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Biochemistry

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1. What are the findings in orotic aciduria
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
Binds 50S - blocking translocation
HMG- CoA reductase
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

2. What is a missense mutation
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Each codon specifies only 1 amino acid
Changed AA (convservative - new AA is similar in chemical structure)
Rotenone - CN- - antimycin A - CO

3. What ribosomes do prokaryotes have
Transfers methyl units
Cre - lox system
B100 and E
30 - 50 - 70

4. What collagen type is most frequently affected in ehlers danlos and What are common complications
III - joint dislocation - anuerysms - organ rupture
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Elastase - inhibited by alpha1 antitrypsin
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

5. When does aspartate enter the urea cycle
After citruline
Dec methionine - inc cystiene - inc B12/folate
No
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

6. What is the structure of elastin
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
VLDL
Tropoelastin with fibrillin scafolding
More than 1 codon may code for the same amino acid

7. What is used to diagnose muscular dystrophies
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Flank pain - hematuria - HTN - progressive renal failure
Transfers methyl units
Inc CPK and muscle biopsy

8. What is the result of vit B5 def
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
BOne

9. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Elastase - inhibited by alpha1 antitrypsin
Scrutinizes - hydrolyzes the bond
75 to 90 - cloverleaf
Malabsorption and steatorrhea (ADEK)

10. What does a decrease in decrease in NADPH lead to and why
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Citrate - acetyl coa from mito to cyto
Inhibits the Na/K pump by binding the K side
RER

11. What is axonemal dynein
CTG
Blood - bone marrown - amniotic fluid - placental tissue
Oxidative and nonoxidative - no ATP produced or used
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

12. What is the hardy weinberg allele prevalence
Liver - also in kidney and gut epithelium
Oligomycin
P+q = 1
Cyclin dependent kinases;constitutive and inactive

13. What is the fxn of vit D
Glycogen phosphorylase
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
G6PD
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

14. What substances induce phosphofructokinase
Mutated dystrophin gene - less severe - adolescence
AMP - fructose 2 -6 BP
CTG
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

15. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Williams syndrome
CGG
Tryosine hydroxylase

16. What is a silent mutation
Same AA - often base change in 3rd position of codon (tRNA wobble)
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

17. What are the 4 assumption of the Hardy Weinberg law
After day 1
Q -
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

18. What two proteins make up microtubules and how are they arranged
More than 1 codon may code for the same amino acid
Alpha and beta tubulin - dimers have two GTP bound
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
Procollagen - triple helix of 3 alpha collagen chains

19. recurrent pulmonary infxns in CF are due to what organisms
Von Gierke's - Pompe - Cori - McArdle
FAP
Q -
Pseudomonas and s aureus

20. What metabolic rxns occur in the cytoplasm
Each codon specifies only 1 amino acid
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
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Stored ATP - creatine phosphate - anaerobic glycolysis

21. What is trimming
Tryptophan
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Removal of N or C termal propeptides from zymogens to generate mature proteins

22. What are the symptoms of vit A def
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Night blindness - dry skin
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

23. What is the Hardy Weinberg disease prevalence equation
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
P2 +2pq+ = 1
Tryosine hydroxylase

24. Which RNA poly opens DNA at promotor site
Adenosine to inosine
Heterochromatin = HighlyCondensed
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
RNA poly II

25. What 3 steps in RNA processing occur after transcription

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26. What do DNA topoisomerases do
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
N to C
Creat a nick in the helix to relieave supercoils created during replication
NADPH

27. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
1 kind with multiple subunits
Euchromatin
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
Mebendazole/thiabendazole

28. How is vit D stored
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
25OHD3
9+2 arrangement of microtubules
Deamination

29. What activates the pyruvate dehydrogenase complex
Inhibits RNA polymerase II - found in death cap mushrooms
FMR1 gene - methylation - associated with chromosomal breakage
Exercise: inc NAD/NADH - inc ADP - inc Ca
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

30. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
OTC has hyperammonemia - orotic aciduira does not
Covalent cross - linking by lysyl oxidase to make collagen fibrils

31. What form of amino acids are found in proteins
HGPRT - defective purine salvage - excess uric acid production
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
L form
4 under the floor

32. How does ouabain work
Inhibits the Na/K pump by binding the K side
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Dermatitis - enteritis - alopecia - adrenal insuff
Catabolic processes to carry reducing equivalents away as NADH

33. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Comlex II
Intermediate filaments
Locus heterogeneity - ocular albinism is x- linked recessive
75 to 90 - cloverleaf

34. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Males are infertile due to bilateral absence of vas deferens
Wernicke - korsakoff - dry and wet beriberi

35. What is the activated carrier for methyl groups
Dermatitis - enteritis - alopecia - adrenal insuff
Consesus sequenec of base pairs
SAM
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

36. What is the order of severity for the different types of mutations
Hypoglycemia
Carbomoyl phosphate synthetase II
Nonsense > missense > silent
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

37. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Inc vit B6
B100 and E
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

38. Where is vit B12 found
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
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
Inc Cl - in sweat
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

39. In what cell is collagen synthesis initiated
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Fibroblast
III - joint dislocation - anuerysms - organ rupture

40. What CETP do
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
TRNA
17 - 17 letters in von Recklinghausen

41. What converts limit dextran to glucose
Rb and p53
Coenzyme A - lipoamide
Debranching enzyme
Lactate

42. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Alpha 1 -6 and alpha 1 -4
Terminal regions - tropocollagen
TTP
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

43. How do you diagnose CFTR
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Inc Cl - in sweat
Neurons
Glucose 6 phosphate dehydrogenase (G6PD)

44. What enzymes metabolize fatty acids and amino acids
Acetoacetate and beta hydroxybutyrate
Glycine
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

45. Giving folate during early pregnancy is important to prevent what birth defects
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Neural tube
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

46. How do macrolides and clindamycin work
Males are infertile due to bilateral absence of vas deferens
Result from phagocytic removal of heinz bodies my macs - G6PD def
Binds 50S - blocking translocation
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

47. What enzyme converts adenine to AMP
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Deamination
APRT + PRPP
ATP and alanine

48. What shape does the RNA generate during splicing and why?
Tryosine hydroxylase
Glycogenolysis to form glucose
Lariat shape in order and remove intron precisely and join 2 exons
CGG

49. What is the target of the 3' hydroxyl attack
The triphosphate bond
B100 and E
Procollagen - triple helix of 3 alpha collagen chains
Makes RNA primer on which DNA poly III can initiate replication

50. What substance inside the cell reduces glutatione
Mitochondria
NADPH
Inc dicarboxylic acids - dec in glucose and ketones
Williams syndrome

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Biochemistry

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