Genetic marker test for lupus

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2365875

Disclosed is a genetic testing method for diagnosing systemic lupus erythematosus (SLE) in a human subject. The method is related to amplifying nucleic acids from human tissue samples and analyzing for a variant allele of a gene encoding poly(ADP-ribosyl)transferase expression (PARP), which is diagnostic of SLE or indicates a genetic predisposition for developing SLE. Also disclosed are useful oligonuclotide primers, primer sets and genetic testing kits for detecting a genetic predisposition for developing SLE.

L'invention concerne un procédé d'essai génétique permettant d'établir le diagnostic du lupus érythémateux aigu disséminé chez l'homme. Ce procédé est associé à l'amplification d'acides nucléiques provenant d'échantillons tissulaires humains et à l'analyse d'un allèle d'un gène codant l'expression de la poly-ADP-ribosyl)transférase (PARP), la présence de cet allèle constituant le diagnostic du lupus érythémateux aigu disséminé ou indiquant une prédisposition génétique au développement de cette maladie. L'invention concerne également des amorces oligonucléotidiques, des ensembles d'amorces et des trousses d'essais génétiques, utiles dans la détection d'une prédisposition génétique au développement du lupus érythémateux aigu disséminé.

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