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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 does apoA 1 do
Cytosol
Makes RNA primer on which DNA poly III can initiate replication
Activates LCAT
2 -4 DNP - aspirin

2. What is trimming
30 - 50 - 70
Intermediate filaments
Removal of N or C termal propeptides from zymogens to generate mature proteins
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

3. protein malnutrition resulting in skin lesions - edema and liver malfxn
N to C
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
RER
Kwashiorkor - small child with swollen belly

4. What are the purely ketogenic amino acids
Connective tissue
TRNA
Leu - lys
Dec DNA - dec lymphos leads to SCID

5. What is the RER called in neurons and What is made there
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Nissl body - enzyme and NTs
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Krabbes - galactocerebrosidase - galactocerebroside - AR

6. What do the single stranded binding proteins do
Prevent strands from reannealing
Result from phagocytic removal of heinz bodies my macs - G6PD def
Phenylketones in urine
Fructose 1 -6 bisphosphate

7. How many ATP are produced by anearobic glycolysis per molecule of glucose
Two
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Peroxide
Adenosine to inosine

8. What 3 steps in RNA processing occur after transcription

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9. How does warfarin work
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Blood - bone marrown - amniotic fluid - placental tissue
Vit K antagonist
SAM

10. Which direction does kinesin go
Neg to pos
Failure to track objects or develop a social smile
Alanine
CarTWOlage

11. What part of the pre mRNA contains the actual genetic information coding for protein
Exons
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
CGG
Q -

12. What does a carboxylase do
2 -4 DNP - aspirin
Adds 2 carbon with the help of biotin
OTC has hyperammonemia - orotic aciduira does not
PFK - rate limiting enzyme

13. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Oxalacetate
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Oxidative is irreversible
PFK - rate limiting enzyme

14. What bone disorder has x linked dominant inheritance
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Neuralgia
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

15. What chromosome is the NF gene on...
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
17 - 17 letters in von Recklinghausen
MEN - 2A and 2B with ret gene
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

16. What is the breakdown product of epi
Inc insulin - dec cAMP - dec PKA
Metanephrine
Nature and severity of phenotype vary from 1 individual to another - NF type 1
ATP

17. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Oxidative is irreversible
Von gierkes - glucose 6 phosphatase
Disorder of aromatic amino acid metabolism

18. What inhibits the carnitine shuttle
Mitochondria
Protein kinase A
Malonyl coa
Carnitine acyltransferase I

19. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Ile - phe - thr - trp
Marasmus - muscle wasting
Flagella - cilia - mitotic spindles
Proline and glycine (non glycosylated forms)

20. What is the mutation in beckers muscular dystrophy - What is the severity and time of onset
Not all individuals with a mutant genotype show the mutant phenotype
Mutated dystrophin gene - less severe - adolescence
Procollagen - triple helix of 3 alpha collagen chains
Bind 30s subunit preventing attachment of aminoacyl - tRNA

21. Who typically has lactase def
African Americans and Asians
Acetyl - CoA
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

22. What is the amino acid precursor for GABA and glutathione
Post to neg
Glutamate
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Malonyl coa

23. What is the initial transcript called and What is the capped and tailed transcript called
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Inc insulin - dec cAMP - dec PKA

24. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Oxidative and nonoxidative - no ATP produced or used
Degredation of TG circulating in chylomicrons and VLDLs

25. characterize autosomal domint inheritance
Niacin - constituent of NAD and NADP - derived from tryptophan
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Alpha 1 -4 glucosidase
Phenytoin - MTX - and sulfonamides

26. What does amino acid catabolsim results in the formation of what?
Ribose 5- P to PRPP
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

27. How is ammonium transported from muscle to the liver for urea cycle
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Fibroblast
B-100 - CII and E
Breaks down acyl - coa to acetyl coa groups in mito

28. What drugs can cause folate def
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Phenytoin - MTX - and sulfonamides
B-100 - CII and E
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

29. What is the treatment for cystathionine synthase def
TRNA
Dec methionine - inc cystiene - inc B12/folate
Fibroblast
Wobble

30. What happens in carnitine def
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
TRNA
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
They yield only acetyl - CoA equivalents

31. Where are cytosolic and organellar proteins made
Free ribosomes
Acetoacetate and beta hydroxybutyrate
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

32. What is a nonsense mutation
Alpha - ketoglutarate dehydrogenase complex
Wobble
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Change resulting in early stop codon

33. bilateral acoustic schwannomas - juvenile cataracts
Must be both activated and inactivated for cell cycle to progress
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Marasmus - muscle wasting
NF2 on chromosome 22

34. What is the Name and function of vit B2
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

35. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Pyruvate to oxaloacetate (3C to 4C)
Marasmus - muscle wasting
Arginine

36. In which structures do you find microtubules
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Flagella - cilia - mitotic spindles
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)
SnRNPs and other proteins

37. What is the smallest mutation a mircoarray can detect
SNP
Polycystic liver disease - berry aneurysm - mitral valve prolapse
9+2 arrangement of microtubules
Microarrays

38. What is the defect in II A familial hypercholesterolemia
DTMP
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Protein kinase A
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

39. How do tetracyclines work
30 - 50 - 70
Carnitine shuttle - acyl - coa from cyto to mito
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Modifies N- oligosaccharides

40. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
VLDL
ATP and methionine
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -

41. What feedback inhibits hexokinase
Glucose -6 phosphate
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Leu - lys

42. What inhibits pyruvate kinase
ATP and alanine
RRNA
Post to neg
75 to 90 - cloverleaf

43. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
AR
Cre - lox system
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Infection - free radicals generated by inflammatory response

44. What is the complication of cystinuria
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
MEN - 2A and 2B with ret gene

45. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Flagella - cilia - mitotic spindles
CAG - 4
Microtubules
RER

46. What 3 syndromes are associated with vit B1 def
Nissl body - enzyme and NTs
Wernicke - korsakoff - dry and wet beriberi
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Specific glycosylases - AP endonuclease

47. What is the fxn of vit K
Acetyl - CoA
One
FISH
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

48. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Glucose 6 phosphatase
Unmethylated - newly synthesized - HNPCC
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

49. What is the exception to genetic redundancy
RNA
Orotic acid to UMP
Methionine encode by only 1 codon (AUG)
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

50. What is disulfiram used for
LCAT (lecithin cholesterol acyltransferase)
B12 and folate
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms