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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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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. What does fomepizole do
Inhibits RNA polymerase II - found in death cap mushrooms
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
After citruline
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

2. What is imprinting and give an example

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3. What is the most abundant type of RNA
Changed AA (convservative - new AA is similar in chemical structure)
Vit K antagonist
RRNA
1 kind with multiple subunits

4. characterize x linked dominant
Acetly- CoA - CO2 - NADH
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

5. What is the main source of folate
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Foliage - small reserve in liver - eat green leaves
PCR - denaturation - annealing - elongation
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

6. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Binds to LDL receptor - mediates VLDL secretion
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Inc vit B6
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

7. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Intermediate filaments
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

8. What polar group does guanine have - and what non polar group does thymine have
RRNA
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Ketone - methyl
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

9. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Hypoxanthine to xanthing and xanthine to uric acid
CG- 3 > AT-2 - More CG content - melting point goes up
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

10. What do B- complex vitamin deficiencies often result in
Targets the proteins for lysosome
Attachment of ubiquitin to defective proteins tag them for breakdown
Dermatitis - glossitis - and diarrhea
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

11. What does lactase deficiency cause
FISH
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Colchicine
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

12. What two cells are particularly rich in RER
Mucus secreting globlet cells and antibody secreting plasma cells
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Carbomoyl phosphate synthetase I

13. What is the defect in I- hyperchylomicronemia
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Rotenone - CN- - antimycin A - CO
Proline and glycine (non glycosylated forms)
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

14. Which anticancer drugs work on microtubules
Glycogenolysis to form glucose
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Vincritsine/vinblastine
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

15. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Citrate - acetyl coa from mito to cyto
Alanine
DNA
Phosphofructokinase 1

16. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Glutamate
Oxalacetate
IDL
Basement membrane or basal lamina

17. What reaction does adenosine deaminase normally catalyze
Phenylethamolamine N methyl transferase
Schilling test
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Adenosine to inosine

18. What form of amino acids are found in proteins
AR
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
40 - 60 - 80
L form

19. How does patients present with ADPKD
Cytosol
Deamination
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
Flank pain - hematuria - HTN - progressive renal failure

20. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Ribos first then deoxyribos with ribonucleotide reductase
Robertsonian translocation and mosaicism
Mediates chylomicron secretion
PFK - rate limiting enzyme

21. What is uniparental disomy
Ribose 5- P to PRPP
B100
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
MRNA - tRNA

22. What does the golgi add to serine and threonine residues
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
O- oligosaccharaides
Neurons
Inc vit B6

23. What is the RDE of glycogen synthesis
Lactate
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Glycogen synthase
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

24. Which antifungal drugs work on microtubules
Griseofulvin
Nonsense > missense > silent
Met - val - arg his
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

25. The pyruvate dehydrogenase complex serves In what reaction: products
Inhibits the Na/K pump by binding the K side
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Acetly- CoA - CO2 - NADH
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

26. Infection with what organism can cause B12 def
Histidine
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Diphyllobothrium latum
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

27. What happens in termination of proteins synthesis
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Stop codon is recognized by release factor - and completed protein is released from ribosome
25OHD3
Anchor muscle fibers - primarily in skeletal and cardiac muscle

28. What is the origin of replication
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Alpha - ketoglutarate dehydrogenase complex
Particular sequence of DNA where replicatino begins - may be single of multiple

29. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
HMG- CoA (HMG- CoA to mevalonate
Acetyl - CoA
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

30. What does a northern blot use as its sample
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Binds to LDL receptor - mediates VLDL secretion
RNA
CarTWOlage

31. delivers hepatic TGs to peripheral tissue - secreted by liver
Base + ribose
B48 - AIV - CII - E
No
VLDL

32. Describe the structure of cilia
Ribos first then deoxyribos with ribonucleotide reductase
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
9+2 arrangement of microtubules
SnRNPs and other proteins

33. What are cyclin - CDK complexes
CTG
Must be both activated and inactivated for cell cycle to progress
Enhancers
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death

34. What are the findings in Down's syndrome
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
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
Changed AA (convservative - new AA is similar in chemical structure)
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

35. What substances are uncouling agents
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Targets the proteins for lysosome
III - joint dislocation - anuerysms - organ rupture
2 -4 DNP - aspirin

36. Which antihelminthe drugs work on microtubules
Acetyl - CoA
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Mebendazole/thiabendazole
Assistance of upper extremities to stand up

37. What does the CFTR channel do in the lungs - GI tract and skin
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Active secretion in lungs and GI - reabsorbs in skin
Assistance of upper extremities to stand up
Cyclin dependent kinases;constitutive and inactive

38. Where is vit B12 found
Neg to pos
They yield only acetyl - CoA equivalents
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Actin and myosin

39. What is the fxn of vit E
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Antioxidant - protects RBCs and membrances from free radical damage
Huntingtons

40. What is the most abundant protein in the body
Debranching enzyme
Collagen
Conversion of NE to epi
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

41. What is a silent mutation
Krabbes - galactocerebrosidase - galactocerebroside - AR
Same AA - often base change in 3rd position of codon (tRNA wobble)
Q -
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

42. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Carnitine acyltransferase I
IMP precursor
Glucose -6 phosphate
30 - glycerol -3- phosphate shuttle

43. What makes up a nucleoside
Myeloperoxidase
ATP
Base + ribose
Arg and his inc in histones Which bind negatively charged DNA

44. what happens in acyl coa dehyrdogenase def
Arg and his inc in histones Which bind negatively charged DNA
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Inc dicarboxylic acids - dec in glucose and ketones
SnRNPs and other proteins

45. What metabolic rxns occur in the cytoplasm
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
The triphosphate bond
Peroxide
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE

46. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

47. What happens in carnitine def
Metanephrine
Griseofulvin
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

48. What substance inside the cell reduces glutatione
Glycine
NADPH
Phosphofructokinase 1
Glycogen synthase

49. Do balanced translocations cause abnl phenotype
No
RER
Vit K antagonist
Hyperlipidemia

50. What does a phosphatase do
BOne
Glutamine PRPP amidotransferase
Removes phosphate group from substrate
Blood - bone marrown - amniotic fluid - placental tissue