Methods of detecting mutations associated with ataxia-ocular...

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2635343

Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

La présente invention concerne des procédés d'identification de polymorphismes associés à l'ataxie-apraxie oculaire de type 2 (AOA2). Les polymorphismes associés à l'AOA2 comportent des mutations spécifiques dans le gène sénataxine (SETX). L'invention concerne également des procédés de diagnostic de l'AOA2, ainsi que des procédés d'évaluation d'un sujet pour un statut porteur pour l'AOA2.

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