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Biochemistry

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1. What does an umabiguous genetic code refer to...
Glycogen synthase
Breaks down acyl - coa to acetyl coa groups in mito
Each codon specifies only 1 amino acid
MRNA - tRNA

2. How is vit D stored
Marfans
Fed
25OHD3
SnRNPs and other proteins

3. What is the composition of urea and where do each part derive from
Citrate - acetyl coa from mito to cyto
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Conversion of NE to epi
Rotenone - CN- - antimycin A - CO

4. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Locus heterogeneity - ocular albinism is x- linked recessive
Cleft palate - cardiac abnl - pregs test
Type II
Carnitine acyltransferase I

5. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
32 - malate aspartate shuttle
Microtubules
Mebendazole/thiabendazole
CG- 3 > AT-2 - More CG content - melting point goes up

6. Why can't even chain fatty acids produce new glucose
Exercise: inc NAD/NADH - inc ADP - inc Ca
Assistance of upper extremities to stand up
They yield only acetyl - CoA equivalents
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

7. What does vit E def cause
Phenylethamolamine N methyl transferase
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
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

8. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Makes RNA primer on which DNA poly III can initiate replication
Phosphofructokinase 1

9. central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
CFTR gene - 7 - Phe 508
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
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

10. What enzyme turns ROS to H2O2
Glycine - aspartate - glutamine
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Superoxide dismutase
Oxalacetate

11. What does a western blot use for its sample
LCAT (lecithin cholesterol acyltransferase)
Protein
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Activates LCAT

12. What two cells are particularly rich in RER
Reads usual codon but inserts wrong AA
Acetyl - CoA carboxylase (ACC)
Locus heterogeneity - ocular albinism is x- linked recessive
Mucus secreting globlet cells and antibody secreting plasma cells

13. What makes up a nucleotide

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14. What does DNA ligase do
Initiate chains
Change resulting in early stop codon
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Seals.

15. How do microtubules grow and collapse
RER
CarTWOlage
Grows slowly - collapses quickly
Tryptophan

16. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Proline and lysine - vit C
Unwinds DNA template at replcation fork
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Cre - lox system

17. How does ethanol induce hypoglycemia
Microarrays
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
Schilling test
Liver hepatocytes and steroid producing cells of the adrenal cortex

18. What CETP do
Cyclin dependent kinases;constitutive and inactive
Sucrose = glucose + fructose - lactose = glucose + galactose
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Cleft palate - cardiac abnl - pregs test

19. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
SnRNPs and other proteins
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
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
Oral uridine administration

20. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Fed
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Nonsense > missense > silent
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

21. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Infection - free radicals generated by inflammatory response
Changed AA (convservative - new AA is similar in chemical structure)
Arg - lys - his - arg is most basic - has has no charge at body pH
Actin and myosin

22. What apolipoprotein is on LDL
B100
Inhibits 50S peptidyltransferase
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Kwashiorkor - small child with swollen belly

23. How do odd chain fatty acids participate in gluconeogenesis
Inc CPK and muscle biopsy
Oxidized hemoglobin precipiated within RBCs
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
O- oligosaccharaides

24. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Oxidized hemoglobin precipiated within RBCs
Conversion of NE to epi
Proline and lysine - vit C

25. What two proteins make up microtubules and how are they arranged
Histidine
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Alpha and beta tubulin - dimers have two GTP bound
Zero

26. What is axonemal dynein
Intermediate filaments
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
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
L form

27. In what direction are DNA and RNA synthesized

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28. What shuttle is used in fatty acid degredation and What does it move and From where to where
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Adds an inorganic phosphate onto substrate without using ATP
Carnitine shuttle - acyl - coa from cyto to mito
CarTWOlage

29. Which direction does kinesin go
Protein kinase A
Neg to pos
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR

30. What rxn does propionyl - CoA carboxylase catalyze
Malonyl coa
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
9+2 arrangement of microtubules
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

31. How do stable (quiescent) cells grow and regenerate and What are examples
Neural tube
By inhibiting formation of the initiation complex and cause misreading of mRNA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

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

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33. What is the RDE of glycogenolysis
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Glycogen phosphorylase
Actin and myosin
Mcardle's - skeletal muscle glycogen posphorylase

34. Why can't muscle produce in gluconeogenesis
Lacks glucose 6 phophatase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Inc Cl - in sweat
ATP - citrate

35. Where is fructose 1 -6 bisphosphatase found and What does it do
Change resulting in early stop codon
Oligomycin
Cytosol - F 1 -6 BP to fructose 6 Phosphate
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

36. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
DTMP
ADPKD
ATP - citrate

37. How do macrolides and clindamycin work
Binds 50S - blocking translocation
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Change resulting in early stop codon

38. 90% of ADPKD cases are due to a mutation In what gene
APKD1 on chromosome 16
Deamination
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

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

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40. What happens in a B12 def
Thymic - parathyroid and cardiac
CarTWOlage
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Cartilage - hyaline - vitreous body - nucleus pulposus

41. Where is vit B12 found
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Von Gierke's - Pompe - Cori - McArdle
LDL
Malonyl coa

42. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Marfans
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Elastase - inhibited by alpha1 antitrypsin

43. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Inc glucagon - inc cAMP - inc PKA
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Stop codon is recognized by release factor - and completed protein is released from ribosome
Vit K antagonist

44. How is Lesch Neyhan inherited
X- linked recessive
Glycogenolysis to form glucose
Mcardle's - skeletal muscle glycogen posphorylase
Alpha 1 -4 glucosidase

45. What is a silent mutation
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Carbomoyl phosphate synthetase I
Same AA - often base change in 3rd position of codon (tRNA wobble)
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

46. What two enzymes are involved in EtOH metabolism
Poly A polymerase - signal is AAUAA
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
EtOH dehydrogenase and acetaldehyde dehydrogenase

47. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
HMG- CoA synthase
Fasting
Rb and p53
HMG- CoA reductase

48. What metabolic rxns occur in the mitochondria
Proline and lysine - vit C
Fructose 1 -6 bisphosphate
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

49. What happens in vit B2 def
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Deamination
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
X- linked recessive

50. What is maternal PKU
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Kwashiorkor - small child with swollen belly
RRNA

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Biochemistry

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