Dna sequences encoding the machado-joseph disease gene and...

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) C07K 14/47 (2006.01) G01N 33/554 (2006.01) G01N 33/566 (2006.01)

Patent

CA 2158791

A method by which a nucleotide sequence, specifically a CAG triplet repeat shown to be expanded in individuals with Machado-Joseph Disease can be identified in a sample obtainable from an individual. The present methods can be used to identify individuals in whom the CAT triplet repeat is expanded, including methods useful to identify the protein encoded by the Machado-Joseph Disease gene.

L'invention porte sur une méthode grâce à laquelle on décèle une séquence de nucléotides, en particulier une répétition de triplets CAG dont l'expansion est associée à la maladie de Machado-Joseph, dans un échantillon provenant d'un individu. Les méthodes décrites permettent de rechercher les personnes présentant une expansion de triplets CAT, et comprennent des méthodes utiles pour déceler la protéine codée par le gène de la maladie de Machado-Joseph.

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