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Biochemistry

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1. What causes B12 def
VLDL
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Marasmus - muscle wasting
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

2. Mild Hurlurs + aggressive behavior no corneal clouding
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
After citruline
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

3. What is pleiotropy and given an example
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Defect in fibrillin
40 - 60 - 80
Biotin

4. What are ketone bodies made from - where are they metabolized and how are they excreted
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Degradation of TG stored in adipocytes
FMR1 gene - methylation - associated with chromosomal breakage

5. nucleotide repeat for fragile x
SNP
Heterochromatin = HighlyCondensed
Debranching enzyme
CGG

6. What are the glucogenic essential amino acids
Met - val - arg his
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Phenylketones in urine

7. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
One
CAG - 4
X linked frame shif mutation
ATP

8. What is the Name and fxn of vit B5
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Mcardle's - skeletal muscle glycogen posphorylase
ATP
Orotate precursor - with PRPP added later

9. What shuttle is used in fatty acid degredation and What does it move and From where to where
Leu - lys
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
B100 and E
Carnitine shuttle - acyl - coa from cyto to mito

10. How do tetracyclines work
CAG
The triphosphate bond
Bind 30s subunit preventing attachment of aminoacyl - tRNA
APKD1 on chromosome 16

11. What is uniparental disomy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Not all individuals with a mutant genotype show the mutant phenotype
Disease
Specific glycosylases - AP endonuclease

12. What are the mRNA stop codons
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
UGA - UAA and UAG
Malabsorption and steatorrhea (ADEK)
OTC has hyperammonemia - orotic aciduira does not

13. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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14. In which structures do you find microtubules
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Flagella - cilia - mitotic spindles
Connective tissue
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)

15. What is a missense mutation
Protein
Mediates extra remnant take up
Anabolic processes as a supply of reducing equivalents
Changed AA (convservative - new AA is similar in chemical structure)

16. What fxn does glucokinase serve in the liver
AMP - fructose 2 -6 BP
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
RNA
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

17. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
L form
Carnitine acyltransferase I
Dermatitis - glossitis - and diarrhea

18. In what cell is collagen synthesis initiated
Fibroblast
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Malabsorption and steatorrhea (ADEK)
Each codon specifies only 1 amino acid

19. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Sucrose = glucose + fructose - lactose = glucose + galactose
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Avidin
Makes RNA primer on which DNA poly III can initiate replication

20. Broadly - What can cause fat - soluble vitamin deficiencies
NAD+
Malapsorption syndromes like sprue or CF or mineral oil intake
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

21. Where are FADH2 electrons transferred to...
Carnitine acyltransferase I
DNA
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Comlex II

22. What inhibits the carnitine shuttle
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Malonyl coa
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

23. How does ouabain work
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Inhibits the Na/K pump by binding the K side
Transfers methyl units
Unmethylated - newly synthesized - HNPCC

24. Type IV BM
Tyrosine
X linked frame shif mutation
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
4 under the floor

25. In prokaryotes - What does makes the different types of RNA
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
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)
1 kind with multiple subunits
Active secretion in lungs and GI - reabsorbs in skin

26. What is mosaicism and give an example
Acetyl - CoA carboxylase (ACC)
BOne
Specific glycosylases - AP endonuclease
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

27. What is loss of heterozygosity and give an example
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
4 under the floor
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
Neurons

28. What are the two possible causes of albinism
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Mediates extra remnant take up

29. What are pyrimidines made from
Glucose -6 phosphate
Orotate precursor - with PRPP added later
II - VII - IX - X (1972) protein C and S
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

30. What is the results of vit B1 def
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Silencers
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

31. What does the mutation in the gene cause in protein synthesis
Abnormal protein folding - degradation before reaching cell surface
Phenylalanine hydroxylase
Marfans
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

32. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Terminal regions - tropocollagen
Transmitted only through mother - all offspring of affected females may show signs of disease
Carbomoyl phosphate synthetase II
2 -4 DNP - aspirin

33. What does DNA poly I do?
Nissl body - enzyme and NTs
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Heterochromatin = HighlyCondensed

34. Which direction does dynein go
Post to neg
Neg to pos
B-100 - CII and E
AMP - fructose 2 -6 BP

35. FAP is due to deletion On what gene On what chromosome
Glycogen phosphorylase
APC on chromosome 5
Hereditary spherocytosis
B-100 - CII and E

36. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Intermediate filaments
Eu - methionine - pro - formyl - methionine
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

37. What inhibits pyruvate kinase
ATP and alanine
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Glycogenolysis to form glucose
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

38. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Degradation of TG stored in adipocytes
DTMP
After day 1
They yield only acetyl - CoA equivalents

39. What substance inside the cell serves to oxidize glutatione
Robertsonian translocation and mosaicism
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Superoxide dismutase
Peroxide

40. What is the activated carrier for Acyl
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
Coenzyme A - lipoamide
Anabolic processes as a supply of reducing equivalents
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

41. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
B12 and folate
Schilling test
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Rb and p53

42. What does apoE do
Mebendazole/thiabendazole
Mediates extra remnant take up
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

43. What does NADPH oxidase deficiency result in and why
Williams syndrome
Transmitted only through mother - all offspring of affected females may show signs of disease
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Stored ATP - creatine phosphate - anaerobic glycolysis

44. What part of the pre mRNA contains the actual genetic information coding for protein
IDL
PFK - rate limiting enzyme
Exons
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

45. NADPH are used In what 4 things
5' of the incoming nucleotide
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Proline and glycine (non glycosylated forms)
AR

46. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
TTP
Glycine
High output cardiac failure - dilated cardiomyopathy - edema
Marasmus - muscle wasting

47. How many rings do pyrimidines have
They yield only acetyl - CoA equivalents
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
1 ring
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

48. How do fluoroquinolones work
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Antibiotic use or excessive ingestion of raw eggs
Inhibit DNA gyrase specific for prokaryotic topoisomerase

49. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
OTC has hyperammonemia - orotic aciduira does not
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
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
Reads usual codon but inserts wrong AA

50. What causes Edwards syndrome and What is it
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
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Fasting

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Biochemistry

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