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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 is the defectin IV - hypertriglyceridemia
Uses ATP to add high energy phophate group onto substrate
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Must be both activated and inactivated for cell cycle to progress

2. What is the defect in cystinuria
Lactate
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies

3. decreases In what substances can cause PKU
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Degradation of TG remaining in IDL
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA

4. What is the RDE of TCA cycle
2 -4 DNP - aspirin
Isocitrate dehydrogenase
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Removes phosphate group from substrate

5. What substances induce phosphofructokinase
AMP - fructose 2 -6 BP
Mediates chylomicron secretion
Fed
NADPH

6. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
II - VII - IX - X (1972) protein C and S
Cre - lox system
Locus heterogeneity - ocular albinism is x- linked recessive
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

7. what findings are associated with marfans
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Zero
Procollagen - triple helix of 3 alpha collagen chains
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

8. What is the Name and fxn of vit B5
Seals.
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

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

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10. What enzyme degrades a small amount of glycogen in lysosomes
TRNA
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Alpha 1 -4 glucosidase
Cri du chat

11. What 3 syndromes are associated with vit B1 def
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Wernicke - korsakoff - dry and wet beriberi
Essential fructosuria - fructokinase AR
Alanine

12. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Robertsonian translocation and mosaicism
DNA
LDL

13. What 3 steps in RNA processing occur after transcription

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14. What does apoB100 do
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Fasting
Modifies N- oligosaccharides
Binds to LDL receptor - mediates VLDL secretion

15. What are the characteristics of prader willi syndrome How does it occur
Carnitine acyltransferase I
Met - val - arg his
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Citrate - acetyl coa from mito to cyto

16. What is the activated carrier for Acyl
Mucus secreting globlet cells and antibody secreting plasma cells
F16BP
Makes RNA primer on which DNA poly III can initiate replication
Coenzyme A - lipoamide

17. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Prevent strands from reannealing
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Lariat shape in order and remove intron precisely and join 2 exons

18. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Karyotyping
HDL
Assistance of upper extremities to stand up

19. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
APRT + PRPP
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
B48 - AIV - CII - E
Alanine

20. What do the single stranded binding proteins do
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Prevent strands from reannealing
5' to 3'
Dopamine beta hydroxylase

21. What are the fat soluble vitamins and What does their absorption depend on...
Ribos first then deoxyribos with ribonucleotide reductase
Glucose -6 phosphate
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Bind 30s subunit preventing attachment of aminoacyl - tRNA

22. How does warfarin work
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Vit K antagonist
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected
Adds 2 carbon with the help of biotin

23. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Infection - free radicals generated by inflammatory response
APRT + PRPP
SAM
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

24. How do fluoroquinolones work
Degradation of TG remaining in IDL
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

25. What kind of branches do glycogen branches have
LCAT (lecithin cholesterol acyltransferase)
In ER - glucose 6- P to glucose
Glycogen synthase
Alpha 1 -6 and alpha 1 -4

26. What is a nonsense mutation
Makes RNA primer on which DNA poly III can initiate replication
Change resulting in early stop codon
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Metanephrine

27. What is the limiting reagent in EtOH metabolism
Silencers
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
NAD+
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

28. Why is albinism inheritnace varialbe due to...
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Arginine
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Locus heterogeneity - ocular albinism is x- linked recessive

29. What is chediak higashi
Pyruvate - NAD+ - CoA
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Only processed RNA

30. Which RNA poly opens DNA at promotor site
Tuberous sclerosis
Inc Cl - in sweat
RNA poly II
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

31. What is imprinting and give an example

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32. How does patients present with ADPKD
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Flank pain - hematuria - HTN - progressive renal failure
Methionine encode by only 1 codon (AUG)
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

33. What does the golgi add to serine and threonine residues
X- linked recessive
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
O- oligosaccharaides

34. When are glycogen reserves depleted
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
After day 1
RER

35. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Superoxide dismutase
Dermatitis - enteritis - alopecia - adrenal insuff
Marasmus - muscle wasting
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

36. Which direction does dynein go
Post to neg
B48 - AIV - CII - E
Neimann - pick - sphingomyelinase - sphingomyelin - AR
CAG

37. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
B100 and E
Heterochromatin = HighlyCondensed
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

38. trinucleotide repeat fo myotonic dystrophy
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
CTG
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

39. What is the treatment for orotic aciduria
Neither of 2 alleles is dominant - blood groups
Oral uridine administration
Must be both activated and inactivated for cell cycle to progress
Phosphofructokinase 1

40. What does cytokeratin stain for
SNP
CAG - 4
Epithelial cells
Adds an inorganic phosphate onto substrate without using ATP

41. What does apoA 1 do
Coenzyme A - lipoamide
Glycogen and FFA oxidation; glucose conserved for final sprinting
Site of steroid synthesis and detoxification of drugs and poisons
Activates LCAT

42. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
RNA poly II
Locus heterogeneity - ocular albinism is x- linked recessive
Myeloperoxidase
Von gierkes - glucose 6 phosphatase

43. caf
Result from phagocytic removal of heinz bodies my macs - G6PD def
Neurofibromatosis type 1 (von Recklinghausens disease)
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
CAG - 4

44. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Huntingtons
Nonsense > missense > silent
Phenylalanine hydroxylase
Protein

45. What is NADPH used for
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Orotic acid to UMP
Anabolic processes as a supply of reducing equivalents
Foliage - small reserve in liver - eat green leaves

46. Describe the replication fork
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Mucus secreting globlet cells and antibody secreting plasma cells
Fructose 1 -6 bisphosphate
Creat a nick in the helix to relieave supercoils created during replication

47. What are the two transgenic strategies in mice
Dermatitis - alopecia - enteritis
5' of the incoming nucleotide
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

48. What shuttle is involved in fatty acid synthesis and What does it move From where to where
1 ring
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Flank pain - hematuria - HTN - progressive renal failure
Citrate - acetyl coa from mito to cyto

49. What converts NE to epi
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Biotin
Phenylethamolamine N methyl transferase

50. What are possilbe presentation for galactokinase def
Locus heterogeneity - ocular albinism is x- linked recessive
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Failure to track objects or develop a social smile