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Biochemistry

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1. What is variable expression and What is an example
B-100 - CII and E
Nature and severity of phenotype vary from 1 individual to another - NF type 1
GAA
SnRNPs and other proteins

2. What CETP do
9+2 arrangement of microtubules
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Inhibit DNA gyrase specific for prokaryotic topoisomerase

3. What does desmin stain for
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Muscle
Proline and glycine (non glycosylated forms)

4. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Carnitine shuttle - acyl - coa from cyto to mito
Cytosol - F 1 -6 BP to fructose 6 Phosphate
2pq
Euchromatin

5. What is the defect in cystinuria
Von gierkes - glucose 6 phosphatase
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Cyclin dependent kinases;constitutive and inactive

6. What is the Name and fxn of vit B12
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Medial dorsal nucleus of thalamus - mamillary bodies
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

7. How is ATP used by the cell
ATP hyrdolysis couple to energetically unfavorable rxns
Microtubules
Muscle
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

8. The pyruvate dehydorgenase complex serves In what reaction: reactants
Pyruvate - NAD+ - CoA
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Von hippel lindau - 3

9. What happens do glycogen in skeletal muscle during exercise
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Glycogenolysis to form glucose
Pyruvate - NAD+ - CoA
Attachment of ubiquitin to defective proteins tag them for breakdown

10. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
PMNs
Chylomicrons
Leu - lys
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles

11. What happens in a B12 def
RER
Mitochondria
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

12. Milder form of type I with nl blood lactate levels - dz and enzyme

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13. What is the fxn of vit E
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Antibiotic use or excessive ingestion of raw eggs
Antioxidant - protects RBCs and membrances from free radical damage
Liver - ovaries - seminal vesicles

14. What is locus heterogeneity and give an example
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Transfers methyl units
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

15. What is the main source of folate
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Glucose 6 phosphate dehydrogenase (G6PD)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Foliage - small reserve in liver - eat green leaves

16. Name 5 drugs that interfere with nucleotide synthesis
Dermatitis - alopecia - enteritis
TTP
ATP - citrate
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

17. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Oxidizes substrate
CG- 3 > AT-2 - More CG content - melting point goes up
Lariat shape in order and remove intron precisely and join 2 exons

18. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Autosomal recessive diseases
Males are infertile due to bilateral absence of vas deferens
32 - malate aspartate shuttle

19. What is the origin of replication
Particular sequence of DNA where replicatino begins - may be single of multiple
Liver - also in kidney and gut epithelium
Initiate chains
Phenytoin - MTX - and sulfonamides

20. What are the characteristics of prader willi syndrome How does it occur
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Oral uridine administration
HGPRT - defective purine salvage - excess uric acid production

21. What is the amino acid precursor for catecholamines
Phenylalanine
Must be both activated and inactivated for cell cycle to progress
2pq
Enhancers

22. Which are the basic amino acids
Arg - lys - his - arg is most basic - has has no charge at body pH
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
IMP precursor
Facial flushing

23. Which enzyme involved in RNA synthesis does not require a template
Poly A polymerase - signal is AAUAA
Procollagen - triple helix of 3 alpha collagen chains
Removal of N or C termal propeptides from zymogens to generate mature proteins
Phenylalanine hydroxylase

24. What metabolic rxns occur in the cytoplasm
THFs
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Sucrose = glucose + fructose - lactose = glucose + galactose
Glutamate

25. What is the active form of vit D
BOne
Exons
Robertsonian translocation and mosaicism
1 -25 OH2 D3 = calcitriol

26. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Liver - also in kidney and gut epithelium
Same as sprint + OXPHOS
CAG - 4

27. 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
Wobble
Alpha 1 -4 glucosidase
Arg and his inc in histones Which bind negatively charged DNA
Catabolic processes to carry reducing equivalents away as NADH

28. What is the RDE of the HMP shunt
Glucose 6 phosphate dehydrogenase (G6PD)
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Liver - ovaries - seminal vesicles
Cartilage - hyaline - vitreous body - nucleus pulposus

29. What does the TCA cycle produce per 1 acetyl CoA
Inc dicarboxylic acids - dec in glucose and ketones
Ketone - methyl
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

30. What are the glucogenic/ketogenic amino acids
Carnitine shuttle - acyl - coa from cyto to mito
F16BP
Ile - phe - thr - trp
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

31. What does vit E def cause
Huntingtons
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Antibiotic use or excessive ingestion of raw eggs
Tuberous sclerosis

32. Type II collagen
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Cartilage - hyaline - vitreous body - nucleus pulposus
Malapsorption syndromes like sprue or CF or mineral oil intake
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

33. How is ammonium transported from muscle to the liver for urea cycle
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Dec methionine - inc cystiene - inc B12/folate
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

34. What does degenerate/rundant genetic code refer to...
More than 1 codon may code for the same amino acid
30 - 50 - 70
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Pyruvate to oxaloacetate (3C to 4C)

35. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA

36. What is the amino acid precursor for porphyrin and heme
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected
9+2 arrangement of microtubules
Glycine
Antioxidant - protects RBCs and membrances from free radical damage

37. What 3 steps in RNA processing occur after transcription

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38. What does an umabiguous genetic code refer to...
Supply sufficient glucose to brain and RBCs and to preserve protein
Transfers methyl units
Procollagen - triple helix of 3 alpha collagen chains
Each codon specifies only 1 amino acid

39. What is the hardy weinberg allele prevalence
P+q = 1
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
Consesus sequenec of base pairs
Carbomoyl phosphate synthetase II

40. Where is vit A found in the diet
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Mebendazole/thiabendazole
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Liver and leafy veggies

41. What does a defective Cl channel do
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Removal of N or C termal propeptides from zymogens to generate mature proteins
Chylomicrons

42. What are the findings in PKU
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Degradation of TG stored in adipocytes
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

43. What are the findings in orotic aciduria
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
NF2 on chromosome 22
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Catabolic processes to carry reducing equivalents away as NADH

44. What causes Edwards syndrome and What is it
Alpha1 antitrypsin
X- linked recessive
Read from a fixed starting point as a continuous sequence of bases
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

45. Do balanced translocations cause abnl phenotype
Lariat shape in order and remove intron precisely and join 2 exons
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
No
Peroxide

46. What is the target of the 3' hydroxyl attack
Ile - phe - thr - trp
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
The triphosphate bond

47. What are the names and sources of the two types of vit D found in nature
Myeloperoxidase
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
FAP
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

48. What shuttle is used in fatty acid degredation and What does it move and From where to where
Carnitine shuttle - acyl - coa from cyto to mito
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
VLDL
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

49. In what cell is collagen synthesis initiated
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Fibroblast

50. How does OTC def present
FAP
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
Lysine and leucine
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

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Biochemistry

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