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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 happens in the first stage of collagen synthesis - and Where does it happen
Assistance of upper extremities to stand up
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
ATP - citrate

2. What are ketone bodies made from - where are they metabolized and how are they excreted
Kidney - ears - eyes
30 - glycerol -3- phosphate shuttle
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
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

3. What induces pyruvate kinase
Only processed RNA
Base + ribose
F16BP
Chylomicrons

4. What apolipoprotein is on LDL
B100
Acetyl - CoA
Debranching enzyme
Same as sprint + OXPHOS

5. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Q -
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

6. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
FAP
O- oligosaccharaides
Result from phagocytic removal of heinz bodies my macs - G6PD def

7. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Intermediate filaments
Oxalacetate
Oxidized hemoglobin precipiated within RBCs
Skin

8. What are the clinical features of I cell diesase
Fasting
5' of the incoming nucleotide
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Methionine encode by only 1 codon (AUG)

9. How is vit D stored
25OHD3
5' to 3'
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Promotor - TATA box - and CAAT box - AT rich

10. congenital microdeletion of short arm of chromosome 5 with microcephaly - moderate to severe mental retardation - high pitched crying/meying - epicanthal folds - cardiac abnl
Dopa decarboxylase
Cri du chat
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

11. Where is EtOH dehydrogenase located
APKD1 on chromosome 16
HVA
Cytosol
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

12. How do aminoglycosides work
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
CAG - 4
Phenylalanine hydroxylase
By inhibiting formation of the initiation complex and cause misreading of mRNA

13. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Fibroblast
Oxidative and nonoxidative - no ATP produced or used
Cyclin dependent kinases;constitutive and inactive
Mediates extra remnant take up

14. What are the fetal screening measures for Down
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Makes RNA primer on which DNA poly III can initiate replication
MRNA - tRNA
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

15. I g fat = ? Kcal
Each codon specifies only 1 amino acid
Nine
Promotor - TATA box - and CAAT box - AT rich
NF2 on chromosome 22

16. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Krabbes - galactocerebrosidase - galactocerebroside - AR
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Glutamate

17. nucleotide repeat for fragile x
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
CGG
Collagen
Promotor - TATA box - and CAAT box - AT rich

18. How is orotic aciduria inherited
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
RRNA
AR

19. What enzyme converts adenine to AMP
APRT + PRPP
Grows slowly - collapses quickly
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Cytosol - F 1 -6 BP to fructose 6 Phosphate

20. What is the TX for CF and What does it do
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
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
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

21. Which antihelminthe drugs work on microtubules
Base + ribose
Phosphorylation - glycosylation - hydroxylation
Mebendazole/thiabendazole
Cofactor for LPL

22. Type I bone
Neg to pos
Two
Antioxidant - protects RBCs and membrances from free radical damage
BOne

23. What converts limit dextran to glucose
Debranching enzyme
Dermatitis - alopecia - enteritis
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

24. When does aspartate enter the urea cycle
After citruline
Palate - facial and cardiac defects
Cleft palate - cardiac abnl - pregs test
Base + ribose

25. What happens to glycogen in the liver
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Proline and glycine (non glycosylated forms)
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

26. What is the fxn of vit K
Conversion of NE to epi
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Phenytoin - MTX - and sulfonamides
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

27. What enzyme converts phenylalanine to tyrosin
Alanine
Phenytoin - MTX - and sulfonamides
Fibroblast
Phenylalanine hydroxylase

28. What is the amino acid precuror for creatine - urea and nitric oxide
Nature and severity of phenotype vary from 1 individual to another - NF type 1
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
Arginine
17 - 17 letters in von Recklinghausen

29. What are the results of unbalanced translocation
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
IMP precursor
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
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

30. What makes up a nucleotide

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31. What are the products for glycolysis
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
MEN - 2A and 2B with ret gene
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

32. ADPKD is associated with What additional conditions
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Adds an inorganic phosphate onto substrate without using ATP
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Elastase - inhibited by alpha1 antitrypsin

33. What is proteasomal degredation
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
Attachment of ubiquitin to defective proteins tag them for breakdown
FISH
P2 +2pq+ = 1

34. How many rings do pyrimidines have
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
Elastase - inhibited by alpha1 antitrypsin
1 ring
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

35. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Cofactor for LPL
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Infection - free radicals generated by inflammatory response
Ca/calmodulin in muscle to coordinate with muscle activity

36. What are uncoupling agents
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
G6PD
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
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

37. Where is glucose 6 phosphatase found and What does it do
Glutamate
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Stop codon is recognized by release factor - and completed protein is released from ribosome
In ER - glucose 6- P to glucose

38. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Alpha - ketoglutarate dehydrogenase complex
Particular sequence of DNA where replicatino begins - may be single of multiple
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

39. What is uniparental disomy
Phenytoin - MTX - and sulfonamides
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Fibroblast
Inhibits 50S peptidyltransferase

40. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Type II
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Glycogen and FFA oxidation; glucose conserved for final sprinting

41. What are the symptoms of vit A excess
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
Williams syndrome
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Malabsorption and steatorrhea (ADEK)

42. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Wobble

43. The pyruvate dehydorgenase complex serves In what reaction: reactants
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Pyruvate - NAD+ - CoA
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Lariat shape in order and remove intron precisely and join 2 exons

44. Type IV collagen is an important structural componenet of the BM for which 3 organs
L form
Kidney - ears - eyes
Acetly- CoA - CO2 - NADH
DTMP

45. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Proline and lysine - vit C
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Q -
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

46. 90% of ADPKD cases are due to a mutation In what gene
Seals.
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Blood - bone marrown - amniotic fluid - placental tissue
APKD1 on chromosome 16

47. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Citrate - acetyl coa from mito to cyto
Inc melt - dec fluidity

48. How does ouabain work
Inhibits the Na/K pump by binding the K side
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
RER
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

49. What does arsenic do and What are th results of poisoning
Marasmus - muscle wasting
Coenzyme A - lipoamide
Glycogen phosphorylase
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

50. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Schilling test
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Microarrays
Result from phagocytic removal of heinz bodies my macs - G6PD def