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Biochemistry

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1. What is used to diagnose muscular dystrophies
Inc dicarboxylic acids - dec in glucose and ketones
Inc CPK and muscle biopsy
Familial hypercholesterolemia - hyperlipidemia type IIA
ATP and methionine

2. How does ethanol induce hypoglycemia
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Supply sufficient glucose to brain and RBCs and to preserve protein

3. What substances inhibit phosphofructokinase -1
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Disorder of aromatic amino acid metabolism
ATP - citrate
Inc glucagon - inc cAMP - inc PKA

4. What does cytokeratin stain for
Epithelial cells
Arginine
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Degredation of TG circulating in chylomicrons and VLDLs

5. 1 g of protein or cabrohydrate = ?kcal
Consesus sequenec of base pairs
Neural tube
Four
APC on chromosome 5

6. What catacholamine step is SAM required for
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Inc melt - dec fluidity
Conversion of NE to epi

7. What chromosome is the NF gene on...
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Flank pain - hematuria - HTN - progressive renal failure
Skin
17 - 17 letters in von Recklinghausen

8. What is the RDE of gluconeogenesis
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Fructose 1 -6 bisphosphate
25OHD3
ADPKD

9. What converts limit dextran to glucose
Debranching enzyme
The triphosphate bond
PMNs
VMA

10. What happens in carnitine def
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Liver - ovaries - seminal vesicles
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

11. What are the symptoms of vit A excess
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
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
Post to neg
P2 +2pq+ = 1

12. What is the treatment for orotic aciduria
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
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Oral uridine administration

13. What is the mutation in beckers muscular dystrophy - What is the severity and time of onset
Niacin - constituent of NAD and NADP - derived from tryptophan
Mutated dystrophin gene - less severe - adolescence
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Conversion of NE to epi

14. What is the most abundant protein in the body
Collagen
PCR - denaturation - annealing - elongation
30 - 50 - 70
Flank pain - hematuria - HTN - progressive renal failure

15. What is the result of vit B5 def
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
RNA poly II
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Glucose 6 phosphate dehydrogenase (G6PD)

16. What does PURe As Gold and CUT The Py stand for
Palate - facial and cardiac defects
Purines= A - G pyrimidine = C - T (U)
Failure to track objects or develop a social smile
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

17. Where is glucose 6 phosphatase found and What does it do
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
In ER - glucose 6- P to glucose
Connective tissue
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

18. What does NADPH oxidase deficiency result in and why
B-100 - CII and E
Silencers
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Cofactor for LPL

19. What are bite cells and when do you see them
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
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Result from phagocytic removal of heinz bodies my macs - G6PD def
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

20. Where is PEP carboxykinase found - What does it do - and What does it require
Carbomoyl phosphate synthetase II
Base + ribose + phosphate (3' -5') phosphodiester bond
Unwinds DNA template at replcation fork
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

21. What substance inside the cells replenishes NADPH
G6PD
Locus heterogeneity - ocular albinism is x- linked recessive
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Liver - also in kidney and gut epithelium

22. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
HMP shunt
Antioxidant - protects RBCs and membrances from free radical damage
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Fibrofatty replacement of muscle - cardiac myopathy

23. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Mutated dystrophin gene - less severe - adolescence
Actin and myosin
Degradation of TG remaining in IDL

24. What are the findings in Down's syndrome
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
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Dec DNA - dec lymphos leads to SCID
75 to 90 - cloverleaf

25. What does DNA poly I do?
B6
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
CAG

26. Where do you find elastin and What does it do
Dec methionine - inc cystiene - inc B12/folate
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
DTMP
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

27. What kind of branches do glycogen branches have
FAP
Glucose 6 phosphate dehydrogenase (G6PD)
Alpha 1 -6 and alpha 1 -4
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

28. What converts DOPA to dopamine
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Hereditary spherocytosis
Dopa decarboxylase
Cofactor for LPL

29. Synthesis of vit B3 requires what other vitamin
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Assistance of upper extremities to stand up
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
B6

30. What apolipoprotein is on LDL
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Reads usual codon but inserts wrong AA
Glycogen and FFA oxidation; glucose conserved for final sprinting
B100

31. Which direction does kinesin go
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Pseudomonas and s aureus
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Neg to pos

32. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
Stop codon is recognized by release factor - and completed protein is released from ribosome
Phosphofructokinase 1
PCR - denaturation - annealing - elongation

33. How do tetracyclines work
Exons
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Marasmus - muscle wasting
Binds 50S - blocking translocation

34. What polar group does guanine have - and what non polar group does thymine have
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Ketone - methyl
Cartilage - hyaline - vitreous body - nucleus pulposus

35. What is axonemal dynein
Only processed RNA
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Alkaptonuria - may have debiliating arthralgias
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

36. Which carbon bears the triphosphate and the energy source for bond formation

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37. What happens in hyperammonemia
APC on chromosome 5
ATP - citrate
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Facial flushing

38. congenital microdeletion of short arm of chromosome 5 with microcephaly - moderate to severe mental retardation - high pitched crying/meying - epicanthal folds - cardiac abnl
Mediates chylomicron secretion
Two
Cri du chat
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

39. What does a defective Cl channel do
ATP
Connective tissue
Ca/calmodulin in muscle to coordinate with muscle activity
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

40. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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41. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Orotic acid to UMP
Mebendazole/thiabendazole
Exons

42. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Protective against malaria
Inc insulin - dec cAMP - dec PKA
Ile - phe - thr - trp

43. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
CAG - 4
Prevent strands from reannealing
Colchicine
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

44. What happens in zinc def
RNA
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
ADPKD
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

45. What 3 amino acids are necessary for purine synthesis
Glucose - 2Pi - 2ADP - 2NAD+
Glycine - aspartate - glutamine
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
Abnormal protein folding - degradation before reaching cell surface

46. What does acetyl - CoA become before becoming palmitate
B100
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

47. Mild Hurlurs + aggressive behavior no corneal clouding
Ketone - methyl
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

48. What is the defect in II A familial hypercholesterolemia
Initiate chains
FMR1 gene - methylation - associated with chromosomal breakage
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

49. What is the defectin IV - hypertriglyceridemia
B-100 - CII and E
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
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

50. What are the 4 assumption of the Hardy Weinberg law
HMG- CoA synthase
Degredation of dietary TG in small intestine
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Neurons

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Biochemistry

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