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Biochemistry

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1. Who typically has lactase def
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
1 kind with multiple subunits
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
African Americans and Asians

2. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Dermatitis - alopecia - enteritis
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Von hippel lindau - 3
X- linked recessive

3. Where is EtOH dehydrogenase located
Cytosol
Degradation of TG stored in adipocytes
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

4. What enzyme converts phenylalanine to tyrosin
Phenylalanine hydroxylase
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Lacks glucose 6 phophatase

5. What does a mischarge tRNA do
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Reads usual codon but inserts wrong AA
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Makes RNA primer on which DNA poly III can initiate replication

6. How are the many staggered tropocollagen molecules reinforced
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Biotin
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Covalent cross - linking by lysyl oxidase to make collagen fibrils

7. How do aminoglycosides work
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Orotic acid to UMP
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
By inhibiting formation of the initiation complex and cause misreading of mRNA

8. Where is glucose 6 phosphatase found and What does it do
In ER - glucose 6- P to glucose
Facial flushing
Achondroplasia
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

9. What is RNAi used for
40 - 60 - 80
DsRNA promotes degradation of target mRNA knocking down gene expression
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Niacin - constituent of NAD and NADP - derived from tryptophan

10. nucleotide repeat for fragile x
CGG
Inhibit DNA gyrase specific for prokaryotic topoisomerase
FMR1 gene - methylation - associated with chromosomal breakage
Pseudomonas and s aureus

11. What is the TX for PKU
Degradation of TG remaining in IDL
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Chylomicrons
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

12. 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
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
ATP hyrdolysis couple to energetically unfavorable rxns
Williams syndrome
Ribos first then deoxyribos with ribonucleotide reductase

13. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Terminal regions - tropocollagen
Adds an inorganic phosphate onto substrate without using ATP

14. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Blood - bone marrown - amniotic fluid - placental tissue
75 to 90 - cloverleaf
RNA poly II
NAD+

15. This is the site where negative regulators bind
Silencers
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Avidin
Glycine

16. What produces NADPH
HMP shunt
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Glucose - 2Pi - 2ADP - 2NAD+
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

17. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Change resulting in early stop codon
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Von Gierke's - Pompe - Cori - McArdle

18. What co - factors are required for the pyruvated dehydrogenase complex
Inhibits 50S peptidyltransferase
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Leu - lys

19. What does a decrease in decrease in NADPH lead to and why
N to C
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Site of steroid synthesis and detoxification of drugs and poisons

20. What are the clinical features of I cell diesase
Williams syndrome
MRNA
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
RNA poly II

21. What happens in termination of proteins synthesis
Stop codon is recognized by release factor - and completed protein is released from ribosome
Liver hepatocytes and steroid producing cells of the adrenal cortex
1 ring
Neimann - pick - sphingomyelinase - sphingomyelin - AR

22. Gene imprinting implies that How many alleles are active at a single locus
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
2 rings
Actin and myosin
One

23. Synthesis of vit B3 requires what other vitamin
Wernicke - korsakoff - dry and wet beriberi
B6
OTC has hyperammonemia - orotic aciduira does not
UDP glucose pyrophosphorylase

24. What is the RDE of fatty acid oxidation
MRNA - tRNA
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Mitochondria
Carnitine acyltransferase I

25. In prokaryotes - What does makes the different types of RNA
Mucus secreting globlet cells and antibody secreting plasma cells
1 kind with multiple subunits
High output cardiac failure - dilated cardiomyopathy - edema
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

26. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Proton gradient
CAG
Exercise: inc NAD/NADH - inc ADP - inc Ca
Alpha 1 -6 and alpha 1 -4

27. What is the defect in fructose intolerance and What does it cause
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

28. Which enzyme involved in RNA synthesis does not require a template
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Essential fructosuria - fructokinase AR
Poly A polymerase - signal is AAUAA
Procollagen - triple helix of 3 alpha collagen chains

29. What is anticipation and give an example
Binds to LDL receptor - mediates VLDL secretion
Essential fructosuria - fructokinase AR
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

30. What is a nonsense mutation
Change resulting in early stop codon
Tryptophan
Supply sufficient glucose to brain and RBCs and to preserve protein
UDP glucose pyrophosphorylase

31. What is the RDE of glycogenolysis
HMG- CoA reductase
Niacin - constituent of NAD and NADP - derived from tryptophan
DNA
Glycogen phosphorylase

32. What does cytokeratin stain for
Epithelial cells
UDP glucose pyrophosphorylase
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

33. What does fomepizole do
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
2 -4 DNP - aspirin
Hypoglycemia
Sucrose = glucose + fructose - lactose = glucose + galactose

34. How many rings do purines have
UDP glucose pyrophosphorylase
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Core proteins
2 rings

35. What converts limit dextran to glucose
Debranching enzyme
Glycine - aspartate - glutamine
Glucose - 2Pi - 2ADP - 2NAD+
Tropoelastin with fibrillin scafolding

36. Mild Hurlurs + aggressive behavior no corneal clouding
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Particular sequence of DNA where replicatino begins - may be single of multiple
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
1 ring

37. What does Citrate Is Krebs starting substrate for making oxaloacetate
Protein kinase A
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
2pq
Specific glycosylases - AP endonuclease

38. In what cells do the respiratory burst occur
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
PMNs
Carbomoyl phosphate synthetase II
Anchor muscle fibers - primarily in skeletal and cardiac muscle

39. What happens in elongation of protein synthesis

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40. Where are cytosolic and organellar proteins made
HMG- CoA (HMG- CoA to mevalonate
Microtubules
B6
Free ribosomes

41. What is pleiotropy and given an example
Superoxide dismutase
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

42. What regulates whether FBPase -2 or PFK-2 is active
Protein kinase A
P2 +2pq+ = 1
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Activates LCAT

43. What happens to glycogen in the liver
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Phenylalanine hydroxylase
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

44. What does DNA ligase do
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Seals.
Elastase - inhibited by alpha1 antitrypsin

45. What happens in the first stage of collagen synthesis - and Where does it happen
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Alanine
Oxidative is irreversible
Glycogenolysis to form glucose

46. Where is PEP carboxykinase found - What does it do - and What does it require
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Krabbes - galactocerebrosidase - galactocerebroside - AR
P2 +2pq+ = 1
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

47. What do neurofilaments stain for
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Post to neg
Neurons
Glucose - 2Pi - 2ADP - 2NAD+

48. Which aspect of the spliceosome do patients with lupus make antibodies against
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
SnRNPs

49. What occurs to oxaloacetate in starvation and DKA
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Fibrofatty replacement of muscle - cardiac myopathy
Glycine - aspartate - glutamine

50. bilateral - massive enlargement of of kidneys due to multiple large cysts
Orotic acid to UMP
ADPKD
Carnitine acyltransferase I
Exercise: inc NAD/NADH - inc ADP - inc Ca

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Biochemistry

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