Hereditary hemochromatosis gene

Details Hereditary hemochromatosis gene Hereditary hemochromatosis gene

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/70 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) A61K 49/00 (2006.01) A61K 51/10 (2006.01) C07H 21/00 (2006.01) C07K 7/06 (2006.01) C07K 7/08 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 14/74 (2006.01) C07K 16/28 (2006.01) C07K 19/00 (2006.01) C12N 15/10 (2006.01) C12N 15/85 (2006.01) C12P 19/34 (2006.01) C12Q 1/68 (2006.01) G01N 33/554 (2006.01) G01N 33/68 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2253240

The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.

L'invention se rapporte généralement au gène, et à ses mutations, qui sont responsables de l'hémachromatose héréditaire (HH). L'invention se rapporte plus particulièrement à l'identification, l'isolation et le clonage d'une séquence d'ADN correspondant aux gènes normaux et mutants de l'hémochromatose ainsi qu'à la caractérisation de leurs produits de transcription et de leurs produits géniques. L'invention se rapporte également à des procédés et autres de dépistage des homozygotes de l'hémochromatose, ainsi qu'au diagnostic de l'hémochromatose, au dépistage et diagnostic prénatals, et à des traitements de l'hémochromatose tels que des thérapies géniques, des traitements à base de protéine et d'anticorps et des traitements à base de petites molécules.

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