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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 DNA poly III do?

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2. 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
Phenylethamolamine N methyl transferase
No - its non homologous
Skin

3. What does the ELISA test for
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

4. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
EtOH dehydrogenase and acetaldehyde dehydrogenase
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Alanine

5. caf
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
VLDL
Neurofibromatosis type 1 (von Recklinghausens disease)
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death

6. What 3 steps in RNA processing occur after transcription

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7. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Cri du chat
Uses ATP to add high energy phophate group onto substrate
Infection - free radicals generated by inflammatory response
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

8. What are the physical findings of fragile x syndrome
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Proline and glycine (non glycosylated forms)
Skin
ATP and methionine

9. What is the RDE of gluconeogenesis
Ribose 5- P to PRPP
Fructose 1 -6 bisphosphate
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

10. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Orotic acid to UMP
CGG
Locus heterogeneity - ocular albinism is x- linked recessive

11. What converts limit dextran to glucose
Tropoelastin with fibrillin scafolding
Asp and Glu
Debranching enzyme
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

12. What are covalent alterations
Phosphorylation - glycosylation - hydroxylation
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
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE

13. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Phenylalanine
Degradation of TG stored in adipocytes
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Core proteins

14. How many rings do purines have
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
2 rings
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

15. How is Lesch Neyhan inherited
UDP glucose pyrophosphorylase
X- linked recessive
Locus heterogeneity - ocular albinism is x- linked recessive
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

16. What are the results of CF on male fertility
Von Gierke's - Pompe - Cori - McArdle
Males are infertile due to bilateral absence of vas deferens
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Defect in fibrillin

17. What does amino acid catabolsim results in the formation of what?
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Proline and glycine (non glycosylated forms)
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

18. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

19. What is the exception to genetic redundancy
Antibiotic use or excessive ingestion of raw eggs
Free ribosomes
Methionine encode by only 1 codon (AUG)
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

20. What are the fat soluble vitamins and What does their absorption depend on...
HMG- CoA reductase
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Malonyl coa

21. What are the complications/signs of familial hypercholesterolemia
Lysine and leucine
OTC has hyperammonemia - orotic aciduira does not
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Phenylalanine

22. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Hyperlipidemia
UDP glucose pyrophosphorylase
Proline and lysine - vit C
HDL

23. FAP is due to deletion On what gene On what chromosome
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
APC on chromosome 5
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

24. What metabolic rxns occur in the cytoplasm
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
X- linked recessive
Defect in fibrillin
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

25. What apolipoprotein is on LDL
B100
Marasmus - muscle wasting
Glucose -6 phosphate
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

26. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Familial hypercholesterolemia - hyperlipidemia type IIA
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Uses ATP to add high energy phophate group onto substrate
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

27. How does OTC def present
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
Carnitine shuttle - acyl - coa from cyto to mito
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
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

28. NADPH are used In what 4 things
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
HMG- CoA synthase
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

29. The pyruvate dehydrogenase complex serves In what reaction: products
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Inc melt - dec fluidity
Schilling test
Acetly- CoA - CO2 - NADH

30. 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
Same as sprint + OXPHOS
Von hippel lindau - 3
Wobble
Williams syndrome

31. What is the fxn of vit D
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
B12 and folate
30 - 50 - 70
Adds an inorganic phosphate onto substrate without using ATP

32. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
Palate - facial and cardiac defects
Degradation of TG remaining in IDL
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

33. What is imprinting and give an example

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34. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
HDL
More than 1 codon may code for the same amino acid
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
AR

35. What catacholamine step is SAM required for
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Conversion of NE to epi
In ER - glucose 6- P to glucose
Disease

36. What is the origin of replication
Achondroplasia
Adenosine to inosine
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Particular sequence of DNA where replicatino begins - may be single of multiple

37. What is the TX for hyper ammonemia
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Citrate - acetyl coa from mito to cyto
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin

38. What tissues have only aldose reductase
Inhibits the Na/K pump by binding the K side
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Schwann cells - lens - retina - kidneys
Catabolic processes to carry reducing equivalents away as NADH

39. What are CDKs
Mitochondria
Procollagen - triple helix of 3 alpha collagen chains
Neurofibromatosis type 1 (von Recklinghausens disease)
Cyclin dependent kinases;constitutive and inactive

40. Gene imprinting implies that How many alleles are active at a single locus
One
Glycolysis and aerobic respiration
Cofactor for LPL
Phenylalanine hydroxylase

41. What does glycosylation of pro alpha chian yield and What is the structure
Tyrosine
Procollagen - triple helix of 3 alpha collagen chains
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
DNA

42. What does a dehydrogenase do
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Males are infertile due to bilateral absence of vas deferens
CTG
Oxidizes substrate

43. What does hartnups disease cause
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Fed
NAD+
Secretion of abnl thick mucus that plugs lungs - pancreas - liver

44. What is the RER called in neurons and What is made there
Nissl body - enzyme and NTs
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Schilling test

45. What does lactase deficiency cause
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Adds 2 carbon with the help of biotin
2pq

46. What is NAD+ generally used for
Base + ribose + phosphate (3' -5') phosphodiester bond
Tropoelastin with fibrillin scafolding
Methionine encode by only 1 codon (AUG)
Catabolic processes to carry reducing equivalents away as NADH

47. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Microarrays

48. What causes Marfan syndrome
Thymic - parathyroid and cardiac
Defect in fibrillin
Stop codon is recognized by release factor - and completed protein is released from ribosome
Oxidative and nonoxidative - no ATP produced or used

49. nucleotide repeat for fragile x
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Oxidized hemoglobin precipiated within RBCs
CGG

50. What is the function of folic acid
Night blindness - dry skin
Failure to track objects or develop a social smile
B-100 - CII and E
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA