1. Amino acids necessary for purine synthesis:
    GAG: Glycine, Aspartate, Glutamine
  2. orotic aciduria
    megaloblastic anemia, no hyperammonemia
  3. fluoroquinolones
    Inhibit DNA gyrase
  4. DNA polymerase III
    Makes leading strand (5'-->3') with 3'-->5' exonuclease activity
  5. DNA polymerase I
    Makes lagging strand by excising RNA primer with 5'-->3' exonuclease activity
  6. Mutation in nucleotide excision repair and thus preventing repair of thymidine dimers cause:
    xeroderma pigmentosum - dry skin with melanoma and other cancers
  7. DNA mismatch repair is mutated in:
    Hereditary nonpolyposis colorectal cancer (HNPCC)
  8. mRNA stop codons
  9. alpha-amanitin
    Found in death cap mushrooms. Inhibits RNA polymerase II. RNA polymerase opens DNA at promoter site. Causes liver failure if ingested.
  10. Antibodies to spliceosomal snRNPs are found in patients with:
  11. Where is the amino acid bound on the tRNA?
    3' end.
  12. What drug prevents attachment of the aminoacyl-tRNA?
  13. Aminoglycosides inhibit protein synthesis by?
    Inhibiting the formation of the initation complex and causing misreading of mRNA
  14. What inhibits 50S peptidyltransferase?
  15. Mechanism of action for Clindamycin:
    binds 50S, blocking translocation
  16. Addition of mannose-6-phosphate does what?
    Target lysosomal proteins to the lysosome.
  17. Patient presents with coarse facial features, clouded corneas, restricted joint movement, and high plasma lvels of lysosomal enzymes - what condition does he have and why?
    I-cell disease (inclusion cell disease) - failure to add mannose-6-phosphate to lysosomal proteins.
  18. Dynein transports in what direction?
    Retrograde to microtubule (+ --> - )
  19. Kinesin moves in what direction?
    Anterograde to microtubule (- --> +)
  20. Patient presents with recurrent pyogenic infections, partial albinism, and peripheral neuropathy. What condition does she have?
    Chediak-Higashi syndrome - microtuble polymerization defect resulting in decrease phagocytosis by macrophages.
  21. What are all the drugs that act on microtubules?
    Mebendazole, griseofulvin, vincristine, paclitaxel, colchicine
  22. Patient presents with inferitility, bronchiectasis, recurent sinusitis, and situs inversus. What does he have?
    Kartagener's syndrome - immotile cilia due to a dynein arm defect.
  23. Vimentin is found in?
    Connective tissue
  24. Desmin is found in?
  25. Cytokeratin is found in?
    Epithelial cells
  26. Glial fibrillary acid proteins (GFAP) is found in?
  27. Bone - collagen type?
    Type 1
  28. Skin - collagen type?
    Type 1, type 3
  29. Tendon - collagen type?
    Type 1
  30. dentin - collagen type?
    type 1
  31. fascia - collagen type?
    type 1
  32. cornea - collage type?
    type 1
  33. late wound repair - collagen type?
    type 1
  34. cartilage - collagen type?
    type 2
  35. vitreous body - collagen type?
    type 2
  36. nucleus pulposus - collagen type?
    type 2
  37. blood vessels - collagen type?
    type 3
  38. uterus - collagen type?
    type 3
  39. fetal tissue - collagen type?
    type 3
  40. granulation tissue - collagen type?
    type 3
  41. basement membrane or basal lamina - collagen type?
    type 4
  42. Vitamin C is required for collagen synthesis for?
    hydroxylation of proline and serine
  43. in wound healing, what metal is necessary for the conversion of Type 3 collagen to Type 1?
  44. In wound healing, what lysyl oxidase needs what cofactor to cross-link collagen and elastic tissue?
  45. What type of collage is most affected by Ehlers-Danlos syndrome?
    Type III
  46. Joint dislocation, berry aneurysm, and organ rupture is associated with what condition?
    Ehlers-Danlos Syndrome
  47. Patients with mutliple fractures and blue sclerae are also predisposed to?
    hearing loss and dental imperfections
  48. Progressive nephritis and deafness with ocular disturbances is found in children with?
    Alport's syndrome. Abnormal Type IV collagen. XR
  49. Patients with arachnodactyly, ectopia lentis, and aortic issues have a defect in what protein?
    fibrillin (Marfan's syndrome)
  50. What inhibits elastase, which breaks down elastin?
  51. Southern
  52. Northern
  53. Western
  54. When one gene has greater than 1 effect on an individual's phenotype, it's call:
    Pleiotropy. Ex: PKU
  55. If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops, this is called:
    loss of heterozygosity. Ex: retinoblastoma
  56. Marfanoid habitus is characterized by:
    long limbs, arachnodactyly, hyperlaxity
  57. When mutations at different loci can produce the same phenotype, it is called:
    Locus heterogeneity. Ex: Marfan's Syndrome, MEN 2B, homocystinuria all cause marfanoid habitus.
  58. When offspring received 2 copies of a chromosome from 1 parent and no copies from the other parent, this is called:
    Uniparental disomy
  59. Patient presents with mental retardation, hyperphagia, obesity, hypogonadism, and hypotonia - what condition does this patient have?
    Prader-Willi syndrome
  60. Patient presents with seizures, ataxia, inappropriate laughter, and mental retardation - what does this patient have?
    Angelman's syndrome
  61. Hypophosphatemic rickets or vitamin D resistant rickets has what kind of inheritance pattern?
    X-linked dominant
  62. Leber's hereditary optic neuropathy shows what kind of inheritance pattern?
    Mitochondrial inheritance
  63. Patient presents with acute loss of central vision - she has?
    Leber's hereditary optic neuropathy - degeneration of retinal ganglion cells and axons.
  64. N-acetylcysteine can be used in what two conditions?
    • Cystic Fibrosis - loosen mucous plugs by cleaving disulfide bonds within mucous glycoproteins)
    • Detoxification of acetaminophen
  65. What kind of mutation is found in Duchenne's MD?
    Frame-shift mutation that causes a deletion of the dystrophin gene. X-linked Recessive
  66. What defect is found in Fragile X syndrome?
    X-linked defect in methylation and expression of the FMR1 gene. Associated with chromosomal breakage.
  67. CTG repeats are found in?
    MyoTonic dystrophy
  68. CAG repeats are found in?
    Huntington's disease
  69. CGG repeats are found in?
    Fragile X syndrome
  70. GAA repeats are found in?
    Friedreich's ataxia
  71. Congenital microdeletion of long arm of chromosome 7 results in?
    Williams syndrome
  72. Patient presents with distinctive "elfin" facies, mental retardation, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, and cardiovascular problems. She has?
    Williams syndrome
  73. Deletion of chromosome 22q11 results in what two conditions?
    DiGeorge syndrome & Velocardiofacial syndrome
  74. Thymic, parathyroid and cardiac defects can be found in a patient with?
    DiGeorge's Syndrome
  75. Palate, facial and cardiac defects can be found in a patient with?
    Velocardiofacial syndrome
  76. Dermatitis, glossitis, and diarrhea can be cound in patients with?
    Vitamin B complex deficiencies
  77. Dermatis, dementia, and diarrhea can be found in patients with a deficiency of?
    Vitamin B3 - Niacin
  78. Night blindness, dry eyes, and corneal softening is associated with what deficiency?
    Vitamin A
  79. Nausea, abdominal pain, diarrhea with increased frequency of calcium oxalate kidney stones is associated with and overdose of?
    Vitamin C
  80. Patients presenting with arthralgias, fatigue, headaches, skin changes, sore throat, and loss of hair has an overdose of?
    Vitamin A
  81. Cleft palate and cardiac abnormalies are found with what vitamin toxicity?
    Vitamin A
  82. Confusion, ophthalmoplegia, ataxia + memory loss, confabulation, personality change is associated with?
    Wernicke-Korsakoff, vitamin B1 deficiency, often due to malnutrition in alcoholics
  83. Polyneuritis and symmetrical muscle wasting is characteristic of?
    Dry beriberi - Vitamin B1 deficiency
  84. Dilated cardiomyopathy and edema is characteristic of?
    Wet beriberi - vitamin B1 deficiency
  85. Hypercalcemia, hypercalciuria, loss of appetite, and stupor can be seen in patients with an overdose of?
    Vitamin D. Seen in sarcoidosis due to increase activation of vitamin D by epithelioid macrophages.
  86. Malnutrition, pitting edema, anemia, fatty liver, swollen belly (ascites) can be seen in a child with?
    Kwashiorkor - protein deficient
  87. Growth retardation, muscle wasting, and anemia can be seen in a child with?
    Marasmus - protein & calorie deficiency
  88. Where in the cell is the site of synthesis and assembly of ribosomal components?
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