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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 activated carrier for electrons
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Fructose 1 -6 bisphosphate
Kidney - ears - eyes
NADH - NADPH - FADH2

2. What causes B12 def
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Collagen
Unwinds DNA template at replcation fork
Attachment of ubiquitin to defective proteins tag them for breakdown

3. What does lipoprotein lipase do
RER
RRNA
Degredation of TG circulating in chylomicrons and VLDLs
Robertsonian translocation and mosaicism

4. How are the many staggered tropocollagen molecules reinforced
Tryosine hydroxylase
Histidine
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
Covalent cross - linking by lysyl oxidase to make collagen fibrils

5. What does the ELISA test for
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
1 kind with multiple subunits
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

6. pyruvate carboxylase catalyzes what rxn
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Glycine - aspartate - glutamine
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Pyruvate to oxaloacetate (3C to 4C)

7. How does cytosine become uracil
FISH
Deamination
APC on chromosome 5
Familial hypercholesterolemia - hyperlipidemia type IIA

8. What is the TX for PKU
Deamination
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

9. RNA poly can't proofread - but What can it do
MEN - 2A and 2B with ret gene
Glycogenolysis to form glucose
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Initiate chains

10. What enzyme adds Cl - to the H202 to makes bleach
Myeloperoxidase
Glycogen phosphorylase
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Phenylalanine hydroxylase

11. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
CFTR gene - 7 - Phe 508
Von Gierke's - Pompe - Cori - McArdle
Disease
Tuberous sclerosis

12. What are the fat soluble vitamins and What does their absorption depend on...
Robertsonian translocation and mosaicism
Alanine
Carbomoyl phosphate synthetase I
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

13. Do balanced translocations cause abnl phenotype
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
1 -25 OH2 D3 = calcitriol
Ribos first then deoxyribos with ribonucleotide reductase
No

14. What is the result of vit B5 def
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Phenytoin - MTX - and sulfonamides
Tropoelastin with fibrillin scafolding
Poly A polymerase - signal is AAUAA

15. What does Citrate Is Krebs starting substrate for making oxaloacetate
Poly A polymerase - signal is AAUAA
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Cartilage - hyaline - vitreous body - nucleus pulposus
Phenylketones in urine

16. What is a missense mutation
THFs
Changed AA (convservative - new AA is similar in chemical structure)
FAP
UDP glucose pyrophosphorylase

17. What is the energy source for tRNA actication (charging)
L form
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
ATP
Four

18. Which phase of the HMP shunt is reversible and Which is irreversible
Dopamine beta hydroxylase
F16BP
Sulfation
Oxidative is irreversible

19. What are the physical findings of fragile x syndrome
Alpha1 antitrypsin
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

20. What does a northern blot use as its sample
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
Cyclin dependent kinases;constitutive and inactive
RNA
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

21. What is the results of vit B1 def
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
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

22. What is maternal PKU
Fructose 1 -6 bisphosphate
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Von Gierke's - Pompe - Cori - McArdle

23. What are the complications/signs of familial hypercholesterolemia
Same as sprint + OXPHOS
Must be both activated and inactivated for cell cycle to progress
Oxidative is irreversible
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

24. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
FAP
Kwashiorkor - small child with swollen belly
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Hypoxanthine to xanthing and xanthine to uric acid

25. What does apoE do
ATP hyrdolysis couple to energetically unfavorable rxns
APKD1 on chromosome 16
Mediates extra remnant take up
Each codon specifies only 1 amino acid

26. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Ribose 5- P to PRPP
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
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
Two

27. What does hepatic TG lipase do
No - its non homologous
Degradation of TG remaining in IDL
ATP
Ile - phe - thr - trp

28. What are the names and sources of the two types of vit D found in nature
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Post to neg
Lariat shape in order and remove intron precisely and join 2 exons
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

29. Which are the acidic amino acids
IMP precursor
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Phosphorylation - glycosylation - hydroxylation
Asp and Glu

30. What is used to diagnose muscular dystrophies
Inc CPK and muscle biopsy
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

31. What does the golgi assemble proteoglycans from
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
THFs
Degredation of dietary TG in small intestine
Core proteins

32. What does SAM do
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Oxidative and nonoxidative - no ATP produced or used
Transfers methyl units
Methionine encode by only 1 codon (AUG)

33. What is the smallest mutation a mircoarray can detect
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
SNP
Inc dicarboxylic acids - dec in glucose and ketones
Catabolic processes to carry reducing equivalents away as NADH

34. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
CAG - 4
Inhibits RNA polymerase II - found in death cap mushrooms
Marfans
B6

35. What are the only purely ketogenic amino acids
2pq
Lysine and leucine
After day 1
Griseofulvin

36. What apolipoprotein is on LDL
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
B100
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR

37. What are the clinical features of I cell diesase
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Infection - free radicals generated by inflammatory response
Unmethylated - newly synthesized - HNPCC

38. Why can't muscle produce in gluconeogenesis
Lacks glucose 6 phophatase
HDL
Lysine and leucine
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

39. In what cell is collagen synthesis initiated
Type II
9+2 arrangement of microtubules
Exercise: inc NAD/NADH - inc ADP - inc Ca
Fibroblast

40. In eukaryotes - What does RNA poly II make
MRNA
Alpha 1 -6 and alpha 1 -4
Degradation of TG stored in adipocytes
Wobble

41. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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42. What causes Hartnup's disease
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
CAG
ATP
Removes phosphate group from substrate

43. What is the activated carrier for phosphoryl
Schilling test
UDP glucose pyrophosphorylase
Q -
ATP

44. characterize x linked dominant
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Proline and lysine - vit C
30 - 50 - 70

45. What happens in hyperammonemia
30 - glycerol -3- phosphate shuttle
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Uses ATP to add high energy phophate group onto substrate

46. What clotting factors require vit K
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Orotic acid to UMP
They yield only acetyl - CoA equivalents
II - VII - IX - X (1972) protein C and S

47. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Inc glucagon - inc cAMP - inc PKA
Grows slowly - collapses quickly
LCAT (lecithin cholesterol acyltransferase)
Glycogenolysis to form glucose

48. What catacholamine step is SAM required for
Adenosine to inosine
Seals.
DsRNA promotes degradation of target mRNA knocking down gene expression
Conversion of NE to epi

49. Type IV BM
Core proteins
B6
4 under the floor
Dopa decarboxylase

50. What enzyme becomes essential in PKU
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Binds 50S - blocking translocation
Tyrosine
Sulfation