Biochemistry

Instructions:

• Answer 50 questions in 15 minutes.
• If you are not ready to take this test, you can study here.
• Match each statement with the correct term.
• Don't refresh. All questions and answers are randomly picked and ordered every time you load a test.

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. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Semiconservative - continuous and discontinuous strands (okazaki fragments)
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)
Inc Cl - in sweat
Von Gierke's - Pompe - Cori - McArdle


2. What fxn does glucokinase serve in the liver
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Tuberous sclerosis
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels


3. Milder form of type I with nl blood lactate levels - dz and enzyme

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4. What catacholamine step is SAM required for
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Dec DNA - dec lymphos leads to SCID
Conversion of NE to epi
2 rings


5. What do the single stranded binding proteins do
Prevent strands from reannealing
Promotor - TATA box - and CAAT box - AT rich
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Activates LCAT


6. characterize mitochondrial inheritance
Transmitted only through mother - all offspring of affected females may show signs of disease
Scrutinizes - hydrolyzes the bond
APKD1 on chromosome 16
Four


7. What collagen type is most frequently affected in ehlers danlos and What are common complications
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
III - joint dislocation - anuerysms - organ rupture
ATP hyrdolysis couple to energetically unfavorable rxns


8. What is the rate determining enzyme (RDE) of glycolysis
Heterochromatin = HighlyCondensed
Phosphofructokinase 1
Nissl body - enzyme and NTs
4 under the floor


9. Synthesis of vit B3 requires what other vitamin
B6
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Cri du chat
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination


10. What is a nonsense mutation
Malapsorption syndromes like sprue or CF or mineral oil intake
Change resulting in early stop codon
Neurofibromatosis type 1 (von Recklinghausens disease)
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response


11. How is vit D stored
DNA
ATP
25OHD3
Glycogen synthase


12. What does a defective Cl channel do
Degradation of TG remaining in IDL
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Ribose 5- P to PRPP
Diphyllobothrium latum


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

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14. What makes up a nucleotide

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15. What does DNA poly I do?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Degradation of TG stored in adipocytes
Neuralgia
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer


16. Type III collagen
NADH - NADPH - FADH2
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Glycogenolysis to form glucose
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)


17. Name as many x- linked recessive disorders as you can

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18. What enzyme converts glucose 1 p to UDP glucose
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
30 - 50 - 70
UDP glucose pyrophosphorylase


19. What tissues have both enzymes of sorbitol metabolism
Alpha1 antitrypsin
Liver - ovaries - seminal vesicles
Binds 50S - blocking translocation
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR


20. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
X linked frame shif mutation
Same AA - often base change in 3rd position of codon (tRNA wobble)
Dec DNA - dec lymphos leads to SCID


21. Why can't even chain fatty acids produce new glucose
Each codon specifies only 1 amino acid
They yield only acetyl - CoA equivalents
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
RER


22. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Familial hypercholesterolemia - hyperlipidemia type IIA
Tryptophan
PCR - denaturation - annealing - elongation
Night blindness - dry skin


23. What is the order of severity for the different types of mutations
THFs
Nonsense > missense > silent
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Orotic acid to UMP


24. what gene is implicated in fragile X syndrome - and What is the mutation
Dopa decarboxylase
Conversion of NE to epi
SNP
FMR1 gene - methylation - associated with chromosomal breakage


25. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Ile - phe - thr - trp
Acetyl - CoA
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Base + ribose + phosphate (3' -5') phosphodiester bond


26. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
African Americans and Asians
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Terminal regions - tropocollagen


27. Type I collagen
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Catabolic processes to carry reducing equivalents away as NADH
Proline and lysine - vit C
Bone - skin - tendon - dentin - fascia - cornea - late wound repair


28. What is the defect in fructose intolerance and What does it cause
Removal of N or C termal propeptides from zymogens to generate mature proteins
AR
CG- 3 > AT-2 - More CG content - melting point goes up
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting


29. What feedback inhibits hexokinase
Glucose -6 phosphate
Oligomycin
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle


30. What is proteasomal degredation
Tryptophan
Catabolic processes to carry reducing equivalents away as NADH
Mediates chylomicron secretion
Attachment of ubiquitin to defective proteins tag them for breakdown


31. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Lactate
III - joint dislocation - anuerysms - organ rupture
Von gierkes - glucose 6 phosphatase
ATP


32. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Deamination
Citrate - acetyl coa from mito to cyto
Avidin
Schwann cells - lens - retina - kidneys


33. what happens in acyl coa dehyrdogenase def
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Von hippel lindau - 3
Inc dicarboxylic acids - dec in glucose and ketones


34. What does vit C def cause
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Phenylalanine hydroxylase
Methionine encode by only 1 codon (AUG)
Vincritsine/vinblastine


35. Gene imprinting implies that How many alleles are active at a single locus
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
One
Coenzyme A - lipoamide
Miscarriage - stillbirth - chromosomal imbalance (down - patau)


36. What is linkage disequilibrium
Carbomoyl phosphate synthetase I
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Inc insulin - dec cAMP - dec PKA
Protein


37. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Familial hypercholesterolemia - hyperlipidemia type IIA
ATP hyrdolysis couple to energetically unfavorable rxns
Activates LCAT
Intermediate filaments


38. What does CATCH 22 stand for and What causes is...
UDP glucose pyrophosphorylase
Arginine
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Fed


39. What does the start codon code for in eukaryotes and prokaryotes
Eu - methionine - pro - formyl - methionine
Terminal regions - tropocollagen
Catabolic processes to carry reducing equivalents away as NADH
By inhibiting formation of the initiation complex and cause misreading of mRNA


40. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation


41. What can vit B3 be used to treat
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Kwashiorkor - small child with swollen belly
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Hyperlipidemia


42. protein malnutrition resulting in skin lesions - edema and liver malfxn
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Kwashiorkor - small child with swollen belly
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Secretion of abnl thick mucus that plugs lungs - pancreas - liver


43. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Fibrofatty replacement of muscle - cardiac myopathy
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Tryosine hydroxylase


44. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Achondroplasia
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response


45. What can excess vit B3 cause
Actin and myosin
APRT + PRPP
Facial flushing
B100


46. What is the RDE of de novo purine synthesis
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Glutamine PRPP amidotransferase
P+q = 1
Regulatory proteins that control cell cycle events; phase specific; activate CDKs


47. What is the RDE of glycogenolysis
Supply sufficient glucose to brain and RBCs and to preserve protein
Glycogen phosphorylase
Four
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly


48. What 3 steps in RNA processing occur after transcription

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49. What happens with wet beriberi
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Initiate chains
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
High output cardiac failure - dilated cardiomyopathy - edema


50. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Niacin - constituent of NAD and NADP - derived from tryptophan
Accelearted muscle breakdown
Foliage - small reserve in liver - eat green leaves
Inc vit B6