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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. Which direction does dynein go
ATP
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Post to neg
P+q = 1

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

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3. Which aspect of the spliceosome do patients with lupus make antibodies against
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Antibiotic use or excessive ingestion of raw eggs
SnRNPs
Leu - lys

4. How is orotic aciduria inherited
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Result from phagocytic removal of heinz bodies my macs - G6PD def
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
AR

5. What are possilbe presentation for galactokinase def
Failure to track objects or develop a social smile
Phosphofructokinase 1
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Ile - phe - thr - trp

6. Which amino acids are elastin rich in
Proline and glycine (non glycosylated forms)
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Euchromatin
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

7. What does apoB48 do
Proton gradient
Acetyl - CoA to malonyl - CoA (2C to 3C)
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Mediates chylomicron secretion

8. What are covalent alterations
Prevent strands from reannealing
Glucose - 2Pi - 2ADP - 2NAD+
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Phosphorylation - glycosylation - hydroxylation

9. What initiates protein synthesis
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Dermatitis - alopecia - enteritis
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

10. What converts dopamine to NE
PCR - denaturation - annealing - elongation
Dopamine beta hydroxylase
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Rotenone - CN- - antimycin A - CO

11. What happens do glycogen in skeletal muscle during exercise
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Glycogenolysis to form glucose
Inhibit DNA gyrase specific for prokaryotic topoisomerase

12. What is kartageners syndrome
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Degradation of TG stored in adipocytes
Promotor - TATA box - and CAAT box - AT rich

13. What is the energy source for translocation
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Mediates extra remnant take up
GTP

14. How does patients present with ADPKD
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
CG- 3 > AT-2 - More CG content - melting point goes up
Alpha1 antitrypsin
Flank pain - hematuria - HTN - progressive renal failure

15. What is the prevalence of an X- linked recessive disease in males and in females
L form
Q -
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Palate - facial and cardiac defects

16. delivers hepatic TGs to peripheral tissue - secreted by liver
Inc CPK and muscle biopsy
Glutamate
VLDL
Alpha 1 -4 glucosidase

17. What are the fetal screening measures for Down
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
Pyruvate to oxaloacetate (3C to 4C)
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
MRNA - tRNA

18. What substances induce phosphofructokinase
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
AMP - fructose 2 -6 BP
CGG
Not all individuals with a mutant genotype show the mutant phenotype

19. What causes Marfan syndrome
Defect in fibrillin
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
FISH
Avidin

20. Acetyl - CoA carboxylase catalyzes what rxn
Result from phagocytic removal of heinz bodies my macs - G6PD def
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Acetyl - CoA to malonyl - CoA (2C to 3C)
AR

21. Type IV collagen is an important structural componenet of the BM for which 3 organs
Adenosine to inosine
Kidney - ears - eyes
Myeloperoxidase
Tryptophan

22. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
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
Nine
Tuberous sclerosis
MRNA - tRNA

23. What does the start codon code for in eukaryotes and prokaryotes
75 to 90 - cloverleaf
Eu - methionine - pro - formyl - methionine
Glycine - aspartate - glutamine
Acetyl - CoA

24. In which state is PFK-2 active
Fed
Tuberous sclerosis
Four
FISH

25. What enzyme turns ROS to H2O2
Modifies N- oligosaccharides
Promotor - TATA box - and CAAT box - AT rich
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Superoxide dismutase

26. What does an umabiguous genetic code refer to...
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
Each codon specifies only 1 amino acid
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

27. What does Citrate Is Krebs starting substrate for making oxaloacetate
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Supply sufficient glucose to brain and RBCs and to preserve protein
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

28. What co - factors are required for the pyruvated dehydrogenase complex
Tryosine hydroxylase
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

29. Type III collagen
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Protein kinase A

30. What are the results of pancreatic insuff in CF
FMR1 gene - methylation - associated with chromosomal breakage
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Consesus sequenec of base pairs
Malabsorption and steatorrhea (ADEK)

31. What enzymes metabolize fatty acids and amino acids
Cofactor for LPL
Inc dicarboxylic acids - dec in glucose and ketones
Fed
Acetoacetate and beta hydroxybutyrate

32. What happens to glycogen in the liver
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
5' of the incoming nucleotide
Phosphofructokinase 1
2pq

33. Type II collagen
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Active secretion in lungs and GI - reabsorbs in skin
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Cartilage - hyaline - vitreous body - nucleus pulposus

34. How does cytosine become uracil
Deamination
Pyruvate - NAD+ - CoA
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Initiate chains

35. What polar group does guanine have - and what non polar group does thymine have
Locus heterogeneity - ocular albinism is x- linked recessive
Ketone - methyl
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
UDP glucose pyrophosphorylase

36. What CETP do
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Conversion of NE to epi
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

37. What is Retin A used topically for
Cartilage - hyaline - vitreous body - nucleus pulposus
Exons
Wrinkles and acne
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

38. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Pyruvate - NAD+ - CoA
Unwinds DNA template at replcation fork
X linked frame shif mutation
30 - glycerol -3- phosphate shuttle

39. What is the activated carrier for aldehyddes
One
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
TTP
Wobble

40. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
SAM
Ribos first then deoxyribos with ribonucleotide reductase
Acetly- CoA - CO2 - NADH
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

41. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Chylomicrons
Night blindness - dry skin
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Lariat shape in order and remove intron precisely and join 2 exons

42. What can vit B3 be used to treat
Alpha - ketoglutarate dehydrogenase complex
DTMP
Hyperlipidemia
B100 and E

43. Broadly - What can cause fat - soluble vitamin deficiencies
TRNA
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Malapsorption syndromes like sprue or CF or mineral oil intake

44. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Fibrofatty replacement of muscle - cardiac myopathy
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Inhibit DNA gyrase specific for prokaryotic topoisomerase
III - joint dislocation - anuerysms - organ rupture

45. What is the activated carrier for 1 carbon units
Prevent strands from reannealing
THFs
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Same as sprint + OXPHOS

46. How many rings do pyrimidines have
1 ring
Nature and severity of phenotype vary from 1 individual to another - NF type 1
ATP
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

47. What bone disorder has x linked dominant inheritance
BOne
Glucose -6 phosphate
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Unwinds DNA template at replcation fork

48. What does the mutation in the gene cause in protein synthesis
Acetly- CoA - CO2 - NADH
Abnormal protein folding - degradation before reaching cell surface
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
PCR - denaturation - annealing - elongation

49. Where is glucose 6 phosphatase found and What does it do
In ER - glucose 6- P to glucose
Locus heterogeneity - ocular albinism is x- linked recessive
Basement membrane or basal lamina
CarTWOlage

50. What enzyme does fructose metabolism bypass to reach glycolysis
Alanine
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
PFK - rate limiting enzyme
Free ribosomes