Chromosome associations

[Myxedema]

• 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.

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[ulikedaggers]

Might as well throw in all the mitochondrial DNA disorders.

 

[ChessMaster3000]

Hey, I think for chr 19, ApoE4 is not protective, rather ApoE2 is the protective allele