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Biochemistry

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1. What is the Name and fxn of vit B12
Glucose 6 phosphatase
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
VMA
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

2. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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3. What 3 amino acids are necessary for purine synthesis
Carnitine acyltransferase I
Glycine - aspartate - glutamine
Degredation of TG circulating in chylomicrons and VLDLs
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

4. What is the function and name of vit B6
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
Glutamine PRPP amidotransferase
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Ribose 5- P to PRPP

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

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6. What is the activated carrier for methyl groups
Sulfation
Phenytoin - MTX - and sulfonamides
SAM
Robertsonian translocation and mosaicism

7. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Consesus sequenec of base pairs
OTC has hyperammonemia - orotic aciduira does not
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

8. What amino acid makes up most of the octamer
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Lysine and arginine
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
PCR - denaturation - annealing - elongation

9. What causes biotin def
Binds to LDL receptor - mediates VLDL secretion
Myeloperoxidase
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Antibiotic use or excessive ingestion of raw eggs

10. What drugs can cause folate def
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Wobble
P+q = 1
Phenytoin - MTX - and sulfonamides

11. What does pancreatic lipase do
NADH - NADPH - FADH2
Degredation of dietary TG in small intestine
Inc glucagon - inc cAMP - inc PKA
Inhibit DNA gyrase specific for prokaryotic topoisomerase

12. What does the CFTR channel do in the lungs - GI tract and skin
Active secretion in lungs and GI - reabsorbs in skin
Glycogen phosphorylase
Degredation of TG circulating in chylomicrons and VLDLs
Citrate - acetyl coa from mito to cyto

13. What does the start codon code for in eukaryotes and prokaryotes
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
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
Eu - methionine - pro - formyl - methionine
Pyruvate - NAD+ - CoA

14. What is the treatment for orotic aciduria
Enhancers
Reads usual codon but inserts wrong AA
Pyruvate to oxaloacetate (3C to 4C)
Oral uridine administration

15. How do stable (quiescent) cells grow and regenerate and What are examples
Unwinds DNA template at replcation fork
Von Gierke's - Pompe - Cori - McArdle
Mediates chylomicron secretion
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

16. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Marasmus - muscle wasting

17. decreases In what substances can cause PKU
Fed
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Peroxide
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

18. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
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
Inc vit B6
AR
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

19. characterize autosomal domint inheritance
G6PD
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

20. Fluorescent DNA or RNA probe binds to specific gene of interest - used for specific localization of genes and direct visualization of anomalies - like microdeletions - at molecular level
Targets the proteins for lysosome
SnRNPs and other proteins
Same as sprint + OXPHOS
FISH

21. What two cells are particularly rich in RER
Mucus secreting globlet cells and antibody secreting plasma cells
LCAT (lecithin cholesterol acyltransferase)
Polycystic liver disease - berry aneurysm - mitral valve prolapse
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

22. How many ATP are produced by anearobic glycolysis per molecule of glucose
Two
Pyruvate - NAD+ - CoA
Attachment of ubiquitin to defective proteins tag them for breakdown
Y shaped region along the DNA template where leading nad lagging strands are synthesized

23. Why enzyme breaks down elastin and what enzyme inhibits it
Elastase - inhibited by alpha1 antitrypsin
CGG
Glucose -6 phosphate
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

24. Which anticancer drugs work on microtubules
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Vincritsine/vinblastine
2pq
Failure to track objects or develop a social smile

25. What are the results of CF on male fertility
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Ribos first then deoxyribos with ribonucleotide reductase
Males are infertile due to bilateral absence of vas deferens

26. What causes maple syrup urine disease and What does it lead to...
Failure to track objects or develop a social smile
CGG
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
Stored ATP - creatine phosphate - anaerobic glycolysis

27. 90% of ADPKD cases are due to a mutation In what gene
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Ca/calmodulin in muscle to coordinate with muscle activity
APKD1 on chromosome 16
Actin and myosin

28. What happens in termination of proteins synthesis
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Stop codon is recognized by release factor - and completed protein is released from ribosome

29. What are the two transgenic strategies in mice
Stored ATP - creatine phosphate - anaerobic glycolysis
Defect in fibrillin
Methionine encode by only 1 codon (AUG)
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

30. What is the activated carrier for phosphoryl
ATP
Prevent strands from reannealing
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

31. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
ATP and alanine
Specific glycosylases - AP endonuclease
X linked frame shif mutation
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

32. What two rxns in in glycolysis require ATP
30 - glycerol -3- phosphate shuttle
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Acetly- CoA - CO2 - NADH
Same as sprint + OXPHOS

33. What are the reactants for glycolysis
CGG
Heterochromatin = HighlyCondensed
Glucose - 2Pi - 2ADP - 2NAD+
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

34. trinucleotide repeat fo myotonic dystrophy
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Thymic - parathyroid and cardiac
CTG
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

35. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
THFs
FAP
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

36. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Myeloperoxidase
Alanine
IDL
Mcardle's - skeletal muscle glycogen posphorylase

37. What is the fxn of vit E
Locus heterogeneity - ocular albinism is x- linked recessive
Antioxidant - protects RBCs and membrances from free radical damage
CarTWOlage
TTP

38. What kind of RNA is transported out of the nucleus
Mutated dystrophin gene - less severe - adolescence
Only processed RNA
CG- 3 > AT-2 - More CG content - melting point goes up
Creat a nick in the helix to relieave supercoils created during replication

39. What is the RDE of de novo purine synthesis
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Glutamine PRPP amidotransferase
CG- 3 > AT-2 - More CG content - melting point goes up

40. In what cells do the respiratory burst occur
Nonsense > missense > silent
PMNs
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

41. What does the deletion of the dystrophin gene lead to...
Carnitine acyltransferase I
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Accelearted muscle breakdown
ATP

42. What are the purely ketogenic amino acids
Silencers
The triphosphate bond
Leu - lys
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

43. What does hepatic TG lipase do
4 under the floor
Avidin
Degradation of TG remaining in IDL
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

44. I g fat = ? Kcal
Actin and myosin
Nine
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
1 -25 OH2 D3 = calcitriol

45. What does the golgi add to serine and threonine residues
Comlex II
ATP
O- oligosaccharaides
Males are infertile due to bilateral absence of vas deferens

46. What does apoE do
Degradation of TG stored in adipocytes
Griseofulvin
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Mediates extra remnant take up

47. What does an umabiguous genetic code refer to...
Each codon specifies only 1 amino acid
Assistance of upper extremities to stand up
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
B48 - AIV - CII - E

48. What does acetyl - CoA become before becoming palmitate
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
HGPRT - defective purine salvage - excess uric acid production
Palate - facial and cardiac defects

49. What are the characteristics of prader willi syndrome How does it occur
30 - 50 - 70
Fasting
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Each codon specifies only 1 amino acid

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

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Biochemistry

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