Biology of Disease

  1. Causes of cell injury
    • Oxygen deprivation
    • Physical
    • Chemical
    • Infectious
    • Immune Reactions
    • Genetic
    • Nutritional
  2. Players in cell injury
    • ATP depletion
    • Calcium
    • membrane permeability
    • mitochondrial damage
    • Oxygen & reactive oxygen species
  3. A useful plasma contains these 3 features
    • origin of replication for DNA polymerase
    • antibiotic resistance gene
    • convenient site for DNA insertion
  4. What is subcloning
    recombining DNA fragments into a new plasmid vector
  5. What is transformation
    introducing a plasmid into E. coli such that it becomes a permanent fixture
  6. Why is an antibiotic resistance gene incorporated into the recombinant plasmid?
    To identify which bacteria took up the plasmid
  7. Steps of PCR
    • Denature DNA with heat
    • add primers to template DNA
    • add DNA polymerase to synthesize in a 5' to 3' direction
  8. Which type of vaccine replicates in the host
    modified live
  9. Steps in creating a DNA vaccine
    • 1. subclone gene for immunogenic protein (insert downstream from eukaryotic promoter)
    • 2. Transform e. coli with vector
    • 3. inject plasmid into the animal
    • 4. plasmid is taken up by muscle cells
    • 5. host cell expresses protein and antibodies are formed
  10. Advantages of a recombinant vaccine
    • safety (can't return to virulence)
    • DIVA (differentiate infected from vaccinated animals)
  11. West Nile virus gene put into a yellow fever virus is an example of
    chimeric flavivirus
  12. What enzymes serve as scissors and paste for recombinant molecules?
    • scissors = restriction enzymes
    • paste = DNA ligase
  13. how do you perform PCR on RNA?
    Convert it to a DNA template first with reverse transcriptase
  14. What is the Recombitek WNV vaccine?
    canarypox vectored vaccine
  15. What is Prevenile?
    yellow fever virus chimera vaccine
  16. What is Innovator WNV?
    formalin inactivated vaccine
  17. Why wouldn't e. coli be a good host for producing a rabies glycoprotein vaccine?
    E. coli cannot glycosylate proteins
  18. What is the difference between a chimera and a vector vaccine?
    • Vector: DNA is added to the genome
    • Chimera: DNA replaces a portion of the genome
  19. What is a subunit vaccine?
    recombinant protein
  20. Explain the concept of a recombinant protein
    a gene encoding the valuable protein is inserted into some type of host (expression system) and that host makes large amounts of the protein
  21. What is needed for a PCR? (5)
    • Template DNA
    • polymerase (heat stable)
    • nucleotide triphosphates
    • primers
    • buffers
  22. How is bovine somatotropin made by recombination?
    BST gene is inserted into a plasmid with a prokaryotic promoter and e. coli expresses it
  23. How are transgenic mammals produced?
    inject the transgene into a one celled embryo, gene is taken up and expressed
  24. Define euploidy
    chromosome count is normal
  25. Define aneuploidy
    abnormal chromosome count
  26. define monosomy
    a missing chromosome
  27. Define trisomy
    3 copies of a chromosome instead of 2
  28. Define triploidy
    triple the haploid number
  29. How do you calculate the diploid chromosome number of a hybrid species?
    Add the haploid numbers of each species
  30. What are the 3 rules of x inactivation?
    • 1. all but one X is functionally inactive
    • 2. inactivation is random with respect to parental origin
    • 3. inactivation is a permanent change (except during gamete formation)
  31. What is reciprocal translocation?
    breakage and refusion with exchange of parts of a chromosome
  32. What are two types of translocations?
    reciprocal translocation and centric fusion
  33. What is the chromosome complement of a mare with Turner's syndrome? What is the resulting phenotype?
    63 X, underdeveloped reproductive tract
  34. What is the diploid chromosome number of a chimera (goat & sheep)?
    cells are either 60 (sheep) or 54 (goat)
  35. Both parents are heterozygous for a autosomal dominant disease. How many of the offspring are affected?
  36. Both parents are heterozygous for an autosomal recessive disease. How many of the offspring are affected?
    25% (50% carriers)
  37. How are x linked mutant genes expressed in heterozygous females?
    They are carriers
  38. Can females heterozygous for hemophilia develop disease even though they are carriers?
    If most of the cells in the liver came from mutation on the active x chromosome, yes.
  39. What is penetrance?
    How well does the genotype match the phenotype
  40. What is an example of incomplete penetrance/dominance?
    Dexter cattle are autosomal dominant (Aa), but the aa genotype results in a lethal phenotype (bulldog calf).
  41. Give an example where a different mutations in the same gene result in very different phenotypes
    androgen receptor mutations result in complete inactivation, testicular hypoplasia, or no effect at all
  42. What is an example of heterozygote advantage?
    Sickle cell anemia - immune to malaria
  43. What are two examples of founder effect?
    BLAD - neutrophil adhesion deficiency - traced back to 1 bull - autosomal recessive

    HYPP is a voltage gated Na+ channel mutation traced back to Impressive
  44. What are multifactorial diseases?
    Diseases that are familial but do not cleanly fit mendelian inheritance - affected by genetics and environment
  45. What are the proportions of poodles that are normal when the parents are PDA x PDA (100%), PDA x 1st gen relative (75%), and PDA x Normal (50%)?
    • 100% = 17% normal, 66% with disease
    • 75% = 33% normal, 45% with disease
    • 50% = 78% normal, 10% with disease
  46. What is liability? What is threshold?
    • liability is the "dose" of bad gene + bad environment
    • threshold - must be reached to show signs of disease
  47. What is a morphological diagnosis?
    communication tool used to convey the cause and significance of tissue damage
  48. What does 3DATP stand for and which ones are most important?
    • degree, duration, distribution, adjective, tissue, process
    • T&P
  49. What is an etiologic diagnosis?
    cause and tissue process
  50. What is the outcome of ATP depletion
    shift to glycolysis, intracellular P rises, pH drops
  51. What happens has Ca2+ builds up in the cell
    widespread enzyme activation
  52. What happens during mitochondrial damage?
    mitochondrial permeablility transition, cytochrome C leakage, programmed apoptosis
  53. Oxygen and ROS damage is from
    normal cellular metabolism and inflammatory cells
  54. Oxidative damage results in
    membrane, protein, & nucleic acid damage
  55. Reversible cell damage is characterized by:
    loss of volume control & cell swelling
  56. What causes the cell to swell during hypoxic conditions?
    • ATP depletion results in loss of Na/K/ATPase pump
    • Na flows in toward gradient, proteins can't get out = increased osmolarity
    • water flows in
  57. What are myelin figures?
    injured membrane (whorls)
Card Set
Biology of Disease
BOD exam 1