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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. How is orotic aciduria inherited
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
AR
EtOH dehydrogenase and acetaldehyde dehydrogenase
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

2. What is incomplete penetrence and give an example
Avidin
Not all individuals with a mutant genotype show the mutant phenotype
HMG- CoA synthase
Y shaped region along the DNA template where leading nad lagging strands are synthesized

3. What is kartageners syndrome
Paclitaxel
Malonyl coa
Mediates chylomicron secretion
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

4. What makes up a nucleotide

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5. What is the wernicke - korsakoff clinical picture
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
TTP
ATP hyrdolysis couple to energetically unfavorable rxns

6. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Microtubules
CAG - 4
Unmethylated - newly synthesized - HNPCC
Alpha 1 -6 and alpha 1 -4

7. What enzyme becomes essential in PKU
Tyrosine
Q -
CAG - 4
Niacin - constituent of NAD and NADP - derived from tryptophan

8. What metabolic rxns occur in the mitochondria
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
Result from phagocytic removal of heinz bodies my macs - G6PD def
Mediates chylomicron secretion
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

9. What does DNA poly III do?

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10. What are the findings in PKU
Glycolysis and aerobic respiration
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Mediates chylomicron secretion

11. What does the TCA cycle produce per 1 acetyl CoA
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
MRNA - tRNA
Hypoglycemia

12. What happens to glycogen in the liver
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

13. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Hereditary spherocytosis
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Fibroblast

14. What is I cell disease
Cytosol
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Malonyl coa

15. What is the energy source in the fed state right after a meal
Superoxide dismutase
Hyperlipidemia
HMG- CoA synthase
Glycolysis and aerobic respiration

16. What happens in vit B2 def
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Inhibits 50S peptidyltransferase
Alanine

17. Why is albinism inheritnace varialbe due to...
Locus heterogeneity - ocular albinism is x- linked recessive
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Acetly- CoA - CO2 - NADH
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

18. How is ATP used by the cell
CGG
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
HDL
ATP hyrdolysis couple to energetically unfavorable rxns

19. What is the energy source for translocation
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
VLDL
GTP
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

20. What does the ELISA test for
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Binds to LDL receptor - mediates VLDL secretion
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

21. Type III collagen
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Mediates extra remnant take up
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia

22. What converts tyrosine to DOPA
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Wobble
Tryosine hydroxylase
2pq

23. What activates the pyruvate dehydrogenase complex
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Exercise: inc NAD/NADH - inc ADP - inc Ca
B48 - AIV - CII - E

24. How do you diagnose CFTR
AMP - fructose 2 -6 BP
Fibroblast
Inc Cl - in sweat
O- oligosaccharaides

25. Where is glucose 6 phosphatase found and What does it do
Alpha 1 -6 and alpha 1 -4
In ER - glucose 6- P to glucose
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Chylomicrons

26. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Ribos first then deoxyribos with ribonucleotide reductase
HMG- CoA synthase
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

27. When does aspartate enter the urea cycle
Nissl body - enzyme and NTs
Huntingtons
Dermatitis - glossitis - and diarrhea
After citruline

28. Where are cytosolic and organellar proteins made
Free ribosomes
Infection - free radicals generated by inflammatory response
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Fibrofatty replacement of muscle - cardiac myopathy

29. What is the fxn of vit K
Phenylalanine hydroxylase
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Chylomicrons
Alpha 1 -6 and alpha 1 -4

30. Type I bone
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
BOne
Glucose -6 phosphate
Bind 30s subunit preventing attachment of aminoacyl - tRNA

31. In which structures do you find microtubules
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Flagella - cilia - mitotic spindles
Tryptophan
Fructose 1 -6 bisphosphate

32. What happens in a B12 def
Niacin - constituent of NAD and NADP - derived from tryptophan
Isocitrate dehydrogenase
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

33. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Malabsorption and steatorrhea (ADEK)
Williams syndrome
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

34. What liberates glucose from glucose 6 P
Same as sprint + OXPHOS
Phenylketones in urine
Hereditary spherocytosis
Glucose 6 phosphatase

35. What is trimming
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Removal of N or C termal propeptides from zymogens to generate mature proteins
Particular sequence of DNA where replicatino begins - may be single of multiple
CAG

36. How does insulin inhibit glycogenolysis
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
After day 1
Cartilage - hyaline - vitreous body - nucleus pulposus

37. What creates the musty body odor in PKU
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Alpha 1 -4 glucosidase
Mebendazole/thiabendazole
Disorder of aromatic amino acid metabolism

38. What is the function of biotin
Superoxide dismutase
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Alpha and beta tubulin - dimers have two GTP bound
FAP

39. characterize autosomal domint inheritance
Cyclin dependent kinases;constitutive and inactive
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Mucus secreting globlet cells and antibody secreting plasma cells
30 - glycerol -3- phosphate shuttle

40. What is the RDE of glycogen synthesis
Glycogen synthase
Familial hypercholesterolemia - hyperlipidemia type IIA
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Result from phagocytic removal of heinz bodies my macs - G6PD def

41. trinucleotide repeat for huntingtons
Eu - methionine - pro - formyl - methionine
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
CAG
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

42. FAP is due to deletion On what gene On what chromosome
Schilling test
APC on chromosome 5
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Not all individuals with a mutant genotype show the mutant phenotype

43. What happens in termination of proteins synthesis
Arg and his inc in histones Which bind negatively charged DNA
Stop codon is recognized by release factor - and completed protein is released from ribosome
N to C
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

44. What happens with dry beriberi
Intermediate filaments
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Polyneuritis - symmetrical muscle wasting

45. What converts dopamine to NE
Dopamine beta hydroxylase
Same as sprint + OXPHOS
Hereditary spherocytosis
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

46. In prokaryotes - What does makes the different types of RNA
Connective tissue
1 kind with multiple subunits
Von gierkes - glucose 6 phosphatase
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

47. What does a western blot use for its sample
Protein
Malapsorption syndromes like sprue or CF or mineral oil intake
Infection - free radicals generated by inflammatory response
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

48. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Dec DNA - dec lymphos leads to SCID
Inhibits 50S peptidyltransferase
Tyrosine

49. In what cell is collagen synthesis initiated
MEN - 2A and 2B with ret gene
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Fibroblast
Hereditary spherocytosis

50. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
SAM
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Adds 2 carbon with the help of biotin
Neimann - pick - sphingomyelinase - sphingomyelin - AR