Mutations associated with iron disorders

Details Mutations associated with iron disorders Mutations associated with iron disorders

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07K 14/705 (2006.01) C12N 15/13 (2006.01)

Patent

CA 2368802

The invention features a method of diagnosing an iron disorder, e.g., hemochromatosis, or a genetic susceptibility to developing such a disorder in a mammal by determining the presence of a mutation in exon 2 or in an intron of an HFE acid.

Cette invention porte sur un procédé de diagnostic d'un état pathologique lié à la présence de fer tel que l'hémochromatose ou ayant une prédisposition génétique à développer cette pathologie, notamment chez un mammifère. Le procédé consiste à déterminer la présence d'une mutation dans l'exon 2 ou dans l'intron d'un acide nucléique HFE.

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