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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 lipoprotein lipase do
Oligomycin
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
FAP
Degredation of TG circulating in chylomicrons and VLDLs

2. What neuroanatomical strutures are injured in wernicke - korsakoff
Cofactor for LPL
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Medial dorsal nucleus of thalamus - mamillary bodies
SNP

3. What is the initial transcript called and What is the capped and tailed transcript called
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
NADH - NADPH - FADH2
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

4. What are the findings in Down's syndrome
NADH - NADPH - FADH2
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
Cri du chat
Degredation of dietary TG in small intestine

5. What is mosaicism and give an example
Met - val - arg his
Result from phagocytic removal of heinz bodies my macs - G6PD def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females

6. What are the fat soluble vitamins and What does their absorption depend on...
Pyruvate to oxaloacetate (3C to 4C)
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
VLDL
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

7. Which antifungal drugs work on microtubules
Met - val - arg his
Griseofulvin
Essential fructosuria - fructokinase AR
30 - glycerol -3- phosphate shuttle

8. caf
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Neurofibromatosis type 1 (von Recklinghausens disease)
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
UGA - UAA and UAG

9. What does apoE do
Mediates extra remnant take up
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)
High output cardiac failure - dilated cardiomyopathy - edema
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

10. Describe the structure of cilia
9+2 arrangement of microtubules
Metanephrine
Lysine and arginine
Heterochromatin = HighlyCondensed

11. What is NADPH's role inside RBCs
Each codon specifies only 1 amino acid
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Superoxide dismutase
Keep glutathione reduced so it can detoxify free radicals and peroxides

12. What are the 4 assumption of the Hardy Weinberg law
THFs
Microtubules
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

13. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Oligomycin
Phenylketones in urine
P+q = 1
Grows slowly - collapses quickly

14. What is uniparental disomy
Arginine
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
ATP - citrate
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

15. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Arg and his inc in histones Which bind negatively charged DNA
Achondroplasia
Von gierkes - glucose 6 phosphatase
Glycogenolysis to form glucose

16. What is the exception to genetic redundancy
ATP
Cleft palate - cardiac abnl - pregs test
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Methionine encode by only 1 codon (AUG)

17. Which end of the tRNA is the amino acid bound to...

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18. Why is G6PD def more common among patients of african decent
Ribos first then deoxyribos with ribonucleotide reductase
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Protective against malaria
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

19. How is ammonium transported from muscle to the liver for urea cycle
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
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
Enhancers
9+2 arrangement of microtubules

20. Where are FADH2 electrons transferred to...
Oxalacetate
Binds to LDL receptor - mediates VLDL secretion
Glycogen synthase
Comlex II

21. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Glucose - 2Pi - 2ADP - 2NAD+
Histidine
Ribos first then deoxyribos with ribonucleotide reductase

22. What is the Name and fxn of vit B5
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Alpha 1 -6 and alpha 1 -4
P2 +2pq+ = 1
Krabbes - galactocerebrosidase - galactocerebroside - AR

23. How many ATP are produced by anearobic glycolysis per molecule of glucose
Two
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Unmethylated - newly synthesized - HNPCC
Blood - bone marrown - amniotic fluid - placental tissue

24. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
GAA
Rb and p53
Cleft palate - cardiac abnl - pregs test
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

25. What is the TX for hyper ammonemia
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Stored ATP - creatine phosphate - anaerobic glycolysis
After citruline

26. What step begins the urea cycle and What is the enzyme needed - Where does it happen
Pyruvate to oxaloacetate (3C to 4C)
Protein kinase A
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

27. What are the characteristics of angelmans syndrome and How does it occur
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
B100
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
1 -25 OH2 D3 = calcitriol

28. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Liver - also in kidney and gut epithelium
30 - glycerol -3- phosphate shuttle
Makes RNA primer on which DNA poly III can initiate replication
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

29. What is the fxn of vit E
Antioxidant - protects RBCs and membrances from free radical damage
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Inc glucagon - inc cAMP - inc PKA
Mcardle's - skeletal muscle glycogen posphorylase

30. How many rings do pyrimidines have
Oral uridine administration
Free ribosomes
1 ring
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

31. What tissue samples are used for karyotyping
Blood - bone marrown - amniotic fluid - placental tissue
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

32. What substance in egg whites binds biotin
APC on chromosome 5
Protein
Avidin
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

33. What happens to oxaloacetate in alcholism
Alpha and beta tubulin - dimers have two GTP bound
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
PCR - denaturation - annealing - elongation

34. What induces pyruvate kinase
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
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
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
F16BP

35. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Vincritsine/vinblastine
Sulfation
Microarrays
Alpha - ketoglutarate dehydrogenase complex

36. Type III collagen
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
B12 and folate
Krabbes - galactocerebrosidase - galactocerebroside - AR

37. What is the RDE of the urea cycle
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Rotenone - CN- - antimycin A - CO
Carbomoyl phosphate synthetase I
CAG - 4

38. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
SAM
CFTR gene - 7 - Phe 508
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
NADH - NADPH - FADH2

39. What enzyme degrades a small amount of glycogen in lysosomes
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Alpha 1 -4 glucosidase
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
25OHD3

40. Type I collagen
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
UGA - UAA and UAG
Antioxidant - protects RBCs and membrances from free radical damage
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

41. What does degenerate/rundant genetic code refer to...
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Pyruvate - NAD+ - CoA
More than 1 codon may code for the same amino acid

42. Which direction does kinesin go
Cofactor for LPL
Neg to pos
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
Polycystic liver disease - berry aneurysm - mitral valve prolapse

43. What is variable expression and What is an example
Kwashiorkor - small child with swollen belly
Phenylketones in urine
Changed AA (convservative - new AA is similar in chemical structure)
Nature and severity of phenotype vary from 1 individual to another - NF type 1

44. What happens in folate def
Exons
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
RRNA
30 - glycerol -3- phosphate shuttle

45. What substances are uncouling agents
Neuralgia
Neg to pos
2 -4 DNP - aspirin
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

46. What clotting factors require vit K
Particular sequence of DNA where replicatino begins - may be single of multiple
Liver - ovaries - seminal vesicles
II - VII - IX - X (1972) protein C and S
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

47. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Sulfation
X linked frame shif mutation
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

48. What are the fetal screening measures for Down
Alpha1 antitrypsin
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

49. What does fomepizole do
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Wobble

50. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Alpha 1 -4 glucosidase
Same AA - often base change in 3rd position of codon (tRNA wobble)
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Marasmus - muscle wasting