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Biochemistry

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1. What is trimming
High output cardiac failure - dilated cardiomyopathy - edema
Removal of N or C termal propeptides from zymogens to generate mature proteins
Oxidized hemoglobin precipiated within RBCs
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

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. How do tetracyclines work
Promotor - TATA box - and CAAT box - AT rich
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Transmitted only through mother - all offspring of affected females may show signs of disease
Prevent strands from reannealing

4. Which aspect of the spliceosome do patients with lupus make antibodies against
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
SnRNPs
Assistance of upper extremities to stand up

5. In what cells do the respiratory burst occur
PMNs
Protective against malaria
GTP
Neither of 2 alleles is dominant - blood groups

6. In eukaryotes - What does RNA poly III make
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
TRNA
Orotate precursor - with PRPP added later
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

7. FAP is due to deletion On what gene On what chromosome
Tropoelastin with fibrillin scafolding
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
APC on chromosome 5

8. What is the RDE of glycogenolysis
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
UDP glucose pyrophosphorylase
X- linked recessive
Glycogen phosphorylase

9. What happens do glycogen in skeletal muscle during exercise
Glycogenolysis to form glucose
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
One

10. delivers hepatic TGs to peripheral tissue - secreted by liver
VLDL
Inhibits the Na/K pump by binding the K side
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Pyruvate - NAD+ - CoA

11. What is the Name and function of vit B2
Proline and lysine - vit C
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Heterochromatin = HighlyCondensed

12. What does glycosylation of pro alpha chian yield and What is the structure
Reads usual codon but inserts wrong AA
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Procollagen - triple helix of 3 alpha collagen chains

13. What is the amino acid precursor for histamine
HVA
Assistance of upper extremities to stand up
Histidine
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase

14. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
HMG- CoA reductase
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Stored ATP - creatine phosphate - anaerobic glycolysis
Tryosine hydroxylase

15. What is the fxn of vit K
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Glycolysis and aerobic respiration
Neuralgia

16. In which structures do you find microtubules
Glutamate
Flagella - cilia - mitotic spindles
1 -25 OH2 D3 = calcitriol
Oxalacetate

17. What does apoB48 do
Mediates chylomicron secretion
Glucose -6 phosphate
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

18. What are the clinical features of I cell diesase
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
High output cardiac failure - dilated cardiomyopathy - edema
Degradation of TG stored in adipocytes
TTP

19. What is the defect in II A familial hypercholesterolemia
CGG
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Semiconservative - continuous and discontinuous strands (okazaki fragments)
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

20. What is the Name and function of vit B1
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
3' end (with CCA)
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
5' of the incoming nucleotide

21. Why is G6PD def more common among patients of african decent
Histidine
Protective against malaria
Oxidative is irreversible
Cofactor for LPL

22. What does a kinase do
Von Gierke's - Pompe - Cori - McArdle
Uses ATP to add high energy phophate group onto substrate
HMP shunt
L form

23. If two alleles are present - but the active allele is deleted - what happens
Breaks down acyl - coa to acetyl coa groups in mito
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Lacks glucose 6 phophatase
Disease

24. What is regeneration of methionine depedent on...
B12 and folate
MRNA - tRNA
Protein
Pyruvate to oxaloacetate (3C to 4C)

25. congenital microdeletion of short arm of chromosome 5 with microcephaly - moderate to severe mental retardation - high pitched crying/meying - epicanthal folds - cardiac abnl
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Cri du chat
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Pyruvate - NAD+ - CoA

26. What does degenerate/rundant genetic code refer to...
Facial flushing
Lariat shape in order and remove intron precisely and join 2 exons
More than 1 codon may code for the same amino acid
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

27. What causes Marfan syndrome
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
NADH - NADPH - FADH2
HMG- CoA synthase
Defect in fibrillin

28. What do the single stranded binding proteins do
Prevent strands from reannealing
Carnitine acyltransferase I
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
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

29. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Oxalacetate
Tryptophan

30. What does fomepizole do
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Arginine

31. Type IV BM
SAM
N to C
Nine
4 under the floor

32. What are the characteristics of angelmans syndrome and How does it occur
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Nonsense > missense > silent
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

33. Where is glucose 6 phosphatase found and What does it do
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
In ER - glucose 6- P to glucose
PFK - rate limiting enzyme
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

34. Describe the replication fork
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
High output cardiac failure - dilated cardiomyopathy - edema
Y shaped region along the DNA template where leading nad lagging strands are synthesized
MRNA

35. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Autosomal recessive diseases
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Core proteins
Degredation of TG circulating in chylomicrons and VLDLs

36. What substances directly inhibit electron transport chain
Blood - bone marrown - amniotic fluid - placental tissue
APRT + PRPP
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Rotenone - CN- - antimycin A - CO

37. How do permanent cells grow and regenerate and What are examples of permanent cells
5' to 3'
Dopamine beta hydroxylase
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

38. What is the activated carrier for 1 carbon units
THFs
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
Glutamate
LCAT (lecithin cholesterol acyltransferase)

39. What does PURe As Gold and CUT The Py stand for
Purines= A - G pyrimidine = C - T (U)
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
Degredation of dietary TG in small intestine
Pyruvate - NAD+ - CoA

40. In base excision repaire - what recognizes and removes damaged bases and what cuts the DNA to remove the empty sugar
Specific glycosylases - AP endonuclease
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Acetly- CoA - CO2 - NADH

41. What is the most abundant type of RNA
Oxidative is irreversible
RRNA
F16BP
Peroxide

42. What can vit B3 be used to treat
Hyperlipidemia
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
2pq

43. What is the activated carrier for electrons
Glycogenolysis to form glucose
NADH - NADPH - FADH2
Purines= A - G pyrimidine = C - T (U)
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

44. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Krabbes - galactocerebrosidase - galactocerebroside - AR
Glycogenolysis to form glucose
Carbomoyl phosphate synthetase I
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

45. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Met - val - arg his
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

46. What is anticipation and give an example
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
CarTWOlage
32 - malate aspartate shuttle
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

47. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
CAG - 4
Ile - phe - thr - trp
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

48. How do you diagnose CFTR
Oligomycin
RRNA
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Inc Cl - in sweat

49. Where is vit B12 found
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Active secretion in lungs and GI - reabsorbs in skin
P2 +2pq+ = 1

50. Where is acetaldehyde located
Result from phagocytic removal of heinz bodies my macs - G6PD def
Mitochondria
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Silencers

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Biochemistry

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