Identification of novel polymorphic sites in the human...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01)

Patent

CA 2471198

This invention relates to polymorphisms in the human mGluR8, in particular to the discovery of 10 single nucleotide polymorphisms in the mGluR8 gene. The invention also relates to methods and materials for analyzing allelic variation in the mGluR8 gene, and to the use of mGluR8 polymorphism in the diagnosis and treatment of mGluR8 and/or mGluR8-mediated diseases, such as Parkinson s disease etc. The herein disclosed probes containing at least one of the herein disclosed SNPs can be used to identify nucleic acid samples containing mGluR8 SNPs or as primers or for expressing variant proteins. Methods of analyzing the polymorphic forms occupying the polymorphic sites are also disclosed.

L'invention concerne des polymorphismes dans le gène humain mGluR8, en particulier la découverte de 10 polymorphismes de nucléotide unique dans ce gène. L'invention concerne aussi des procédés et des matériaux destinés à analyser la variation allélique dans le gène mGluR8, et à utiliser le polymorphisme de ce gène dans le diagnostic et le traitement de maladies dont la médiation est assurée par le gène mGluR8, telles que la maladie de Parkinson et d'autres. Les sondes décrites, contenant au moins un des polymorphismes de nucléotide unique découverts, peuvent être utilisées afin d'identifier des échantillons d'acides nucléiques contenant des polymorphismes de nucléotide unique de mGluR8, ou en tant qu'amorces, ou bien afin d'exprimer des protéines variantes. L'invention concerne aussi des procédés d'analyse des formes polymorphes occupant les sites polymorphes.

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