Chromosome associations

Discussion in 'Step I' started by Myxedema, Jan 13, 2014.

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  1. Myxedema

    Myxedema 2+ Year Member

    298
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    Aug 14, 2012
    • Chr. 1: L-myc, Alzheimer’s (pre-senillin 2)
    • Chr. 2: -
    • Chr. 3: VHL (3p)
    • Chr. 4. Huntington, Achondroplasia (FGFR3), ADPKD (PCKD2)
    • Chr. 5: Cri-du-chat (5q-), FAP (APC)
    • Chr. 6: Hemochromatosis (HFE)
    • Chr. 7: Cystic fibrosis (CFTR, ΔF508), Williams syndrome (elastin)
    • Chr. 8: Burkitt (C-myc, N-myc) [t(8;14); t(8;22)]
    • Chr. 9: p16 (melanoma), Friedreich’s ataxia (Frataxin-GAA), TS (TSC1), CML (bcr) [t(9;22)]
    • Chr. 10: CML [t(9;22)]
    • Chr. 11: β-thalassemia (β-globin), bcl-1/cyclin D [t(11;14)], Wilms’ tumor (WT1)
    • Chr. 12: -
    • Chr. 13: Rb (retinoblastoma, osteosarcoma), BRCA2, Wilson’s (ATP7B)
    • Chr. 14: Presenilin-1 (Alzheimer’s), IgH [t(8;14) → Burkitt; t(11;14) → Mantle; t(14;18) → Follicular]
    • Chr. 15: Marfan (fibrillin), Prader-Willi & Angelman (15q11), AML M3 (retinoic acid receptor-α) [t(15;17)]
    • Chr. 16: α-thalassemia (α-globin), ADPKD (PCKD1), TS (TSC2)
    • Chr. 17: NF type 1 (NF1), p53, BRCA1, AML M3 (PML) [t(15;17)]
    • Chr. 18: Bcl-2 [t(14;18)], DCC
    • Chr. 19: Familial hypercholesterolemia (LDL receptor), ApoE4 (Alzheimer’s → Protective)
    • Chr. 20: -
    • Chr. 21: B-APP (Alzheimer’s), SOD-1 (ALS)
    • Chr. 22: NF type 2 (NF2), DiGeorge (22q11 deletion), CML (abl) [t(9;22)]
    • X-linked
      • Fragile X syndrome (FMR1 – CGG expansion)
      • Menkes kinky hair (ATP7A)
      • Bruton (BTK)
      • Lesch-Nyhan (HPRT1)
      • Wiscott-Aldrich (WASP)
      • SCID (IL-2R)
      • Duchenne & Becker (Dystrophin)
      • Alport syndrome (COL4A5)
      • Hemophilia A&B (F VIII & IX)
      • Fabry (α-galactosidase A)
      • Hunter (iduronate sulfatase)
      • G6PD deficiency
      • OTC deficiency
    Please reply to the thread for additions.
     
    Docmma, MudPhud20XX and sanj238 like this.
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  3. ulikedaggers

    ulikedaggers Account on Hold Account on Hold

    593
    156
    Jul 2, 2013
    Might as well throw in all the mitochondrial DNA disorders.
     
  4. ChessMaster3000

    ChessMaster3000 5+ Year Member

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    210
    Mar 7, 2010
    Hey, I think for chr 19, ApoE4 is not protective, rather ApoE2 is the protective allele
     
    NeuroLAX likes this.

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