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Biochemistry

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1. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
PCR - denaturation - annealing - elongation
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Protective against malaria
G6PD

2. What do def in in enzymes of gluconeogenesis cause
Glycine
Hypoglycemia
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Base + ribose + phosphate (3' -5') phosphodiester bond

3. What are the two transgenic strategies in mice
Result from phagocytic removal of heinz bodies my macs - G6PD def
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Adenosine to inosine
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

4. Synthesis of vit B3 requires what other vitamin
Type II
B6
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
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

5. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Dopa decarboxylase
Microarrays
Dermatitis - enteritis - alopecia - adrenal insuff
30 - 50 - 70

6. What does apoCII do
Targets the proteins for lysosome
Cofactor for LPL
THFs
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

7. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Failure to track objects or develop a social smile
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Scrutinizes - hydrolyzes the bond
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

8. What does SAM do
SnRNPs and other proteins
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Flagella - cilia - mitotic spindles
Transfers methyl units

9. What is linkage disequilibrium
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Intermediate filaments

10. What does amino acid catabolsim results in the formation of what?
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Makes RNA primer on which DNA poly III can initiate replication
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

11. What induces pyruvate kinase
TTP
Night blindness - dry skin
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
F16BP

12. In which direction is protein synthesized
Core proteins
Mebendazole/thiabendazole
N to C
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR

13. What is variable expression and What is an example
Degradation of TG remaining in IDL
30 - glycerol -3- phosphate shuttle
1 kind with multiple subunits
Nature and severity of phenotype vary from 1 individual to another - NF type 1

14. What produces NADPH
HMP shunt
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
1 kind with multiple subunits
MEN - 2A and 2B with ret gene

15. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

16. What CETP do
Ca/calmodulin in muscle to coordinate with muscle activity
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
III - joint dislocation - anuerysms - organ rupture
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

17. What does hepatic TG lipase do
Acetoacetate and beta hydroxybutyrate
Zero
Degradation of TG remaining in IDL
Ile - phe - thr - trp

18. What metabolic rxns occur in the cytoplasm
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
32 - malate aspartate shuttle

19. Why is albinism inheritnace varialbe due to...
Locus heterogeneity - ocular albinism is x- linked recessive
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Intermediate filaments
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

20. What reaction does adenosine deaminase normally catalyze
NADPH
Foliage - small reserve in liver - eat green leaves
Lariat shape in order and remove intron precisely and join 2 exons
Adenosine to inosine

21. What is the RDE of fatty acid oxidation
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Carnitine acyltransferase I
CFTR gene - 7 - Phe 508
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

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

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23. What is the wernicke - korsakoff clinical picture
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
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
UGA - UAA and UAG

24. In eukaryotes - What does RNA poly II make
Malonyl coa
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Infection - free radicals generated by inflammatory response
MRNA

25. How does OTC def present
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
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
CAG
Schilling test

26. What is the exception to genetic redundancy
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Ketone - methyl
Methionine encode by only 1 codon (AUG)
Silencers

27. Why does alpha amanitin cause liver failure and Where is it found
Arginine
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Inc CPK and muscle biopsy
Inhibits RNA polymerase II - found in death cap mushrooms

28. What does universal genetic code refer to and What are some exception
Binds 50S - blocking translocation
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Glucose 6 phosphate dehydrogenase (G6PD)
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

29. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Proton gradient
ADPKD
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies

30. What is the smallest mutation a mircoarray can detect
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
SNP
Skin
Alcohol version of glucose - can trap glucose in cell - aldose reductase

31. What does lipoprotein lipase do
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Degredation of TG circulating in chylomicrons and VLDLs
Elastase - inhibited by alpha1 antitrypsin

32. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Inc melt - dec fluidity
Microtubules
30 - glycerol -3- phosphate shuttle
Acetyl - CoA

33. 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)
Zero
Wernicke - korsakoff - dry and wet beriberi
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma

34. What test is used for B12 def
Change resulting in early stop codon
Glycogen synthase
Flagella - cilia - mitotic spindles
Schilling test

35. ADPKD is associated with What additional conditions
30 - glycerol -3- phosphate shuttle
Hypoxanthine to xanthing and xanthine to uric acid
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

36. What enzyme turns ROS to H2O2
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Superoxide dismutase
Semiconservative - continuous and discontinuous strands (okazaki fragments)
CFTR gene - 7 - Phe 508

37. What is the result of vit B5 def
Protein
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Dermatitis - enteritis - alopecia - adrenal insuff
No

38. What does DNA poly I do?
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Q -
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

39. What is the activated carrier for aldehyddes
SnRNPs
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Dopa decarboxylase
TTP

40. What converts DOPA to dopamine
B6
Dopa decarboxylase
Peroxide
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

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

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42. What rxn creates ATP
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Phenylalanine
Autosomal recessive diseases
Supply sufficient glucose to brain and RBCs and to preserve protein

43. What happens to glycogen in the liver
FMR1 gene - methylation - associated with chromosomal breakage
Site of steroid synthesis and detoxification of drugs and poisons
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

44. What is the mutation in beckers muscular dystrophy - What is the severity and time of onset
Mutated dystrophin gene - less severe - adolescence
Mediates chylomicron secretion
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
X- linked recessive

45. What happens to oxaloacetate in alcholism
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Acetyl - CoA carboxylase (ACC)
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

46. How many rings do purines have
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Kwashiorkor - small child with swollen belly
2 rings
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

47. What is incomplete penetrence and give an example
ATP and alanine
Not all individuals with a mutant genotype show the mutant phenotype
Type II
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

48. What can vit B3 be used to treat
Dopa decarboxylase
Hyperlipidemia
HDL
NF2 on chromosome 22

49. What is I cell disease
BOne
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Debranching enzyme

50. Where is PEP carboxykinase found - What does it do - and What does it require
Unmethylated - newly synthesized - HNPCC
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Inc glucagon - inc cAMP - inc PKA
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

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Biochemistry

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