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Biochemistry

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1. caf
Neurofibromatosis type 1 (von Recklinghausens disease)
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
II - VII - IX - X (1972) protein C and S
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

2. How do aminoglycosides work
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
By inhibiting formation of the initiation complex and cause misreading of mRNA
P+q = 1

3. What is the result of vit B5 def
Mediates chylomicron secretion
Glutamate
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Dermatitis - enteritis - alopecia - adrenal insuff

4. How do cardia glycosides work
Promotor - TATA box - and CAAT box - AT rich
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
VLDL
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

5. What converts NE to epi
2 rings
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Phenylethamolamine N methyl transferase
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

6. What does helicase do
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
Essential fructosuria - fructokinase AR
Mediates chylomicron secretion
Unwinds DNA template at replcation fork

7. How does OTC def present
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
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
The triphosphate bond
CFTR gene - 7 - Phe 508

8. What substance accumulates in galactokinase def and What is the clinical picture
ADPKD
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Lysine and arginine
Glucose 6 phosphatase

9. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Hereditary spherocytosis
Liver - also in kidney and gut epithelium
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
Peroxide

10. What is the amino acid precursor for catecholamines
Removal of N or C termal propeptides from zymogens to generate mature proteins
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
No - its non homologous
Phenylalanine

11. What does desmin stain for
Muscle
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
F16BP
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

12. What is mosaicism and give an example
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
DTMP
B100 and E
Williams syndrome

13. How do tetracyclines work
Ile - phe - thr - trp
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Rotenone - CN- - antimycin A - CO

14. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Enhancers
Type II
Dopamine beta hydroxylase
P2 +2pq+ = 1

15. What does degenerate/rundant genetic code refer to...
More than 1 codon may code for the same amino acid
Orotic acid to UMP
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

16. What does SAM do
EtOH dehydrogenase and acetaldehyde dehydrogenase
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)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Transfers methyl units

17. What is Retin A used topically for
Wrinkles and acne
Result from phagocytic removal of heinz bodies my macs - G6PD def
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Procollagen - triple helix of 3 alpha collagen chains

18. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Changed AA (convservative - new AA is similar in chemical structure)
Inc insulin - dec cAMP - dec PKA
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Cytosol

19. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
NAD+
Orotic acid to UMP
PMNs
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

20. What enzyme results in classic galactosemia and What is the clinical
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
P2 +2pq+ = 1
Chylomicrons

21. Type IV BM
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Coenzyme A - lipoamide
4 under the floor
APRT + PRPP

22. What does Alports syndrome cause and why
Core proteins
Mitochondria
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Phenylalanine

23. What form of amino acids are found in proteins
L form
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Seals.
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

24. recurrent pulmonary infxns in CF are due to what organisms
ATP and alanine
Ile - phe - thr - trp
APRT + PRPP
Pseudomonas and s aureus

25. What is the amino acid precuros for niacin and serotonin/melatonin
Tryptophan
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Mitochondria
PCR - denaturation - annealing - elongation

26. What metabolic rxns occur in both the cytoplasm and mitochondria
O- oligosaccharaides
Infection - free radicals generated by inflammatory response
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Modifies N- oligosaccharides

27. in a 100 meter sprint Where does energy come from
Stored ATP - creatine phosphate - anaerobic glycolysis
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
African Americans and Asians
Accelearted muscle breakdown

28. What are the symptoms of vit A def
Cartilage - hyaline - vitreous body - nucleus pulposus
Night blindness - dry skin
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
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B

29. Which enzyme involved in RNA synthesis does not require a template
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Inc melt - dec fluidity
Poly A polymerase - signal is AAUAA
Thymic - parathyroid and cardiac

30. In which direction is protein synthesized
Vincritsine/vinblastine
Dermatitis - alopecia - enteritis
N to C
Oral uridine administration

31. What does biotin def cause
Dermatitis - alopecia - enteritis
Adds an inorganic phosphate onto substrate without using ATP
Palate - facial and cardiac defects
CGG

32. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Exons
Base + ribose
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

33. What is the RDE of fatty acid oxidation
Heterochromatin = HighlyCondensed
Glycine
Carnitine acyltransferase I
DNA

34. Why enzyme breaks down elastin and what enzyme inhibits it
Two
Elastase - inhibited by alpha1 antitrypsin
Glycogen synthase
Tryptophan

35. Which antihelminthe drugs work on microtubules
Neural tube
Mebendazole/thiabendazole
DTMP
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

36. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Rb and p53
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

37. In what cell is collagen synthesis initiated
Thymic - parathyroid and cardiac
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Fibroblast
TRNA

38. What causes maple syrup urine disease and What does it lead to...
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
Nonsense > missense > silent
Dec DNA - dec lymphos leads to SCID
Hereditary spherocytosis

39. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
DTMP
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
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
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

40. What is the RDE of glycogen synthesis
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Schilling test
Glycogen synthase
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

41. What is anticipation and give an example
Dermatitis - glossitis - and diarrhea
Leu - lys
Carbomoyl phosphate synthetase I
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

42. What two amino acids are required druing periods of growth and why
Inc vit B6
Williams syndrome
Isocitrate dehydrogenase
Arg and his inc in histones Which bind negatively charged DNA

43. What do DNA topoisomerases do
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Creat a nick in the helix to relieave supercoils created during replication
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Acetyl - CoA to malonyl - CoA (2C to 3C)

44. What is imprinting and give an example

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45. How many rings do purines have
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
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
2 rings
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

46. In what direction are DNA and RNA synthesized

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47. What does the ELISA test for
Liver - also in kidney and gut epithelium
Wernicke - korsakoff - dry and wet beriberi
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

48. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Inc glucagon - inc cAMP - inc PKA
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Cytosol

49. How is ATP used by the cell
IMP precursor
Inhibits RNA polymerase II - found in death cap mushrooms
Debranching enzyme
ATP hyrdolysis couple to energetically unfavorable rxns

50. What converts dopamine to NE
Dopamine beta hydroxylase
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
GAA
Pyruvate - NAD+ - CoA

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Biochemistry

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