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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. What are covalent alterations
Phenylketones in urine
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Phosphorylation - glycosylation - hydroxylation
Proline and lysine - vit C

2. What happens with wet beriberi
Accelearted muscle breakdown
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
High output cardiac failure - dilated cardiomyopathy - edema
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

3. What is the result of vit B5 def
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Glutamate
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Y shaped region along the DNA template where leading nad lagging strands are synthesized

4. Broadly - What can cause fat - soluble vitamin deficiencies
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
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Malapsorption syndromes like sprue or CF or mineral oil intake

5. What happens in zinc def
CarTWOlage
Glutamate
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Glycogen and FFA oxidation; glucose conserved for final sprinting

6. What is the energy source for tRNA actication (charging)
ATP
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Zero
Karyotyping

7. What two amino acids are required druing periods of growth and why
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Arg and his inc in histones Which bind negatively charged DNA
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

8. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Glucose - 2Pi - 2ADP - 2NAD+
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
MEN - 2A and 2B with ret gene

9. How do odd chain fatty acids participate in gluconeogenesis
Mebendazole/thiabendazole
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Phosphorylation - glycosylation - hydroxylation
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

10. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Niacin - constituent of NAD and NADP - derived from tryptophan
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

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

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12. What does apoCII do
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
APC on chromosome 5
Cofactor for LPL
Protein

13. What happens in vit D excess
Defect in fibrillin
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Von Gierke's - Pompe - Cori - McArdle
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

14. What defects characterize DiGeorge syndrome
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
MRNA
Histidine
Thymic - parathyroid and cardiac

15. What are the symptoms of vit A def
ATP
Schilling test
Night blindness - dry skin
Modifies N- oligosaccharides

16. Which anti gout drugs work on microtubules
Adenosine to inosine
Liver - also in kidney and gut epithelium
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Colchicine

17. Which anti breast cancer drugs work on micortubules
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
1 ring
Hypoglycemia
Paclitaxel

18. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Karyotyping
CFTR gene - 7 - Phe 508
Cofactor for LPL

19. Which anticancer drugs work on microtubules
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Adenosine to inosine
Vincritsine/vinblastine
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

20. Where is glucokinase found - What are the Km and Vmax - and what induces it
The triphosphate bond
Inc glucagon - inc cAMP - inc PKA
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Flagella - cilia - mitotic spindles

21. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
Transmitted only through mother - all offspring of affected females may show signs of disease
Scrutinizes - hydrolyzes the bond
Malabsorption and steatorrhea (ADEK)

22. Which tumor suppresors inhibit G1 to S progression - where mutations result in unrestrained growth
Rb and p53
Nissl body - enzyme and NTs
Elastase - inhibited by alpha1 antitrypsin
CGG

23. What does Alports syndrome cause and why
Enhancers
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
CAG - 4
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

24. What is the RDE of the HMP shunt
Creat a nick in the helix to relieave supercoils created during replication
SAM
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Glucose 6 phosphate dehydrogenase (G6PD)

25. Which antifungal drugs work on microtubules
Griseofulvin
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Palate - facial and cardiac defects

26. What is chediak higashi
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Oral uridine administration

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

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28. What are the physical findings of fragile x syndrome
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Proton gradient
3' end (with CCA)

29. What metabolic rxns occur in the mitochondria
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Dermatitis - alopecia - enteritis
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
MRNA - tRNA

30. What is the Name and function of vit B2
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Not all individuals with a mutant genotype show the mutant phenotype
Histidine
CTG

31. decreases In what substances can cause PKU
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
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
Dermatitis - enteritis - alopecia - adrenal insuff
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

32. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Oxalacetate
Met - val - arg his
Mitochondria
Removal of N or C termal propeptides from zymogens to generate mature proteins

33. When does aspartate enter the urea cycle
1 ring
After citruline
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

34. What is codominance and give an example
Disorder of aromatic amino acid metabolism
Neither of 2 alleles is dominant - blood groups
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

35. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
F16BP
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)
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

36. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
PCR - denaturation - annealing - elongation
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Oxalacetate
Dermatitis - enteritis - alopecia - adrenal insuff

37. What is the amino acid precursor for catecholamines
Core proteins
Phenylalanine
Antioxidant - protects RBCs and membrances from free radical damage
Cofactor for LPL

38. In eukaryotes - What does RNA poly II make
AR
Liver hepatocytes and steroid producing cells of the adrenal cortex
MRNA
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

39. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
Glutamine PRPP amidotransferase
Degredation of TG circulating in chylomicrons and VLDLs
Isocitrate dehydrogenase

40. What form of amino acids are found in proteins
Protein
L form
Inhibit DNA gyrase specific for prokaryotic topoisomerase
1 kind with multiple subunits

41. What drugs can cause folate def
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Phenytoin - MTX - and sulfonamides
RNA poly II

42. What does a phosphorylase do
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Adds an inorganic phosphate onto substrate without using ATP
HMP shunt
Disease

43. What apolipoprotiens are on VLDL
Only processed RNA
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
B-100 - CII and E
APRT + PRPP

44. What is NADPH used for
Anabolic processes as a supply of reducing equivalents
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
CGG
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

45. A small proportion of Down syndrome is due to What two genetic events
SnRNPs and other proteins
Protein kinase A
Robertsonian translocation and mosaicism
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

46. What produces NADPH
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
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Fasting
HMP shunt

47. What apolipoprotein is on LDL
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Mebendazole/thiabendazole
B100

48. What is the function of biotin
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
No - its non homologous
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Removes phosphate group from substrate

49. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Familial hypercholesterolemia - hyperlipidemia type IIA
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

50. What creates the musty body odor in PKU
Medial dorsal nucleus of thalamus - mamillary bodies
Glucose -6 phosphate
Disorder of aromatic amino acid metabolism
Glycogen and FFA oxidation; glucose conserved for final sprinting