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Biochemistry

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1. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
HDL
32 - malate aspartate shuttle
Polyneuritis - symmetrical muscle wasting
Sucrose = glucose + fructose - lactose = glucose + galactose

2. What two rxns in in glycolysis require ATP
RNA
Modifies N- oligosaccharides
30 - glycerol -3- phosphate shuttle
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

3. How are the many staggered tropocollagen molecules reinforced
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Paclitaxel
Rotenone - CN- - antimycin A - CO
Tropoelastin with fibrillin scafolding

4. What produces NADPH
Tyrosine
AR
HMP shunt
Base + ribose

5. Synthesis of vit B3 requires what other vitamin
B6
Abnormal protein folding - degradation before reaching cell surface
Histidine
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

6. pyruvate carboxylase catalyzes what rxn
Rotenone - CN- - antimycin A - CO
Paclitaxel
Collagen
Pyruvate to oxaloacetate (3C to 4C)

7. What is the RDE of gluconeogenesis
ATP - citrate
2pq
Degradation of TG remaining in IDL
Fructose 1 -6 bisphosphate

8. What tissues have only aldose reductase
Schwann cells - lens - retina - kidneys
VMA
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Leu - lys

9. What happens in carnitine def
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
They yield only acetyl - CoA equivalents
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

10. What are the two possible causes of albinism
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Protein kinase A
Antioxidant - protects RBCs and membrances from free radical damage

11. Type III collagen
Phenylketones in urine
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Adenosine to inosine

12. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
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 insulin - dec cAMP - dec PKA
Adds 2 carbon with the help of biotin
Terminal regions - tropocollagen

13. What metabolic rxns occur in the mitochondria
Abnormal protein folding - degradation before reaching cell surface
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Neural tube
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

14. Broadly - What can cause fat - soluble vitamin deficiencies
Schilling test
Dopamine beta hydroxylase
SnRNPs
Malapsorption syndromes like sprue or CF or mineral oil intake

15. Where is vit A found in the diet
Liver and leafy veggies
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

16. What is the Hardy Weinberg disease prevalence equation
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Zero
P2 +2pq+ = 1

17. When does aspartate enter the urea cycle
Makes RNA primer on which DNA poly III can initiate replication
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
After citruline
Dopa decarboxylase

18. What is I cell disease
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Seals.
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

19. What are the 4 assumption of the Hardy Weinberg law
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Blood - bone marrown - amniotic fluid - placental tissue
30 - glycerol -3- phosphate shuttle
Eu - methionine - pro - formyl - methionine

20. What enzyme adds Cl - to the H202 to makes bleach
Four
Myeloperoxidase
ATP hyrdolysis couple to energetically unfavorable rxns
Proton gradient

21. What are the function of vit C
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
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
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

22. Where do you find elastin and What does it do
Poly A polymerase - signal is AAUAA
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Inc melt - dec fluidity
UGA - UAA and UAG

23. What is the hardy weinberg allele prevalence
Dec DNA - dec lymphos leads to SCID
Alkaptonuria - may have debiliating arthralgias
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
P+q = 1

24. What is uniparental disomy
Wernicke - korsakoff - dry and wet beriberi
Assistance of upper extremities to stand up
NF2 on chromosome 22
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

25. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Conversion of NE to epi
MRNA - tRNA
Kidney - ears - eyes
Ribos first then deoxyribos with ribonucleotide reductase

26. What does lipoprotein lipase do
Degredation of TG circulating in chylomicrons and VLDLs
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Cytosol

27. What does fomepizole do
Glucose 6 phosphate dehydrogenase (G6PD)
2pq
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Abnormal protein folding - degradation before reaching cell surface

28. What happens with dry beriberi
Neurofibromatosis type 1 (von Recklinghausens disease)
Polyneuritis - symmetrical muscle wasting
Chylomicrons
Oxalacetate

29. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
32 - malate aspartate shuttle
The triphosphate bond

30. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Neural tube
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Ribose 5- P to PRPP
GAA

31. What are the characteristics of angelmans syndrome and How does it occur
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Inhibits the Na/K pump by binding the K side
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

32. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Familial hypercholesterolemia - hyperlipidemia type IIA
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Lacks glucose 6 phophatase

33. What inhibits the carnitine shuttle
Malonyl coa
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Inhibits the Na/K pump by binding the K side
RRNA

34. What is heteroplasmy
Mediates extra remnant take up
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

35. What is pleiotropy and given an example
Inhibit DNA gyrase specific for prokaryotic topoisomerase
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Microtubules
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

36. What causes Edwards syndrome and What is it
IDL
Orotic acid to UMP
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
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year

37. What does PURe As Gold and CUT The Py stand for
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Disease
Purines= A - G pyrimidine = C - T (U)
HMG- CoA synthase

38. What happens with wet beriberi
Tropoelastin with fibrillin scafolding
High output cardiac failure - dilated cardiomyopathy - edema
Met - val - arg his
HDL

39. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
CFTR gene - 7 - Phe 508
Nonsense > missense > silent

40. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
MEN - 2A and 2B with ret gene
Hypoglycemia
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

41. What ribosomes do prokaryotes have
Mcardle's - skeletal muscle glycogen posphorylase
Euchromatin
30 - 50 - 70
HMG- CoA synthase

42. characterize x linked dominant
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
B12 and folate
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

43. What is the rate limiting enzyme in cholesterol synthesis
Glutamate
BOne
Oxalacetate
HMG- CoA (HMG- CoA to mevalonate

44. What test is used for B12 def
Arginine
Schilling test
Leu - lys
Inc Cl - in sweat

45. RNA poly can't proofread - but What can it do
Inhibits the Na/K pump by binding the K side
Acetoacetate and beta hydroxybutyrate
Initiate chains
ATP - citrate

46. Acetyl - CoA carboxylase catalyzes what rxn
Base + ribose
Acetyl - CoA to malonyl - CoA (2C to 3C)
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Nature and severity of phenotype vary from 1 individual to another - NF type 1

47. What substance accumulates in galactokinase def and What is the clinical picture
APC on chromosome 5
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
CAG
RNA poly II

48. Which carbon bears the triphosphate and the energy source for bond formation

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49. What happens in elongation of protein synthesis

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50. What is NADPH's role inside RBCs
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Keep glutathione reduced so it can detoxify free radicals and peroxides
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Base + ribose + phosphate (3' -5') phosphodiester bond

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Biochemistry

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