Method for the indirect genotypic diagnosis of cadasil

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2193564

The method for the indirect genotypic diagnosis of CADASIL for symptomatic or at risk individuals or fetuses belonging to a family suspected or known to be affected by CADASIL, comprises the use of markers genetically linked to the mutated gene responsible for CADASIL in order to detect whether or not the tested individual is carrying the chromosome 19 markers alleles that has been linked to the disease gene in this given family and to estimate his carrier risk, the method being based on the localization of the gene in the interval of 2 cM spanned by the flanking markers D19S226 and D19S199 and in that one uses at least two markers located each on one side of the gene.

a méthode de diagnostic génotypique indirect de l'artériopathie cérébrale autosomique dominante avec infarctus sous-cortical et leucoencéphalopathie (CADASIL) chez les personnes ou foetus symptomatiques ou à risque appartenant à une famille que l'on sait ou présume être affectée par cette maladie comprend l'utilisation de marqueurs génétiquement liés au gène muté responsable de cette maladie pour pouvoir déterminer si oui ou non la personne testée est porteuse des allèles marqueurs du chromosome 19 qui a été lié au gène de la maladie dans cette famille déterminée et pour estimer son risque de porteur, la méthode étant fondée sur la localisation du gène dans l'intervalle de 2 cM délimité par les marqueurs flanquants D19S226 et D19S199 et sur le fait que l'un utilise au moins deux marqueurs situés chacun de part et d'autre du gène.

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