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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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1. What does apoA 1 do
NF2 on chromosome 22
Activates LCAT
Comlex II
40 - 60 - 80

2. Milder form of type I with nl blood lactate levels - dz and enzyme

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3. Where is PEP carboxykinase found - What does it do - and What does it require
Flagella - cilia - mitotic spindles
Carnitine shuttle - acyl - coa from cyto to mito
Phenytoin - MTX - and sulfonamides
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

4. What is the activated carrier for electrons
EtOH dehydrogenase and acetaldehyde dehydrogenase
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
NADH - NADPH - FADH2
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

5. what disease can cause pellagra
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Alpha and beta tubulin - dimers have two GTP bound
ATP hyrdolysis couple to energetically unfavorable rxns

6. What is NADPH used for
Anabolic processes as a supply of reducing equivalents
P+q = 1
HGPRT - defective purine salvage - excess uric acid production
African Americans and Asians

7. What happens in vit D excess
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
X- linked recessive
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
HVA

8. In what cells do the respiratory burst occur
EtOH dehydrogenase and acetaldehyde dehydrogenase
TRNA
PMNs
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

9. What is a missense mutation
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Changed AA (convservative - new AA is similar in chemical structure)
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Pseudomonas and s aureus

10. What happens in elongation of protein synthesis

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11. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Arginine
Proton gradient
Colchicine

12. In which state is PFK-2 active
Fed
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Glucose 6 phosphate dehydrogenase (G6PD)

13. What does the TCA cycle produce per 1 acetyl CoA
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
VMA
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
CTG

14. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Marfans
Same as sprint + OXPHOS
Inc glucagon - inc cAMP - inc PKA
Inc insulin - dec cAMP - dec PKA

15. What does a kinase do
Methionine encode by only 1 codon (AUG)
1 -25 OH2 D3 = calcitriol
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Uses ATP to add high energy phophate group onto substrate

16. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
ADPKD
HGPRT - defective purine salvage - excess uric acid production
Euchromatin
Phenylethamolamine N methyl transferase

17. What is the TX for pyruvate dehydrogenase deficiency
Degradation of TG remaining in IDL
P+q = 1
Not all individuals with a mutant genotype show the mutant phenotype
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

18. What are the reactants for glycolysis
Eu - methionine - pro - formyl - methionine
Glucose - 2Pi - 2ADP - 2NAD+
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

19. I g fat = ? Kcal
Neurofibromatosis type 1 (von Recklinghausens disease)
Makes RNA primer on which DNA poly III can initiate replication
Nine
3' end (with CCA)

20. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected

21. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
Attachment of ubiquitin to defective proteins tag them for breakdown
Disorder of aromatic amino acid metabolism
HDL
ATP and alanine

22. What 3 syndromes are associated with vit B1 def
Degredation of TG circulating in chylomicrons and VLDLs
Wernicke - korsakoff - dry and wet beriberi
Oligomycin
Procollagen - triple helix of 3 alpha collagen chains

23. What 3 amino acids are necessary for purine synthesis
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Microarrays
Glycine - aspartate - glutamine
Cytosol - F 1 -6 BP to fructose 6 Phosphate

24. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Citrate - acetyl coa from mito to cyto
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
Mcardle's - skeletal muscle glycogen posphorylase
LCAT (lecithin cholesterol acyltransferase)

25. What ribosomes do prokaryotes have
30 - 50 - 70
Fibrofatty replacement of muscle - cardiac myopathy
Inc insulin - dec cAMP - dec PKA
Same as sprint + OXPHOS

26. What is locus heterogeneity and give an example
SNP
DTMP
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

27. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
PCR - denaturation - annealing - elongation
30 - 50 - 70
Pyruvate - NAD+ - CoA
UGA - UAA and UAG

28. What rxn does propionyl - CoA carboxylase catalyze
Inhibits the Na/K pump by binding the K side
Tuberous sclerosis
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Fed

29. What apolipoprotiens are on VLDL
25OHD3
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
B-100 - CII and E
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

30. What are the glucogenic essential amino acids
Met - val - arg his
Glycogenolysis to form glucose
Microtubules
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

31. What does the deletion of the dystrophin gene lead to...
Creat a nick in the helix to relieave supercoils created during replication
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Accelearted muscle breakdown
Dopa decarboxylase

32. Giving folate during early pregnancy is important to prevent what birth defects
Carbomoyl phosphate synthetase II
Neural tube
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
CAG

33. Acetyl - CoA carboxylase catalyzes what rxn
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Comlex II
Acetyl - CoA to malonyl - CoA (2C to 3C)
One

34. 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
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

35. What is the most common urea cycle disorder and What is the mode of inheritance?
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Specific glycosylases - AP endonuclease
ATP and methionine
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

36. What does apoCII do
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Neither of 2 alleles is dominant - blood groups
Cofactor for LPL
VMA

37. What are the results of pancreatic insuff in CF
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
Cleft palate - cardiac abnl - pregs test
II - VII - IX - X (1972) protein C and S
Malabsorption and steatorrhea (ADEK)

38. Which are the basic amino acids
Krabbes - galactocerebrosidase - galactocerebroside - AR
Arg - lys - his - arg is most basic - has has no charge at body pH
Transfers methyl units
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

39. What occurs to oxaloacetate in starvation and DKA
Adenosine to inosine
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
SAM

40. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Alpha - ketoglutarate dehydrogenase complex
Inc vit B6
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

41. What is the result of vit B5 def
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Proline and lysine - vit C
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
By inhibiting formation of the initiation complex and cause misreading of mRNA

42. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
X linked frame shif mutation
Alpha 1 -4 glucosidase

43. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Mcardle's - skeletal muscle glycogen posphorylase
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
2 rings

44. How does insulin inhibit glycogenolysis
Degredation of TG circulating in chylomicrons and VLDLs
Accelearted muscle breakdown
II - VII - IX - X (1972) protein C and S
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

45. How do glucagon/epi lead to glycogenolysis
Makes RNA primer on which DNA poly III can initiate replication
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Tryosine hydroxylase

46. What metabolic rxns occur in the mitochondria
Malabsorption and steatorrhea (ADEK)
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Inhibit DNA gyrase specific for prokaryotic topoisomerase

47. pyruvate carboxylase catalyzes what rxn
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Activates LCAT
Pyruvate to oxaloacetate (3C to 4C)
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

48. What does a western blot use for its sample
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
After day 1
Oxidized hemoglobin precipiated within RBCs
Protein

49. What happens in a B12 def
Inc dicarboxylic acids - dec in glucose and ketones
AR
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Blood - bone marrown - amniotic fluid - placental tissue

50. Which RNA poly opens DNA at promotor site
Pyruvate to oxaloacetate (3C to 4C)
RNA poly II
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine