SDN members see fewer ads and full resolution images. Join our non-profit community!

Chromosome associations

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

  1. Myxedema

    Myxedema 5+ Year Member

    298
    45
    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.
  2. SDN Members don't see this ad. About the ads.
  3. ulikedaggers

    ulikedaggers Account on Hold Account on Hold

    592
    157
    Jul 2, 2013
    Might as well throw in all the mitochondrial DNA disorders.
     
  4. ChessMaster3000

    ChessMaster3000 7+ Year Member

    739
    213
    Mar 7, 2010
    Hey, I think for chr 19, ApoE4 is not protective, rather ApoE2 is the protective allele
     
    NeuroLAX likes this.

Share This Page