C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C12P 19/34 (2006.01)
Patent
CA 2277583
The present invention provides a method of screening individuals at risk for developing diseases caused by trinucleotide repeat sequence instability. Specifically, the present invention is drawn to screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 by determining the length of a CAG trinucleotide repeat in the .alpha. 1A calcium channel gene of the individual. In addition, there is provided a method of identifying genes which are disease- causing due to trinucleotide repeat sequence instability by large scale genotyping.
La présente invention concerne un procédé permettant de rechercher les individus susceptibles de développer des affections imputables à l'instabilité des séquences de répétition de trinucléotides. En l'occurrence, l'invention vise à permettre la détection d'individus susceptibles de développer l'hérédo-ataxie cérébelleuse autosomique dominant de type 6 à dégénérescence des faisceaux spinaux cérébelleux. Le procédé consiste ainsi à déterminer la longueur d'une séquence de répétition de trinucléotides CAG dans le gène à canal calcium alpha 1A de l'individu considéré. L'invention concerne également un procédé permettant d'identifier par génotypage à grande échelle des gènes devenus pathogènes en raison de l'instabilité des séquences de répétition de trinucléotides.
Borden Ladner Gervais Llp
Research Development Foundation
LandOfFree
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