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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 does Citrate Is Krebs starting substrate for making oxaloacetate
Neurofibromatosis type 1 (von Recklinghausens disease)
Kidney - ears - eyes
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Met - val - arg his

2. Gene imprinting implies that How many alleles are active at a single locus
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
One
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

3. What is the activated carrier for Co2
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Biotin
By inhibiting formation of the initiation complex and cause misreading of mRNA
Glycine - aspartate - glutamine

4. What is the initial transcript called and What is the capped and tailed transcript called
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Alcohol version of glucose - can trap glucose in cell - aldose reductase
RER

5. Which are the acidic amino acids
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Griseofulvin
Asp and Glu
Mcardle's - skeletal muscle glycogen posphorylase

6. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Citrate - acetyl coa from mito to cyto
Cre - lox system
PCR - denaturation - annealing - elongation

7. What is the breakdown product of epi
Metanephrine
Proline and lysine - vit C
Failure to track objects or develop a social smile
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

8. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
40 - 60 - 80
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Microtubules

9. In what direction are DNA and RNA synthesized

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10. What happens in carnitine def
Cartilage - hyaline - vitreous body - nucleus pulposus
Adenosine to inosine
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Krabbes - galactocerebrosidase - galactocerebroside - AR

11. What are cyclin - CDK complexes
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Only processed RNA
Must be both activated and inactivated for cell cycle to progress
Orotate precursor - with PRPP added later

12. What is the wernicke - korsakoff clinical picture
Sulfation
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Krabbes - galactocerebrosidase - galactocerebroside - AR

13. What are the only purely ketogenic amino acids
Makes RNA primer on which DNA poly III can initiate replication
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Lysine and leucine
Acetoacetate and beta hydroxybutyrate

14. What causes Down syndrome
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Alanine
Phosphorylation - glycosylation - hydroxylation
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

15. What is a silent mutation
Glycine - aspartate - glutamine
B12 and folate
Same AA - often base change in 3rd position of codon (tRNA wobble)
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

16. Describe the structure of cilia
9+2 arrangement of microtubules
Proton gradient
Same as sprint + OXPHOS
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

17. What does apoCII do
Cofactor for LPL
Glutamate
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
BOne

18. Which anticancer drugs work on microtubules
Liver hepatocytes and steroid producing cells of the adrenal cortex
Vincritsine/vinblastine
Phosphorylation - glycosylation - hydroxylation
RNA

19. What is the Name and fxn of vit B5
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
RNA poly II
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

20. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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21. What is the RDE of glycogenolysis
Glycogen phosphorylase
IDL
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

22. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Dermatitis - enteritis - alopecia - adrenal insuff
Alpha - ketoglutarate dehydrogenase complex
THFs
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

23. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Failure to track objects or develop a social smile
Silencers
Inc glucagon - inc cAMP - inc PKA
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

24. What polar group does guanine have - and what non polar group does thymine have
Karyotyping
Histidine
Ketone - methyl
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

25. What is sorbitol - how and why is it made
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Conversion of NE to epi

26. What does Ehlers Danlos cause and why
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Conversion of NE to epi
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

27. What 3 syndromes are associated with vit B1 def
Procollagen - triple helix of 3 alpha collagen chains
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Protein kinase A
Wernicke - korsakoff - dry and wet beriberi

28. What does an umabiguous genetic code refer to...
Each codon specifies only 1 amino acid
More than 1 codon may code for the same amino acid
Chylomicrons
CarTWOlage

29. What is the breakdown product of dopamine
B-100 - CII and E
ATP - citrate
HVA
Lysine and leucine

30. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Biotin
OTC has hyperammonemia - orotic aciduira does not
Lacks glucose 6 phophatase
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles

31. What is the RDE of fatty acid oxidation
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
CAG
Carnitine acyltransferase I
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

32. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
75 to 90 - cloverleaf
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

33. What are the names and sources of the two types of vit D found in nature
Alpha - ketoglutarate dehydrogenase complex
Neimann - pick - sphingomyelinase - sphingomyelin - AR
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

34. What happens in zinc def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Lactate
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Glycogen and FFA oxidation; glucose conserved for final sprinting

35. bilateral acoustic schwannomas - juvenile cataracts
TTP
Neg to pos
III - joint dislocation - anuerysms - organ rupture
NF2 on chromosome 22

36. What do def in in enzymes of gluconeogenesis cause
DNA
AR
Hypoglycemia
Night blindness - dry skin

37. What metabolic rxns occur in both the cytoplasm and mitochondria
Alpha 1 -6 and alpha 1 -4
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Avidin
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

38. What does CATCH 22 stand for and What causes is...
Abnormal protein folding - degradation before reaching cell surface
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Read from a fixed starting point as a continuous sequence of bases

39. What activates the pyruvate dehydrogenase complex
Defect in fibrillin
5' to 3'
Exercise: inc NAD/NADH - inc ADP - inc Ca
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

40. Which direction does kinesin go
NF2 on chromosome 22
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Neg to pos
Fructose 1 -6 bisphosphate

41. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Consesus sequenec of base pairs
Carbomoyl phosphate synthetase II
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

42. 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
Peroxide
Glutamate
Tuberous sclerosis
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

43. In eukaryotes - What does RNA poly III make
Liver - ovaries - seminal vesicles
Epithelial cells
TRNA
Proton gradient

44. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Neither of 2 alleles is dominant - blood groups
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
More than 1 codon may code for the same amino acid
Sucrose = glucose + fructose - lactose = glucose + galactose

45. Where is hexokinase found - What is its Km and Vmax and what uninduces it
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Protective against malaria
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

46. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Niacin - constituent of NAD and NADP - derived from tryptophan
TRNA
2pq
Chylomicrons

47. Fluorescent DNA or RNA probe binds to specific gene of interest - used for specific localization of genes and direct visualization of anomalies - like microdeletions - at molecular level
FISH
NAD+
Flagella - cilia - mitotic spindles
Proline and glycine (non glycosylated forms)

48. What are covalent alterations
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
RNA
Phosphorylation - glycosylation - hydroxylation
HMG- CoA reductase

49. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Oligomycin
Malonyl coa
Flank pain - hematuria - HTN - progressive renal failure
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

50. The pyruvate dehydorgenase complex serves In what reaction: reactants
Phenylalanine
Karyotyping
Pyruvate - NAD+ - CoA
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss