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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 regulates whether FBPase -2 or PFK-2 is active
Read from a fixed starting point as a continuous sequence of bases
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Glucose - 2Pi - 2ADP - 2NAD+
Protein kinase A

2. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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3. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Prevent strands from reannealing
Oligomycin
Dermatitis - enteritis - alopecia - adrenal insuff
Glycolysis and aerobic respiration

4. What defects characterize DiGeorge syndrome
Thymic - parathyroid and cardiac
SnRNPs
Terminal regions - tropocollagen
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

5. in a 100 meter sprint Where does energy come from
Glutamate
MRNA
CTG
Stored ATP - creatine phosphate - anaerobic glycolysis

6. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
2 -4 DNP - aspirin
CGG
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

7. Which antihelminthe drugs work on microtubules
Lysine and leucine
Terminal regions - tropocollagen
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Mebendazole/thiabendazole

8. What does glycosylation of pro alpha chian yield and What is the structure
Procollagen - triple helix of 3 alpha collagen chains
HVA
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Arg and his inc in histones Which bind negatively charged DNA

9. Broadly - What can cause fat - soluble vitamin deficiencies
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Mcardle's - skeletal muscle glycogen posphorylase
Malapsorption syndromes like sprue or CF or mineral oil intake
Only processed RNA

10. Do balanced translocations cause abnl phenotype
Mediates extra remnant take up
No
Ketone - methyl
Glucose -6 phosphate

11. characterize autosomal domint inheritance
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
B12 and folate
Inhibits RNA polymerase II - found in death cap mushrooms
Ribos first then deoxyribos with ribonucleotide reductase

12. What does universal genetic code refer to and What are some exception
30 - glycerol -3- phosphate shuttle
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

13. What is the most common urea cycle disorder and What is the mode of inheritance?
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

14. How do macrolides and clindamycin work
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
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
Binds 50S - blocking translocation
DNA

15. What is the RDE of fatty acid oxidation
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Mcardle's - skeletal muscle glycogen posphorylase
Carnitine acyltransferase I
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

16. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
VLDL
Glycogen and FFA oxidation; glucose conserved for final sprinting

17. Which antifungal drugs work on microtubules
Griseofulvin
Glycine
Initiate chains
Euchromatin

18. I g fat = ? Kcal
Neurons
Inhibits the Na/K pump by binding the K side
SnRNPs
Nine

19. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
CTG
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year

20. What does apoCII do
Mitochondria
Modifies N- oligosaccharides
Makes RNA primer on which DNA poly III can initiate replication
Cofactor for LPL

21. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Rb and p53
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Flank pain - hematuria - HTN - progressive renal failure

22. What does a defective Cl channel do
Rb and p53
Supply sufficient glucose to brain and RBCs and to preserve protein
Stored ATP - creatine phosphate - anaerobic glycolysis
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

23. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Pyruvate to oxaloacetate (3C to 4C)
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
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

24. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Flank pain - hematuria - HTN - progressive renal failure
Oxidative and nonoxidative - no ATP produced or used
B6

25. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Carnitine acyltransferase I
Specific glycosylases - AP endonuclease
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Mebendazole/thiabendazole

26. What is the most abundant type of RNA
Connective tissue
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
RRNA
Protein kinase A

27. What happens with wet beriberi
G6PD
Nonsense > missense > silent
High output cardiac failure - dilated cardiomyopathy - edema
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

28. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Krabbes - galactocerebrosidase - galactocerebroside - AR
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Alcohol version of glucose - can trap glucose in cell - aldose reductase

29. What happens on the oxidative arm of the HMP shunt and What is the key enzyme
They yield only acetyl - CoA equivalents
Exons
Degredation of dietary TG in small intestine
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

30. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Actin and myosin
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Removal of N or C termal propeptides from zymogens to generate mature proteins

31. What happens in carnitine def
HDL
Lysine and leucine
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
DsRNA promotes degradation of target mRNA knocking down gene expression

32. What does the golgi assemble proteoglycans from
Core proteins
Dermatitis - glossitis - and diarrhea
B12 and folate
Niacin - constituent of NAD and NADP - derived from tryptophan

33. What 3 amino acids are necessary for purine synthesis
Citrate - acetyl coa from mito to cyto
Glycine - aspartate - glutamine
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Glutamine PRPP amidotransferase

34. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Adds an inorganic phosphate onto substrate without using ATP
Wobble
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
CG- 3 > AT-2 - More CG content - melting point goes up

35. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Cleft palate - cardiac abnl - pregs test
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

36. What is the smallest mutation a mircoarray can detect
SNP
Sulfation
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Inhibits the Na/K pump by binding the K side

37. What does the CFTR channel do in the lungs - GI tract and skin
Neuralgia
High output cardiac failure - dilated cardiomyopathy - edema
Histidine
Active secretion in lungs and GI - reabsorbs in skin

38. What happens to glycogen in the liver
Activates LCAT
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Hereditary spherocytosis
Oxalacetate

39. What is the longest time of RNA and shortest
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
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Alpha and beta tubulin - dimers have two GTP bound
MRNA - tRNA

40. What drugs can cause folate def
II - VII - IX - X (1972) protein C and S
Phenytoin - MTX - and sulfonamides
Nine
Alpha 1 -6 and alpha 1 -4

41. How do microtubules grow and collapse
Kwashiorkor - small child with swollen belly
Grows slowly - collapses quickly
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Neurons

42. What is dominant negative mutation and give an example
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
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Inc insulin - dec cAMP - dec PKA

43. Type II cartilage
Avidin
30 - 50 - 70
CarTWOlage
Night blindness - dry skin

44. What are the 4 assumption of the Hardy Weinberg law
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
5' of the incoming nucleotide
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
CAG

45. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Glycolysis and aerobic respiration
IDL
ATP - citrate
Muscle

46. NADPH are used In what 4 things
X- linked recessive
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Mediates extra remnant take up

47. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
Glycogen and FFA oxidation; glucose conserved for final sprinting
Zero
Flank pain - hematuria - HTN - progressive renal failure

48. Which anticancer drugs work on microtubules
DsRNA promotes degradation of target mRNA knocking down gene expression
Collagen
Vincritsine/vinblastine
Griseofulvin

49. How does patients present with ADPKD
Pyruvate - NAD+ - CoA
Flank pain - hematuria - HTN - progressive renal failure
L form
DTMP

50. What two proteins make up microtubules and how are they arranged
Robertsonian translocation and mosaicism
Alpha and beta tubulin - dimers have two GTP bound
30 - 50 - 70
FAP