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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 smallest mutation a mircoarray can detect
Mutated dystrophin gene - less severe - adolescence
Silencers
Four
SNP

2. What is the Name and function of vit B2
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
3' end (with CCA)
Tropoelastin with fibrillin scafolding
Exercise: inc NAD/NADH - inc ADP - inc Ca

3. What is the breakdown product of dopamine
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
HVA
P2 +2pq+ = 1
FAP

4. What are the two possible causes of albinism
FISH
Alanine
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Alcohol version of glucose - can trap glucose in cell - aldose reductase

5. What is the RDE of de novo purine synthesis
Alanine
25OHD3
Glutamine PRPP amidotransferase
Cleft palate - cardiac abnl - pregs test

6. What initiates protein synthesis
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Coenzyme A - lipoamide
Mitochondria
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

7. What are the results of unbalanced translocation
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
NADH - NADPH - FADH2
High output cardiac failure - dilated cardiomyopathy - edema

8. What are the findings in orotic aciduria
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Cre - lox system
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

9. Where do you find elastin and What does it do
Inhibits the Na/K pump by binding the K side
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Ile - phe - thr - trp
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

10. What is the name is fxn of vit B3
Niacin - constituent of NAD and NADP - derived from tryptophan
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
Avidin
Flagella - cilia - mitotic spindles

11. What catacholamine step is SAM required for
Conversion of NE to epi
30 - 50 - 70
Creat a nick in the helix to relieave supercoils created during replication
Isocitrate dehydrogenase

12. What converts DOPA to dopamine
Cytosol - F 1 -6 BP to fructose 6 Phosphate
OTC has hyperammonemia - orotic aciduira does not
Core proteins
Dopa decarboxylase

13. What liberates glucose from glucose 6 P
Karyotyping
Vit K antagonist
Glucose 6 phosphatase
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

14. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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15. What order kinetics does EtOH dehydrogenase have
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Zero
Glucose - 2Pi - 2ADP - 2NAD+
Must be both activated and inactivated for cell cycle to progress

16. What is the defect in II A familial hypercholesterolemia
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
5' of the incoming nucleotide
Carbomoyl phosphate synthetase II
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

17. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Stored ATP - creatine phosphate - anaerobic glycolysis
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Krabbes - galactocerebrosidase - galactocerebroside - AR
Nonsense > missense > silent

18. What are the 4 assumption of the Hardy Weinberg law
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Proline and lysine - vit C
Flank pain - hematuria - HTN - progressive renal failure

19. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
HDL
Cartilage - hyaline - vitreous body - nucleus pulposus
Ribos first then deoxyribos with ribonucleotide reductase
Site of steroid synthesis and detoxification of drugs and poisons

20. In a marathon Where does energy come from
TRNA
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Glycogen and FFA oxidation; glucose conserved for final sprinting
NAD+

21. What is the results of vit B1 def
Pyruvate to oxaloacetate (3C to 4C)
Kwashiorkor - small child with swollen belly
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

22. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
APRT + PRPP
Paclitaxel
32 - malate aspartate shuttle

23. What is the RDE of the urea cycle
Binds 50S - blocking translocation
Inhibits RNA polymerase II - found in death cap mushrooms
After day 1
Carbomoyl phosphate synthetase I

24. What is the breakdown product of NE
One
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
VMA
IMP precursor

25. What is loss of heterozygosity and give an example
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Same AA - often base change in 3rd position of codon (tRNA wobble)

26. What are the irreversible enzymes of gluconeogenesis
Medial dorsal nucleus of thalamus - mamillary bodies
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Mucus secreting globlet cells and antibody secreting plasma cells
Conversion of NE to epi

27. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
CGG
CG- 3 > AT-2 - More CG content - melting point goes up
FAP
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

28. What are the products for glycolysis
Fructose 1 -6 bisphosphate
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Removes phosphate group from substrate
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

29. What is the composition of urea and where do each part derive from
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
UGA - UAA and UAG
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Bind 30s subunit preventing attachment of aminoacyl - tRNA

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

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31. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
DTMP
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Familial hypercholesterolemia - hyperlipidemia type IIA

32. Type I collagen
CGG
Microarrays
Creat a nick in the helix to relieave supercoils created during replication
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

33. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Mitochondria
Type II
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Only processed RNA

34. What CETP do
Cartilage - hyaline - vitreous body - nucleus pulposus
Four
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Wernicke - korsakoff - dry and wet beriberi

35. How do labile celss grow and regenerate and What are examples
Ketone - methyl
Same AA - often base change in 3rd position of codon (tRNA wobble)
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Protein

36. What does degenerate/rundant genetic code refer to...
More than 1 codon may code for the same amino acid
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
HGPRT - defective purine salvage - excess uric acid production
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

37. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
Superoxide dismutase
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Glycogen and FFA oxidation; glucose conserved for final sprinting

38. What form of amino acids are found in proteins
FISH
L form
Rb and p53
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

39. How is ammonium transported from muscle to the liver for urea cycle
Oxidative and nonoxidative - no ATP produced or used
Foliage - small reserve in liver - eat green leaves
After citruline
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

40. What are the functinos of vitamin A
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
ATP
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Prevent strands from reannealing

41. What is uniparental disomy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Oxalacetate
DTMP
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

42. How do microtubules grow and collapse
Methionine encode by only 1 codon (AUG)
Active secretion in lungs and GI - reabsorbs in skin
Grows slowly - collapses quickly
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

43. What causes Edwards syndrome and What is it
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Alkaptonuria - may have debiliating arthralgias
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
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

44. What does an umabiguous genetic code refer to...
Kwashiorkor - small child with swollen belly
Dec methionine - inc cystiene - inc B12/folate
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Each codon specifies only 1 amino acid

45. What tissues have only aldose reductase
HGPRT - defective purine salvage - excess uric acid production
Skin
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Schwann cells - lens - retina - kidneys

46. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
NADH - NADPH - FADH2
B100 and E
TTP
Alpha - ketoglutarate dehydrogenase complex

47. What metabolic rxns occur in both the cytoplasm and mitochondria
Infection - free radicals generated by inflammatory response
Isocitrate dehydrogenase
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

48. what happens in acyl coa dehyrdogenase def
Superoxide dismutase
Disorder of aromatic amino acid metabolism
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Inc dicarboxylic acids - dec in glucose and ketones

49. ADPKD is associated with What additional conditions
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Phenylalanine
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

50. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
Kwashiorkor - small child with swollen belly
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
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
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood