis
Removal of N or C termal propeptides from zymogens to generate mature proteins
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Glucose - 2Pi - 2ADP - 2NAD+
IMP precursor

7. This is the site where negative regulators bind
Silencers
VMA
Muscle
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

8. Where do you find elastin and What does it do
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
2 -4 DNP - aspirin
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Sulfation

9. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Inc insulin - dec cAMP - dec PKA
Nissl body - enzyme and NTs
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

10. Which anti gout drugs work on microtubules
Colchicine
Read from a fixed starting point as a continuous sequence of bases
Tryosine hydroxylase
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

11. What enzyme does fructose metabolism bypass to reach glycolysis
APC on chromosome 5
9+2 arrangement of microtubules
PFK - rate limiting enzyme
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

12. RNA poly can't proofread - but What can it do
Dermatitis - alopecia - enteritis
Scrutinizes - hydrolyzes the bond
Glycogen phosphorylase
Initiate chains

13. What causes Marfan syndrome
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Initiate chains
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Defect in fibrillin

14. What happens in carnitine def
Binds 50S - blocking translocation
Cofactor for LPL
GAA
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

15. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
B100
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Oligomycin
Locus heterogeneity - ocular albinism is x- linked recessive

16. Name 5 drugs that interfere with nucleotide synthesis
Night blindness - dry skin
Hereditary spherocytosis
Heterochromatin = HighlyCondensed
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

17. What shuttle is used in fatty acid degredation and What does it move and From where to where
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Carnitine shuttle - acyl - coa from cyto to mito

18. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Proline and lysine - vit C
Neg to pos
Skin
Core proteins

19. What creates the musty body odor in PKU
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Inc Cl - in sweat
Disorder of aromatic amino acid metabolism
Neurofibromatosis type 1 (von Recklinghausens disease)

20. bilateral - massive enlargement of of kidneys due to multiple large cysts
Nissl body - enzyme and NTs
African Americans and Asians
ADPKD
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

21. What are the glucogenic essential amino acids
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Met - val - arg his
Biotin
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

22. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Oxalacetate
Glutamate
17 - 17 letters in von Recklinghausen
B-100 - CII and E

23. What is the defect in II A familial hypercholesterolemia
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Hypoglycemia
Tryosine hydroxylase
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

24. What does PURe As Gold and CUT The Py stand for
Purines= A - G pyrimidine = C - T (U)
2 rings
Grows slowly - collapses quickly
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

25. Which end of the tRNA is the amino acid bound to...

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26. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Stored ATP - creatine phosphate - anaerobic glycolysis
Fibrofatty replacement of muscle - cardiac myopathy
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Alpha1 antitrypsin

27. How many ATP are produced by anearobic glycolysis per molecule of glucose
Mutated dystrophin gene - less severe - adolescence
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
Modifies N- oligosaccharides
Two

28. What is Retin A used topically for
Wrinkles and acne
Terminal regions - tropocollagen
Q -
Citrate - acetyl coa from mito to cyto

29. What is the RDE of fatty acid oxidation
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Carnitine acyltransferase I
Inc CPK and muscle biopsy
Inc glucagon - inc cAMP - inc PKA

30. caf
Fed
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Neurofibromatosis type 1 (von Recklinghausens disease)
Williams syndrome

31. What are the fetal screening measures for Down
Changed AA (convservative - new AA is similar in chemical structure)
Essential fructosuria - fructokinase AR
Acetyl - CoA
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

32. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Antioxidant - protects RBCs and membrances from free radical damage
Marasmus - muscle wasting
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR

33. What is the function of Zinc
APKD1 on chromosome 16
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

34. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Creat a nick in the helix to relieave supercoils created during replication
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
2 rings
Inc melt - dec fluidity

35. What does the CFTR channel do in the lungs - GI tract and skin
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Procollagen - triple helix of 3 alpha collagen chains
Active secretion in lungs and GI - reabsorbs in skin
L form

36. Pts with albinism are at inc risk For what cancer
Skin
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
ATP and alanine
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

37. What does hormone sensitive lipase do
Degradation of TG stored in adipocytes
CAG - 4
Disorder of aromatic amino acid metabolism
Liver hepatocytes and steroid producing cells of the adrenal cortex

38. What is the RDE of ketogenesis
Each codon specifies only 1 amino acid
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
HMG- CoA synthase
Protective against malaria

39. cardiomegaly - systemic findings leading to early death - dz and enzyme

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40. 1 g of protein or cabrohydrate = ?kcal
Terminal regions - tropocollagen
Removes phosphate group from substrate
Four
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

41. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Fasting
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
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
30 - glycerol -3- phosphate shuttle

42. What does NADPH oxidase deficiency result in and why
Same as sprint + OXPHOS
After day 1
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

43. What else can phosphoylate phosphorylase kinase
Collagen
NADH - NADPH - FADH2
Ca/calmodulin in muscle to coordinate with muscle activity
DNA

44. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Semiconservative - continuous and discontinuous strands (okazaki fragments)
SnRNPs and other proteins
Inc insulin - dec cAMP - dec PKA
ATP - citrate

45. What rxn creates ATP
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Hypoglycemia
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
Glucose 6 phosphatase

46. What step begins the urea cycle and What is the enzyme needed - Where does it happen
FISH
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Breaks down acyl - coa to acetyl coa groups in mito
ATP hyrdolysis couple to energetically unfavorable rxns

47. Synthesis of vit B3 requires what other vitamin
Lacks glucose 6 phophatase
B6
Williams syndrome
ADPKD

48. How does ethanol induce hypoglycemia
B100 and E
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
X linked frame shif mutation
Superoxide dismutase

49. What does amino acid catabolsim results in the formation of what?
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Phenylethamolamine N methyl transferase
Acetoacetate and beta hydroxybutyrate
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

50. What is the limiting reagent in EtOH metabolism
Attachment of ubiquitin to defective proteins tag them for breakdown
Disorder of aromatic amino acid metabolism
NAD+
In ER - glucose 6- P to glucose

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Biochemistry

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