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Biochemistry

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1. What is the active form of vit D
Glutamine PRPP amidotransferase
Oxidized hemoglobin precipiated within RBCs
1 -25 OH2 D3 = calcitriol
Cyclin dependent kinases;constitutive and inactive

2. Type III collagen
Neuralgia
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Euchromatin
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

3. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Microtubules
Malonyl coa
Von hippel lindau - 3
Medial dorsal nucleus of thalamus - mamillary bodies

4. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Pyruvate to oxaloacetate (3C to 4C)
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Mebendazole/thiabendazole
Procollagen - triple helix of 3 alpha collagen chains

5. What is the origin of replication
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Particular sequence of DNA where replicatino begins - may be single of multiple
Glucose 6 phosphatase
Hypoxanthine to xanthing and xanthine to uric acid

6. What converts NE to epi
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Phenylethamolamine N methyl transferase
ATP hyrdolysis couple to energetically unfavorable rxns
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

7. What does DNA poly I do?
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Phenytoin - MTX - and sulfonamides
Rotenone - CN- - antimycin A - CO

8. protein malnutrition resulting in skin lesions - edema and liver malfxn
Kwashiorkor - small child with swollen belly
HMP shunt
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Debranching enzyme

9. Who typically has lactase def
Attachment of ubiquitin to defective proteins tag them for breakdown
SnRNPs
African Americans and Asians
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

10. characterize x linked dominant
Von Gierke's - Pompe - Cori - McArdle
RNA poly II
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

11. What is linkage disequilibrium
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Protein
Huntingtons
UGA - UAA and UAG

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

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13. How many ATP are produced by anearobic glycolysis per molecule of glucose
Two
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Oxalacetate
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

14. what disease can cause pellagra
APRT + PRPP
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
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

15. What is the treatment for orotic aciduria
Infection - free radicals generated by inflammatory response
Glucose 6 phosphate dehydrogenase (G6PD)
Oral uridine administration
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

16. What does the ELISA test for
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Polyneuritis - symmetrical muscle wasting
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Microtubules

17. Where is glucokinase found - What are the Km and Vmax - and what induces it
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Skin
ATP and methionine
African Americans and Asians

18. What does the deletion of the dystrophin gene lead to...
ATP hyrdolysis couple to energetically unfavorable rxns
Accelearted muscle breakdown
Prevent strands from reannealing
Failure to track objects or develop a social smile

19. What does glycosylation of pro alpha chian yield and What is the structure
Cre - lox system
Lysine and leucine
Histidine
Procollagen - triple helix of 3 alpha collagen chains

20. What tissues have only aldose reductase
Flank pain - hematuria - HTN - progressive renal failure
Transmitted only through mother - all offspring of affected females may show signs of disease
Schwann cells - lens - retina - kidneys
17 - 17 letters in von Recklinghausen

21. What are the clinical features of I cell diesase
Neurons
Not all individuals with a mutant genotype show the mutant phenotype
Biotin
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

22. What happens in carnitine def
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
Inc vit B6
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

23. What does PURe As Gold and CUT The Py stand for
DTMP
Glycine - aspartate - glutamine
Purines= A - G pyrimidine = C - T (U)
Flagella - cilia - mitotic spindles

24. What happens in a B12 def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Glucose 6 phosphate dehydrogenase (G6PD)
Carbomoyl phosphate synthetase II

25. How does ouabain work
Degradation of TG remaining in IDL
Consesus sequenec of base pairs
Inhibits the Na/K pump by binding the K side
APC on chromosome 5

26. What metabolic rxns occur in the cytoplasm
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Phenylketones in urine
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Removes phosphate group from substrate

27. bilateral acoustic schwannomas - juvenile cataracts
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Autosomal recessive diseases
NF2 on chromosome 22
Inc glucagon - inc cAMP - inc PKA

28. What is the RDE of the HMP shunt
No
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Removes phosphate group from substrate
Glucose 6 phosphate dehydrogenase (G6PD)

29. What are the reactants for glycolysis
Glucose - 2Pi - 2ADP - 2NAD+
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
III - joint dislocation - anuerysms - organ rupture
Flank pain - hematuria - HTN - progressive renal failure

30. What happens to glycogen in the liver
Nine
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Euchromatin
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

31. What is the breakdown product of NE
Inc dicarboxylic acids - dec in glucose and ketones
Neither of 2 alleles is dominant - blood groups
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
VMA

32. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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33. What are the glucogenic essential amino acids
Met - val - arg his
Von Gierke's - Pompe - Cori - McArdle
Inc vit B6
Initiate chains

34. What liberates glucose from glucose 6 P
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
PCR - denaturation - annealing - elongation
Glucose 6 phosphatase
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

35. Which anti breast cancer drugs work on micortubules
Procollagen - triple helix of 3 alpha collagen chains
SNP
Paclitaxel
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

36. What is the most common urea cycle disorder and What is the mode of inheritance?
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Arg and his inc in histones Which bind negatively charged DNA
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
3' end (with CCA)

37. What happens to oxaloacetate in alcholism
4 under the floor
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
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
Degredation of TG circulating in chylomicrons and VLDLs

38. What is the RDE of TCA cycle
Isocitrate dehydrogenase
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
HDL

39. In eukaryotes - What does RNA poly I make
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
Carnitine acyltransferase I
RRNA

40. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Marfans
Vit K antagonist
Alpha - ketoglutarate dehydrogenase complex
Paclitaxel

41. How does abetalipoproteinemia present and What is the defect
THFs
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Pseudomonas and s aureus
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

42. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
IDL
Neuralgia
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Inhibit DNA gyrase specific for prokaryotic topoisomerase

43. Which anticancer drugs work on microtubules
Vincritsine/vinblastine
Glycine
Nature and severity of phenotype vary from 1 individual to another - NF type 1
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

44. Which anti gout drugs work on microtubules
Marasmus - muscle wasting
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Colchicine

45. What enzyme converts phenylalanine to tyrosin
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Phenylalanine hydroxylase
Glucose - 2Pi - 2ADP - 2NAD+
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin

46. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Ca/calmodulin in muscle to coordinate with muscle activity
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
P+q = 1

47. What causes Hartnup's disease
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
SnRNPs

48. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

49. What are the characteristics of prader willi syndrome How does it occur
Sucrose = glucose + fructose - lactose = glucose + galactose
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Rotenone - CN- - antimycin A - CO

50. What substance in egg whites binds biotin
Malonyl coa
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Avidin
Thymic - parathyroid and cardiac

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Biochemistry

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