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  1. Cerebral Vein thrombosis, Deep Vein thrombosis
    • clotting factor V
    • Prothrombin variant
    • Oral contraceptive
  2. Hirschsprung Disease
    • absence of colonic ganglionic cells
    • ReT, Ligand gdnf, endothelium B receptor..ligand endothelium
    • Mutation in intron
  3. Type 1 DM
    • HLA-DR3 or HLA-DR4
    • other gene mutations present
    • Beta cell destruction via autoimmunity
    • Viral infection
  4. Alzheimer Disease
    epsilon4 allele of apoE
  5. Environmental cause of Anencephaly, Spina Bifida
    Folic acid deficiency in maternal blood
  6. Cleft Lip and Cleft Palate
    • transcription factors TBX1,MSX1, IRF6, FGFR1
    • maternal smoking
  7. Schizophrenia
    22q11 deletion
  8. CAD
    • Hypertension
    • Obesity
    • Diabetes Mellitus
  9. x linked recessive disorders
    • Bruton agammaglubelimia
    • Wiskott-Aldrich
    • Fabry's
    • G6pd
    • Ocular albinism
    • Lesch Nyhan syndrom
    • Duchenne and Becker muscular dystrophy
    • Hunter
    • Syndrome
    • Hemophilia A and B(Christmas)
  10. Trinucleotide repeat expansion diseases
    (Try Hunting for My Fried eggs(X)
    • Huntington
    • Fragile X syndrom
    • Myotonic Dystrophy
    • Friedrich's Ataxia
  11. Autosomal Trisomies
    • Down syndrom-Ch 21
    • Edwards Syndrome-Ch 18
    • Patau Syndrom-Ch 13
  12. Methemoglobin carries what?
  13. Methemoglobin is transmitted how?
    Autosomally dominant
  14. Methemoglonin is also called what?
    Hb Hyde park
  15. What results from Hb Kempsey?
    polycythemia---impaired Oxygen delivery to tissues
  16. Hb Tak results from ?
    • 2 b.p insertion..frame shift mutation
    • increased oxygen affinity
  17. Which Hb displays novel function?
    Hb S
  18. Whats the only lipid component of ETC?
    coenzyme Q
  19. Copper is used by what complex in the ETC?
    Complex IV
  20. Loss of all alpha genes results in what?
    Hydrops fetalis
  21. In which thalasemia would you see extramedullary erythropoeises and medullary expansion?
    Beta thalasemia
  22. Frontal bossing and a chipmunk, hepatomegally is seem when?
    beta thalasemia
  23. Iron overload is risky in what gender/?
Card Set
Genetic Disease
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