modeofinheritance.txt

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Author:
aa933
ID:
89639
Filename:
modeofinheritance.txt
Updated:
2011-06-07 13:30:24
Tags:
mode inheritance
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Description:
mode of inheritance
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  1. Ehlers-Danlos syndrome
    • BOTH
    • autorecessive and dominant
  2. Osteogenesis imperfecta
    AutoDOMINANT
  3. Alports syndrome
    X-linked recessive

    • type 4 col
    • kidney, ears, eyes
  4. Autosomal dominant
    • Achondroplasia
    • ADPKD
    • Familial adenomatous
    • Familial hypercholesterolemia (type IIA)
    • Hereditary hemorrhagic telangctasia (Osler-weber-rendu syn)
    • Hereditary spherocytosis
    • Huntingon disease
    • Marfan syndrome
    • MEN
    • Neuofirbomatosis 1 and 2
    • Tuberous sclerosis
    • von Hippel- lindau disease
  5. Autosomal recessive
    • albinism
    • ARPKD
    • cystic fibrosis
    • glycogen storage disease
    • Hemochromatosis
    • Mucopolysacxharidoes (NOT HUNTER)
    • PKU
    • Sickle cell
    • Sphinogolipidosis (NOT FABRY)
    • thalassemia
  6. X-linked recessive
    • Burtons agammaglobinemia
    • Wiskott-aldrich
    • Fabry
    • G6PD def
    • Ocular
    • Lesch-nyslan
    • Duchennes + Becker
    • Hunter syn
    • Hemophila A and B
    • ornithin transcarbamoylas (OTC) def -
    • MOSTLY BOYS
  7. Trinucleotide repeats
    • Huntingon- CAG
    • Myotonic distrophy- CTG
    • Fragile X- CGG
    • Friedrichs ataxia - GAA
  8. Metabolism Autorecessive
    • Alkaptonuria
    • Albinism
    • Homocystinuria
    • Cystinuria
    • Hartnup disease
  9. Glycogen storage disease
    Autorecessive

    • VonGeirkes - 1
    • Pompes -2
    • Cori - 3
    • McArdle -5
  10. Lysosomal storage dx
    Sphinolipdioses
    Autorecessive

    • Gaucher
    • Niemann-Pick
    • Tay-Sachs
    • Krabbe
    • Metachromatic leukodystrophy

    • X=-recessive
    • Fabry
  11. Lysosomal storage
    Mucopolysaccharides
    • Autorecessive
    • Hurlers
    • X-R
    • Hunter syn
  12. abetalipoteinemia
    Autosomal recessive

    • FTT
    • Steatorrhea
    • Acanthocytosis--spikey RBCs
    • ataxia
    • night blindness

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