Method of diagnosing a neurodegenerative disease

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01) G01N 33/50 (2006.01)

Patent

CA 2677339

The present invention provides a method for diagnosing a neurodegenerative disease or for determining the predisposition of a subject to a neurodegenerative disease. In particular, the methods of the present invention comprise detecting a marker linked to map position 9p21, e.g., a marker within an opioid receptor sigma 1 (OPRS1) gene or an expression produce thereof. The present invention also provides a method for identifying new markers that are associated with a neurodegenerative disease. The present invention also provides mutant forms of an OPRS1 gene or an expression product thereof and reagents for detecting those mutations.

Cette invention concerne un procédé permettant de diagnostiquer une maladie neurodégénérative ou de déterminer la prédisposition d'un sujet à une maladie neurodégénérative. En particulier, les procédés de l'invention comprennent la détection d'un marqueur lié en position 9p21 de la carte génétique, par exemple un marqueur à l'intérieur d'un gène de récepteur opioïde sigma 1 (OPRS1) ou son produit d'expression. La présente invention concerne également un procédé permettant d'identifier de nouveaux marqueurs associés à une maladie neurodégénérative. De plus, cette invention propose des formes mutantes d'un gène OPRS1 ou de son produit d'expression et des réactifs permettant de détecter ces mutations.

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