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Biochemistry

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1. What rxn does propionyl - CoA carboxylase catalyze
TRNA
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
VMA
Elastase - inhibited by alpha1 antitrypsin

2. Where is PEP carboxykinase found - What does it do - and What does it require
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Neural tube
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Changed AA (convservative - new AA is similar in chemical structure)

3. 90% of ADPKD cases are due to a mutation In what gene
Unwinds DNA template at replcation fork
Inc glucagon - inc cAMP - inc PKA
APKD1 on chromosome 16
Base + ribose

4. What makes up a nucleotide

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5. In what cells do the respiratory burst occur
ADPKD
PMNs
5' to 3'
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

6. What does a phosphatase do
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Removes phosphate group from substrate
Muscle

7. Mild Hurlurs + aggressive behavior no corneal clouding
Glycine
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Paclitaxel
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

8. How do stable (quiescent) cells grow and regenerate and What are examples
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
PFK - rate limiting enzyme
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
B100

9. Pts with albinism are at inc risk For what cancer
Acetyl - CoA
Skin
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

10. What does lactase deficiency cause
Creat a nick in the helix to relieave supercoils created during replication
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Glucose 6 phosphatase
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

11. What happens in the first stage of collagen synthesis - and Where does it happen
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
BOne
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

12. What is mosaicism and give an example
Wrinkles and acne
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
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
G6PD

13. What substance inside the cell reduces glutatione
Eu - methionine - pro - formyl - methionine
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
NADPH

14. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Catabolic processes to carry reducing equivalents away as NADH
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Sucrose = glucose + fructose - lactose = glucose + galactose

15. What substances inhibit phosphofructokinase -1
Epithelial cells
Intermediate filaments
Methionine encode by only 1 codon (AUG)
ATP - citrate

16. What is the TX for pyruvate dehydrogenase deficiency
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Cri du chat
Met - val - arg his
More than 1 codon may code for the same amino acid

17. What is the defect in fructose intolerance and What does it cause
Alanine
Tropoelastin with fibrillin scafolding
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

18. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Glycine
P+q = 1
Wobble

19. What is the RDE of fatty acid oxidation
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
CAG
RNA poly II
Carnitine acyltransferase I

20. 1 g of protein or cabrohydrate = ?kcal
Purines= A - G pyrimidine = C - T (U)
Myeloperoxidase
Four
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

21. I g fat = ? Kcal
Phosphorylation - glycosylation - hydroxylation
Nine
Glycolysis and aerobic respiration
ATP hyrdolysis couple to energetically unfavorable rxns

22. What does hepatic TG lipase do
Site of steroid synthesis and detoxification of drugs and poisons
Degradation of TG remaining in IDL
Malapsorption syndromes like sprue or CF or mineral oil intake
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

23. What is the RDE of ketogenesis
Post to neg
Consesus sequenec of base pairs
Acetyl - CoA
HMG- CoA synthase

24. Where is glucokinase found - What are the Km and Vmax - and what induces it
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Cofactor for LPL
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

25. What enzyme converts glucose 1 p to UDP glucose
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
UDP glucose pyrophosphorylase
Flagella - cilia - mitotic spindles

26. NADPH are used In what 4 things
Scrutinizes - hydrolyzes the bond
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
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

27. What is the breakdown product of dopamine
Removal of N or C termal propeptides from zymogens to generate mature proteins
Alpha and beta tubulin - dimers have two GTP bound
HVA
Not all individuals with a mutant genotype show the mutant phenotype

28. What are the glucogenic essential amino acids
Seals.
Cyclin dependent kinases;constitutive and inactive
Met - val - arg his
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

29. What metabolic rxns occur in the cytoplasm
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
II - VII - IX - X (1972) protein C and S
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

30. What part of the pre mRNA contains the actual genetic information coding for protein
Disease
Exons
Krabbes - galactocerebrosidase - galactocerebroside - AR
Von Gierke's - Pompe - Cori - McArdle

31. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Attachment of ubiquitin to defective proteins tag them for breakdown

32. What is the prevalence of an X- linked recessive disease in males and in females
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Q -
Acetyl - CoA

33. What is the Name and fxn of vit B5
Rotenone - CN- - antimycin A - CO
Heterochromatin = HighlyCondensed
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

34. What is the activated carrier for aldehyddes
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Vincritsine/vinblastine
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
TTP

35. How do you diagnose CFTR
Phenylalanine hydroxylase
Lactate
Inc Cl - in sweat
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

36. Which are the basic amino acids
CTG
Arg - lys - his - arg is most basic - has has no charge at body pH
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Glycine - aspartate - glutamine

37. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
17 - 17 letters in von Recklinghausen
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Oxidative and nonoxidative - no ATP produced or used
Dermatitis - enteritis - alopecia - adrenal insuff

38. RNA poly can't proofread - but What can it do
Glutamate
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Myeloperoxidase
Initiate chains

39. What shuttle is used in fatty acid degredation and What does it move and From where to where
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Acetyl - CoA to malonyl - CoA (2C to 3C)
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
Carnitine shuttle - acyl - coa from cyto to mito

40. What is the rate determining enzyme (RDE) of glycolysis
Transmitted only through mother - all offspring of affected females may show signs of disease
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Muscle
Phosphofructokinase 1

41. What 3 syndromes are associated with vit B1 def
SAM
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Wernicke - korsakoff - dry and wet beriberi

42. What apolipoproteins are on IDL
17 - 17 letters in von Recklinghausen
B100 and E
Fed
Inc melt - dec fluidity

43. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Specific glycosylases - AP endonuclease
Debranching enzyme

44. What shape does the RNA generate during splicing and why?
Lariat shape in order and remove intron precisely and join 2 exons
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
ATP - citrate
Degredation of TG circulating in chylomicrons and VLDLs

45. What does desmin stain for
Acetyl - CoA carboxylase (ACC)
LDL
Muscle
Only processed RNA

46. What components come together to make S- adenosyl methionine
Ribose 5- P to PRPP
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
ATP and methionine

47. Which anticancer drugs work on microtubules
Mucus secreting globlet cells and antibody secreting plasma cells
Vincritsine/vinblastine
Lariat shape in order and remove intron precisely and join 2 exons
Polycystic liver disease - berry aneurysm - mitral valve prolapse

48. What enzyme adds Cl - to the H202 to makes bleach
Myeloperoxidase
DTMP
Post to neg
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles

49. In a 1000 meter run - Where does energy come from
HVA
Same as sprint + OXPHOS
Acetoacetate and beta hydroxybutyrate
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

50. What is the activated carrier for Co2
Biotin
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Poly A polymerase - signal is AAUAA
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

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Biochemistry

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