Polymorphisms and new genes in the region of the human...

C - Chemistry – Metallurgy – 07 – H

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C07H 21/04 (2006.01) C07K 14/705 (2006.01) C12P 19/34 (2006.01) C12Q 1/68 (2006.01) C07K 14/74 (2006.01)

Patent

CA 2268771

Polymorphic sites in the region surrounding the HFE gene are provided. These polymorphisms are useful as surrogate markers in diagnostic assays for hemochromatosis. Additionally, a fine structure map of the 1 megabase region surrounding the HFE gene is provided, along with 235 kb of DNA sequence and 8 loci corresponding to candidate genes within the 1 megabase region, and in the purification of related proteins.

On décrit des sites polymorphes dans la région entourant le gène de l'hémochromatose héréditaire. Ces polymorphismes sont utiles en tant que marqueurs de substitution dans des méthodes de diagnostic de l'hémochromatose, ainsi que dans la purification de protéines associées. En outre, on décrit une carte ultrastructurale de la région de 1 mégabase entourant le gène de l'hémochromatose héréditaire, de même que les 235 kb de la séquence d'ADN et les 8 sites correspondant aux gènes candidats situés dans la région de 1 mégabase.

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