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Biochemistry

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Answer 50 questions in 15 minutes.
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1. What are ketone bodies made from - where are they metabolized and how are they excreted
TTP
Peroxide
Diphyllobothrium latum
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

2. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
B48 - AIV - CII - E
Euchromatin
GTP
Infection - free radicals generated by inflammatory response

3. pyruvate carboxylase catalyzes what rxn
MEN - 2A and 2B with ret gene
Pyruvate to oxaloacetate (3C to 4C)
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
African Americans and Asians

4. What substances are uncouling agents
2 -4 DNP - aspirin
Dec methionine - inc cystiene - inc B12/folate
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Glycolysis and aerobic respiration

5. What is the RDE of gluconeogenesis
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Facial flushing
Fructose 1 -6 bisphosphate
More than 1 codon may code for the same amino acid

6. What happens in carnitine def
III - joint dislocation - anuerysms - organ rupture
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Wernicke - korsakoff - dry and wet beriberi
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

7. What enzyme turns ROS to H2O2
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
Superoxide dismutase
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Breaks down acyl - coa to acetyl coa groups in mito

8. In which state is FBPase -2 active
Tropoelastin with fibrillin scafolding
Fasting
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

9. What does a western blot use for its sample
Autosomal recessive diseases
Protein
Marfans
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

10. What apolipoprotein is on LDL
Comlex II
B100
NAD+
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

11. What does hormone sensitive lipase do
Skin
TTP
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Degradation of TG stored in adipocytes

12. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Core proteins
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Tuberous sclerosis
DTMP

13. What does acetyl - CoA become before becoming palmitate
FAP
CAG - 4
NF2 on chromosome 22
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

14. How is ATP used by the cell
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
ATP hyrdolysis couple to energetically unfavorable rxns
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Mcardle's - skeletal muscle glycogen posphorylase

15. What is anticipation and give an example
Inc vit B6
Base + ribose + phosphate (3' -5') phosphodiester bond
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Phosphofructokinase 1

16. What happens in folate def
Lysine and arginine
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
2pq
HVA

17. What is trimming
ATP and methionine
Nine
Removal of N or C termal propeptides from zymogens to generate mature proteins
Neimann - pick - sphingomyelinase - sphingomyelin - AR

18. What substances directly inhibit electron transport chain
Rotenone - CN- - antimycin A - CO
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Acetyl - CoA carboxylase (ACC)
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

19. What are the results of pancreatic insuff in CF
Malabsorption and steatorrhea (ADEK)
Pyruvate - NAD+ - CoA
Malonyl coa
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

20. Type III collagen
Oxidizes substrate
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

21. What is locus heterogeneity and give an example
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Free ribosomes
Glutamine PRPP amidotransferase
Autosomal recessive diseases

22. What substance inside the cell serves to oxidize glutatione
RNA poly II
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Peroxide

23. What are the 4 assumption of the Hardy Weinberg law
VLDL
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Result from phagocytic removal of heinz bodies my macs - G6PD def

24. What is maternal PKU
2 -4 DNP - aspirin
Fed
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

25. In a 1000 meter run - Where does energy come from
Same as sprint + OXPHOS
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
Epithelial cells
RNA

26. 1 g of protein or cabrohydrate = ?kcal
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
Neurons
Four
Type II

27. What does hepatic TG lipase do
Degradation of TG remaining in IDL
2 -4 DNP - aspirin
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Avidin

28. What are the functinos of vitamin A
Rb and p53
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Von hippel lindau - 3
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

29. Infection with what organism can cause B12 def
Diphyllobothrium latum
B-100 - CII and E
Tyrosine
Arginine

30. What metabolic rxns occur in both the cytoplasm and mitochondria
Avidin
Tryptophan
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Cytosol

31. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
FAP
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
Oxidizes substrate

32. bilateral acoustic schwannomas - juvenile cataracts
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
NF2 on chromosome 22
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Arg - lys - his - arg is most basic - has has no charge at body pH

33. What kind of RNA is transported out of the nucleus
Accelearted muscle breakdown
LDL
Neurons
Only processed RNA

34. What shuttle is used in fatty acid degredation and What does it move and From where to where
By inhibiting formation of the initiation complex and cause misreading of mRNA
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Carnitine shuttle - acyl - coa from cyto to mito
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

35. ADPKD is associated with What additional conditions
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Hereditary spherocytosis
Proline and lysine - vit C

36. What are the complications/signs of familial hypercholesterolemia
Dec DNA - dec lymphos leads to SCID
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Poly A polymerase - signal is AAUAA
Removal of N or C termal propeptides from zymogens to generate mature proteins

37. What is dominant negative mutation and give an example
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
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
Deamination
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

38. central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Polyneuritis - symmetrical muscle wasting
9+2 arrangement of microtubules

39. What does the addition of mannose -6 phosphate do
Alpha 1 -4 glucosidase
Two
Targets the proteins for lysosome
O- oligosaccharaides

40. Describe robertsonian translocation
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Alanine
Marfans

41. What does the primary transcript combine with to form the spliceosome
Sulfation
Fructose 1 -6 bisphosphate
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
SnRNPs and other proteins

42. What does pancreatic lipase do
Degredation of dietary TG in small intestine
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
HDL

43. How many nucTIDEs is a tRNA and What does the secondary sturcture form
X linked frame shif mutation
75 to 90 - cloverleaf
Neg to pos
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

44. What substance inside the cell reduces glutatione
NADPH
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Von hippel lindau - 3
Glycogen phosphorylase

45. What is the energy source for tRNA actication (charging)
Exercise: inc NAD/NADH - inc ADP - inc Ca
9+2 arrangement of microtubules
Not all individuals with a mutant genotype show the mutant phenotype
ATP

46. What activates the pyruvate dehydrogenase complex
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Exercise: inc NAD/NADH - inc ADP - inc Ca
Malapsorption syndromes like sprue or CF or mineral oil intake
Terminal regions - tropocollagen

47. What chromosome is the NF gene on...
17 - 17 letters in von Recklinghausen
5' to 3'
Peroxide
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

48. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Glycogenolysis to form glucose
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
Microtubules

49. What makes up a nucleotide

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50. FAP is due to deletion On what gene On what chromosome
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Rotenone - CN- - antimycin A - CO
APC on chromosome 5
Isocitrate dehydrogenase

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Biochemistry

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