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Biochemistry

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1. How do microtubules grow and collapse
Grows slowly - collapses quickly
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Silencers
Carnitine acyltransferase I

2. How do aminoglycosides work
By inhibiting formation of the initiation complex and cause misreading of mRNA
Foliage - small reserve in liver - eat green leaves
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

3. Describe the replication fork
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Removal of N or C termal propeptides from zymogens to generate mature proteins
Connective tissue
L form

4. What are cyclin - CDK complexes
Must be both activated and inactivated for cell cycle to progress
Transmitted only through mother - all offspring of affected females may show signs of disease
NF2 on chromosome 22
APC on chromosome 5

5. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Microarrays
Lactate

6. What apolipoprotein is on LDL
B100
SNP
AR
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

7. What co - factors are required for the pyruvated dehydrogenase complex
Blood - bone marrown - amniotic fluid - placental tissue
Histidine
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

8. What enzyme def can cause emphysema
Rotenone - CN- - antimycin A - CO
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Oxidative is irreversible
Alpha1 antitrypsin

9. What is the complication of cystinuria
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Result from phagocytic removal of heinz bodies my macs - G6PD def
Oxidized hemoglobin precipiated within RBCs
Protective against malaria

10. What does arsenic do and What are th results of poisoning
Initiate chains
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

11. What ribosomes do prokaryotes have
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Adds an inorganic phosphate onto substrate without using ATP
30 - 50 - 70
Isocitrate dehydrogenase

12. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Familial hypercholesterolemia - hyperlipidemia type IIA
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

13. What is the RDE of the HMP shunt
O- oligosaccharaides
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Glucose 6 phosphate dehydrogenase (G6PD)
Dopa decarboxylase

14. Mild Hurlurs + aggressive behavior no corneal clouding
X- linked recessive
Degredation of dietary TG in small intestine
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Dermatitis - glossitis - and diarrhea

15. What enzyme becomes essential in PKU
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Anabolic processes as a supply of reducing equivalents
Tyrosine

16. What is the defect in II A familial hypercholesterolemia
Inc CPK and muscle biopsy
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Comlex II
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

17. What does the primary transcript combine with to form the spliceosome
SnRNPs and other proteins
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
APKD1 on chromosome 16
B100

18. RNA poly can't proofread - but What can it do
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Acetyl - CoA to malonyl - CoA (2C to 3C)
Initiate chains
By inhibiting formation of the initiation complex and cause misreading of mRNA

19. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Fibrofatty replacement of muscle - cardiac myopathy
Cleft palate - cardiac abnl - pregs test
Inc glucagon - inc cAMP - inc PKA
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

20. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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21. Do balanced translocations cause abnl phenotype
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
No
Malonyl coa
SnRNPs

22. Which are the basic amino acids
Orotate precursor - with PRPP added later
Arg - lys - his - arg is most basic - has has no charge at body pH
HDL
Mcardle's - skeletal muscle glycogen posphorylase

23. Why is G6PD def more common among patients of african decent
Protective against malaria
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Poly A polymerase - signal is AAUAA

24. ADPKD is associated with What additional conditions
RNA poly II
40 - 60 - 80
Alpha 1 -6 and alpha 1 -4
Polycystic liver disease - berry aneurysm - mitral valve prolapse

25. What two rxns in in glycolysis require ATP
Phosphorylation - glycosylation - hydroxylation
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Connective tissue

26. What is sorbitol - how and why is it made
Ile - phe - thr - trp
SnRNPs
Huntingtons
Alcohol version of glucose - can trap glucose in cell - aldose reductase

27. Describe the structure of cilia
Glucose -6 phosphate
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
9+2 arrangement of microtubules

28. How does abetalipoproteinemia present and What is the defect
Adds an inorganic phosphate onto substrate without using ATP
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
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
Uses ATP to add high energy phophate group onto substrate

29. How do odd chain fatty acids participate in gluconeogenesis
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Palate - facial and cardiac defects
Rotenone - CN- - antimycin A - CO

30. Which cells are rich in smooth ER
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Liver hepatocytes and steroid producing cells of the adrenal cortex
30 - glycerol -3- phosphate shuttle
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

31. What defects characterize velocardiofacial syndrome
Pyruvate to oxaloacetate (3C to 4C)
Palate - facial and cardiac defects
Dec methionine - inc cystiene - inc B12/folate
Read from a fixed starting point as a continuous sequence of bases

32. What is the amino acid precursor for GABA and glutathione
Glutamate
Malonyl coa
THFs
25OHD3

33. What does GFAP stain for
Promotor - TATA box - and CAAT box - AT rich
Neuralgia
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

34. trinucleotide repeat fo myotonic dystrophy
CTG
DsRNA promotes degradation of target mRNA knocking down gene expression
Binds to LDL receptor - mediates VLDL secretion
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

35. FAP is due to deletion On what gene On what chromosome
Mutated dystrophin gene - less severe - adolescence
More than 1 codon may code for the same amino acid
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
APC on chromosome 5

36. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Karyotyping
Breaks down acyl - coa to acetyl coa groups in mito
Promotor - TATA box - and CAAT box - AT rich
Oxalacetate

37. Pts with albinism are at inc risk For what cancer
Skin
Elastase - inhibited by alpha1 antitrypsin
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

38. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Antioxidant - protects RBCs and membrances from free radical damage
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
NAD+

39. What are the 3 AR forms of homocystinuria
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
40 - 60 - 80

40. How many rings do purines have
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Heterochromatin = HighlyCondensed
Adenosine to inosine
2 rings

41. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Oxidative and nonoxidative - no ATP produced or used
RER
Neg to pos

42. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Cleft palate - cardiac abnl - pregs test
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
Kidney - ears - eyes

43. What enzyme converts phenylalanine to tyrosin
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Phenylalanine hydroxylase
Must be both activated and inactivated for cell cycle to progress
Procollagen - triple helix of 3 alpha collagen chains

44. What metabolic rxns occur in both the cytoplasm and mitochondria
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Procollagen - triple helix of 3 alpha collagen chains
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

45. What is the function of biotin
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

46. What form of amino acids are found in proteins
Krabbes - galactocerebrosidase - galactocerebroside - AR
L form
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
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

47. What is the defect in cystinuria
Kidney - ears - eyes
Carbomoyl phosphate synthetase I
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
DsRNA promotes degradation of target mRNA knocking down gene expression

48. How do permanent cells grow and regenerate and What are examples of permanent cells
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
B100 and E
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

49. What are possilbe presentation for galactokinase def
Failure to track objects or develop a social smile
UDP glucose pyrophosphorylase
Anabolic processes as a supply of reducing equivalents
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

50. What does osteogenesis imperfecta causes and why
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
Same AA - often base change in 3rd position of codon (tRNA wobble)
Niacin - constituent of NAD and NADP - derived from tryptophan
Cytosol - F 1 -6 BP to fructose 6 Phosphate

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Biochemistry

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