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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 a phosphatase do
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Paclitaxel
SnRNPs
Removes phosphate group from substrate

2. What is the RER called in neurons and What is made there
Activates LCAT
Not all individuals with a mutant genotype show the mutant phenotype
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Nissl body - enzyme and NTs

3. What are the symptoms of vit A def
Night blindness - dry skin
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

4. What is the main source of folate
Foliage - small reserve in liver - eat green leaves
Thymic - parathyroid and cardiac
Intermediate filaments
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

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

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6. What does CATCH 22 stand for and What causes is...
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Alanine
Glycogen synthase
Familial hypercholesterolemia - hyperlipidemia type IIA

7. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Fibroblast
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
IDL

8. What is the RDE of glycogen synthesis
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
HMG- CoA (HMG- CoA to mevalonate
RNA poly II
Glycogen synthase

9. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Cri du chat
Intermediate filaments
ATP and methionine
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

10. Where is EtOH dehydrogenase located
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Cytosol
Leu - lys
CAG - 4

11. What is the hardy weinberg allele prevalence
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Uses ATP to add high energy phophate group onto substrate
Glycogen phosphorylase
P+q = 1

12. What is NAD+ generally used for
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
HMG- CoA synthase
Protein
Catabolic processes to carry reducing equivalents away as NADH

13. What enzyme def can cause emphysema
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
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
Flagella - cilia - mitotic spindles
Alpha1 antitrypsin

14. What happens in vit K def
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Schilling test
Only processed RNA

15. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Orotic acid to UMP
Essential fructosuria - fructokinase AR

16. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
9+2 arrangement of microtubules
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Alpha - ketoglutarate dehydrogenase complex

17. What is the activated carrier for methyl groups
SAM
Heterochromatin = HighlyCondensed
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
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

18. What happens in a B12 def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Alpha 1 -6 and alpha 1 -4

19. What apolipoproteins are on chylomicrons
5' to 3'
B48 - AIV - CII - E
Heterochromatin = HighlyCondensed
75 to 90 - cloverleaf

20. What does lipoprotein lipase do
Inhibits 50S peptidyltransferase
Phenylethamolamine N methyl transferase
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Degredation of TG circulating in chylomicrons and VLDLs

21. What are covalent alterations
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Phosphorylation - glycosylation - hydroxylation
Two
GTP

22. What is the structure of elastin
Initiate chains
Tropoelastin with fibrillin scafolding
Neimann - pick - sphingomyelinase - sphingomyelin - AR
30 - glycerol -3- phosphate shuttle

23. What is pleiotropy and given an example
Procollagen - triple helix of 3 alpha collagen chains
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

24. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Sucrose = glucose + fructose - lactose = glucose + galactose
Oxalacetate
Glycine - aspartate - glutamine
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

25. trinucleotide repeat fo myotonic dystrophy
CTG
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Tropoelastin with fibrillin scafolding
Dopa decarboxylase

26. What are the function of vit C
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
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Males are infertile due to bilateral absence of vas deferens
Active secretion in lungs and GI - reabsorbs in skin

27. 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
Hyperlipidemia
Eu - methionine - pro - formyl - methionine
GAA
FISH

28. What does degenerate/rundant genetic code refer to...
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
More than 1 codon may code for the same amino acid
No
RNA

29. What makes up a nucleoside
Base + ribose
Proton gradient
Alpha and beta tubulin - dimers have two GTP bound
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

30. Describe the structure of cilia
9+2 arrangement of microtubules
2pq
ATP and methionine
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

31. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Familial hypercholesterolemia - hyperlipidemia type IIA
Active secretion in lungs and GI - reabsorbs in skin
HVA

32. What is the RDE of de novo purine synthesis
Glutamine PRPP amidotransferase
Diphyllobothrium latum
Collagen
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

33. What is the amino acid precuror for creatine - urea and nitric oxide
Flagella - cilia - mitotic spindles
Arginine
Assistance of upper extremities to stand up
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

34. Where is hexokinase found - What is its Km and Vmax and what uninduces it
SnRNPs and other proteins
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
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

35. If two alleles are present - but the active allele is deleted - what happens
Supply sufficient glucose to brain and RBCs and to preserve protein
Disease
30 - glycerol -3- phosphate shuttle
Leu - lys

36. What is loss of heterozygosity and give an example
Adenosine to inosine
Coenzyme A - lipoamide
CGG
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

37. What feedback inhibits hexokinase
Type II
Glucose -6 phosphate
Disease
The triphosphate bond

38. What is the exception to genetic redundancy
Methionine encode by only 1 codon (AUG)
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Oxidative is irreversible
Fructose 1 -6 bisphosphate

39. What does an umabiguous genetic code refer to...
Peroxide
Each codon specifies only 1 amino acid
Facial flushing
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

40. The pyruvate dehydrogenase complex serves In what reaction: products
Acetly- CoA - CO2 - NADH
Ile - phe - thr - trp
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Phosphorylation - glycosylation - hydroxylation

41. What is the activated carrier for Co2
No
G6PD
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Biotin

42. How does patients present with ADPKD
Ile - phe - thr - trp
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
PFK - rate limiting enzyme
Flank pain - hematuria - HTN - progressive renal failure

43. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Griseofulvin
Ribose 5- P to PRPP
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Malonyl coa

44. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Paclitaxel
MEN - 2A and 2B with ret gene
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

45. What does hepatic TG lipase do
ATP - citrate
Degradation of TG remaining in IDL
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Terminal regions - tropocollagen

46. What does PURe As Gold and CUT The Py stand for
Purines= A - G pyrimidine = C - T (U)
Not all individuals with a mutant genotype show the mutant phenotype
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
LDL

47. recurrent pulmonary infxns in CF are due to what organisms
1 ring
Proline and lysine - vit C
Cofactor for LPL
Pseudomonas and s aureus

48. Pts with albinism are at inc risk For what cancer
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Skin
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Changed AA (convservative - new AA is similar in chemical structure)

49. What does SAM do
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Transfers methyl units
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
UDP glucose pyrophosphorylase

50. How is orotic aciduria inherited
AR
CarTWOlage
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle