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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 is the physiologic role of dystrophin
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Von hippel lindau - 3
Fasting
Assistance of upper extremities to stand up

2. Where are FADH2 electrons transferred to...
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Comlex II
Pyruvate to oxaloacetate (3C to 4C)
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

3. What does cytokeratin stain for
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Antibiotic use or excessive ingestion of raw eggs
MEN - 2A and 2B with ret gene
Epithelial cells

4. In what cell is collagen synthesis initiated
Leu - lys
EtOH dehydrogenase and acetaldehyde dehydrogenase
Schwann cells - lens - retina - kidneys
Fibroblast

5. What polar group does guanine have - and what non polar group does thymine have
Ketone - methyl
Euchromatin
Night blindness - dry skin
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

6. What enzyme converts phenylalanine to tyrosin
Oxalacetate
HVA
Kidney - ears - eyes
Phenylalanine hydroxylase

7. How do microtubules grow and collapse
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Grows slowly - collapses quickly
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

8. What makes up a nucleotide

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9. 90% of ADPKD cases are due to a mutation In what gene
APKD1 on chromosome 16
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Histidine
RNA poly II

10. What is the breakdown product of epi
B-100 - CII and E
Metanephrine
Degredation of TG circulating in chylomicrons and VLDLs
Dermatitis - enteritis - alopecia - adrenal insuff

11. How do labile celss grow and regenerate and What are examples
Mediates chylomicron secretion
HVA
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

12. What happens at the smooth ER
TTP
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
SnRNPs and other proteins
Site of steroid synthesis and detoxification of drugs and poisons

13. What defects characterize velocardiofacial syndrome
Methionine encode by only 1 codon (AUG)
Degredation of dietary TG in small intestine
Activates LCAT
Palate - facial and cardiac defects

14. Which antihelminthe drugs work on microtubules
Mebendazole/thiabendazole
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Procollagen - triple helix of 3 alpha collagen chains
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

15. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Dopa decarboxylase
Glycine
X linked frame shif mutation
Diphyllobothrium latum

16. What shuttle is used in fatty acid degredation and What does it move and From where to where
Protective against malaria
Cri du chat
Carnitine shuttle - acyl - coa from cyto to mito
SnRNPs

17. What causes Marfan syndrome
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Night blindness - dry skin
Met - val - arg his
Defect in fibrillin

18. What is the energy source after day 3 of starvation
The triphosphate bond
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
CarTWOlage

19. What does the vimentin stain for
B100 and E
Schilling test
Connective tissue
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

20. protein malnutrition resulting in skin lesions - edema and liver malfxn
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Fed
Kwashiorkor - small child with swollen belly

21. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Williams syndrome
Hyperlipidemia
Achondroplasia
Inc melt - dec fluidity

22. What are the symptoms of vit A def
Night blindness - dry skin
ADPKD
HMG- CoA synthase
HVA

23. What apolipoprotein is on LDL
B100
LCAT (lecithin cholesterol acyltransferase)
Debranching enzyme
Inc glucagon - inc cAMP - inc PKA

24. When does aspartate enter the urea cycle
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
After citruline
CTG

25. What does the CFTR channel do in the lungs - GI tract and skin
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Active secretion in lungs and GI - reabsorbs in skin
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
No - its non homologous

26. Where is fructose 1 -6 bisphosphatase found and What does it do
GTP
Kidney - ears - eyes
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Cytosol - F 1 -6 BP to fructose 6 Phosphate

27. What causes biotin def
Glycolysis and aerobic respiration
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Antibiotic use or excessive ingestion of raw eggs
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

28. What are CDKs
Tryptophan
Inc insulin - dec cAMP - dec PKA
Cyclin dependent kinases;constitutive and inactive
Achondroplasia

29. Type I collagen
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
B100
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Cytosol - F 1 -6 BP to fructose 6 Phosphate

30. If two alleles are present - but the active allele is deleted - what happens
Acetly- CoA - CO2 - NADH
Disease
2pq
N to C

31. What is the defectin IV - hypertriglyceridemia
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
BOne
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Hyperlipidemia

32. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
25OHD3
G6PD
Orotic acid to UMP
Cytosol

33. What two rxns in in glycolysis require ATP
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
CGG
SnRNPs

34. What is the TX for hyper ammonemia
III - joint dislocation - anuerysms - organ rupture
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Nissl body - enzyme and NTs
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

35. What does apoA 1 do
Activates LCAT
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
SnRNPs and other proteins
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

36. How many ATP are produced by anearobic glycolysis per molecule of glucose
Cri du chat
Glycogen and FFA oxidation; glucose conserved for final sprinting
Robertsonian translocation and mosaicism
Two

37. What are purines made from
IMP precursor
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Inc glucagon - inc cAMP - inc PKA
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

38. What is the TX for PKU
Microarrays
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Lysine and arginine

39. Why does alpha amanitin cause liver failure and Where is it found
Inhibits RNA polymerase II - found in death cap mushrooms
17 - 17 letters in von Recklinghausen
III - joint dislocation - anuerysms - organ rupture
X linked frame shif mutation

40. What is the origin of replication
Particular sequence of DNA where replicatino begins - may be single of multiple
Mediates chylomicron secretion
Nissl body - enzyme and NTs
Proline and glycine (non glycosylated forms)

41. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Met - val - arg his
Carnitine acyltransferase I
Four
Intermediate filaments

42. What is the RDE of the urea cycle
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Carbomoyl phosphate synthetase I
Each codon specifies only 1 amino acid
Alpha 1 -4 glucosidase

43. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
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
More than 1 codon may code for the same amino acid
Myeloperoxidase
Terminal regions - tropocollagen

44. What does hepatic TG lipase do
Degradation of TG remaining in IDL
Diphyllobothrium latum
Makes RNA primer on which DNA poly III can initiate replication
Grows slowly - collapses quickly

45. How do you diagnose CFTR
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Palate - facial and cardiac defects
Essential fructosuria - fructokinase AR
Inc Cl - in sweat

46. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
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)
Infection - free radicals generated by inflammatory response
Change resulting in early stop codon
Alpha and beta tubulin - dimers have two GTP bound

47. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
UDP glucose pyrophosphorylase
Cleft palate - cardiac abnl - pregs test
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
HMG- CoA (HMG- CoA to mevalonate

48. Why is G6PD def more common among patients of african decent
Grows slowly - collapses quickly
Cartilage - hyaline - vitreous body - nucleus pulposus
Protective against malaria
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

49. What converts DOPA to dopamine
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Euchromatin
Dopa decarboxylase
Glucose 6 phosphatase

50. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Citrate - acetyl coa from mito to cyto
Modifies N- oligosaccharides
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Anabolic processes as a supply of reducing equivalents