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Biochemistry

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1. What enzyme becomes essential in PKU
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Tyrosine
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

2. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Acetly- CoA - CO2 - NADH
Euchromatin
Flank pain - hematuria - HTN - progressive renal failure
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

3. what disease can cause pellagra
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Keep glutathione reduced so it can detoxify free radicals and peroxides
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

4. Type III collagen
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Ile - phe - thr - trp
Chylomicrons

5. Describe robertsonian translocation
NADPH
Glycogen phosphorylase
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
MRNA

6. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Targets the proteins for lysosome
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Intermediate filaments

7. How does ouabain work
AR
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
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Inhibits the Na/K pump by binding the K side

8. FAP is due to deletion On what gene On what chromosome
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
APC on chromosome 5
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
PMNs

9. What is the TX for CF and What does it do
Accelearted muscle breakdown
Elastase - inhibited by alpha1 antitrypsin
Oxidative is irreversible
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

10. What substances inhibit phosphofructokinase -1
Alpha and beta tubulin - dimers have two GTP bound
ATP - citrate
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
After citruline

11. What collagen type is most frequently affected in ehlers danlos and What are common complications
Rb and p53
III - joint dislocation - anuerysms - organ rupture
Locus heterogeneity - ocular albinism is x- linked recessive
Hereditary spherocytosis

12. How many rings do pyrimidines have
Carbomoyl phosphate synthetase I
Unwinds DNA template at replcation fork
1 ring
Removal of N or C termal propeptides from zymogens to generate mature proteins

13. What neuroanatomical strutures are injured in wernicke - korsakoff
Medial dorsal nucleus of thalamus - mamillary bodies
CGG
Achondroplasia
NADH - NADPH - FADH2

14. What is the composition of urea and where do each part derive from
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Protein kinase A
Proline and glycine (non glycosylated forms)
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

15. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Diphyllobothrium latum
Inc vit B6
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
DTMP

16. What happens do glycogen in skeletal muscle during exercise
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Glycogenolysis to form glucose
HMG- CoA synthase

17. What is the RDE of cholesterol synthesis
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
HMG- CoA reductase
Glucose -6 phosphate
Two

18. What is the activated carrier for aldehyddes
Debranching enzyme
TTP
Tyrosine
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

19. What happens in hyperammonemia
Alpha and beta tubulin - dimers have two GTP bound
Fasting
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

20. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
LDL
Karyotyping

21. Type IV collagen
Ca/calmodulin in muscle to coordinate with muscle activity
Basement membrane or basal lamina
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Malonyl coa

22. What rxn creates ATP
Must be both activated and inactivated for cell cycle to progress
2 -4 DNP - aspirin
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Cleft palate - cardiac abnl - pregs test

23. What metabolic rxns occur in the cytoplasm
Chylomicrons
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
CarTWOlage
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

24. What does hepatic TG lipase do
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Degradation of TG remaining in IDL
PCR - denaturation - annealing - elongation
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

25. Which aspect of the spliceosome do patients with lupus make antibodies against
Von Gierke's - Pompe - Cori - McArdle
SnRNPs
Deamination
Glycolysis and aerobic respiration

26. What do DNA topoisomerases do
Glutamate
Males are infertile due to bilateral absence of vas deferens
Neurons
Creat a nick in the helix to relieave supercoils created during replication

27. What defects characterize velocardiofacial syndrome
Palate - facial and cardiac defects
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Inc vit B6
Methionine encode by only 1 codon (AUG)

28. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
N to C
Scrutinizes - hydrolyzes the bond
Blood - bone marrown - amniotic fluid - placental tissue
Mcardle's - skeletal muscle glycogen posphorylase

29. What is the smallest mutation a mircoarray can detect
SNP
Fasting
B100
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

30. What is the function of folic acid
ADPKD
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Oxidized hemoglobin precipiated within RBCs

31. What are the mRNA stop codons
Read from a fixed starting point as a continuous sequence of bases
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
UGA - UAA and UAG

32. What catacholamine step is SAM required for
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Conversion of NE to epi

33. What is incomplete penetrence and give an example
B48 - AIV - CII - E
Not all individuals with a mutant genotype show the mutant phenotype
40 - 60 - 80
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

34. What substances are uncouling agents
2 -4 DNP - aspirin
Phosphorylation - glycosylation - hydroxylation
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

35. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Wernicke - korsakoff - dry and wet beriberi
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
ATP and methionine
Inc melt - dec fluidity

36. 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
After citruline
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Williams syndrome
Exercise: inc NAD/NADH - inc ADP - inc Ca

37. What tissues have both enzymes of sorbitol metabolism
Liver - ovaries - seminal vesicles
Glycogen and FFA oxidation; glucose conserved for final sprinting
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Disorder of aromatic amino acid metabolism

38. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
MRNA - tRNA
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Neg to pos

39. What step of uric acid synthesis does xanthine oxidase catalyze
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Nine
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Hypoxanthine to xanthing and xanthine to uric acid

40. What does DNA poly I do?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Covalent cross - linking by lysyl oxidase to make collagen fibrils
CGG
Tryptophan

41. What does a phosphorylase do
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Adds an inorganic phosphate onto substrate without using ATP
Microtubules

42. How do macrolides and clindamycin work
Binds 50S - blocking translocation
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
HGPRT - defective purine salvage - excess uric acid production
Glycogenolysis to form glucose

43. What does Citrate Is Krebs starting substrate for making oxaloacetate
Arg and his inc in histones Which bind negatively charged DNA
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
30 - 50 - 70
Seals.

44. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
30 - glycerol -3- phosphate shuttle
Microarrays
Neuralgia
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

45. How does warfarin work
After day 1
Tropoelastin with fibrillin scafolding
Paclitaxel
Vit K antagonist

46. Why can't even chain fatty acids produce new glucose
They yield only acetyl - CoA equivalents
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Lariat shape in order and remove intron precisely and join 2 exons
Histidine

47. bilateral acoustic schwannomas - juvenile cataracts
NF2 on chromosome 22
Mucus secreting globlet cells and antibody secreting plasma cells
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Inc insulin - dec cAMP - dec PKA

48. What is the RDE of TCA cycle
Vincritsine/vinblastine
Isocitrate dehydrogenase
Karyotyping
Tryosine hydroxylase

49. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
Intermediate filaments
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
In ER - glucose 6- P to glucose

50. What does a decrease in decrease in NADPH lead to and why
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Disease
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

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Biochemistry

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