Mutation within the connexin 26 gene responsible for...

Details Mutation within the connexin 26 gene responsible for... Mutation within the connexin 26 gene responsible for...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/04 (2006.01) C12Q 1/68 (2006.01) C07K 14/705 (2006.01)

Patent

CA 2301301

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

L'invention concerne un polynucléotide purifié présentant une chaîne de nucléotides correspondant à une séquence mutante qui, lorsqu'elle est sous forme sauvage, code un polypeptide impliqué dans une insuffisance sensorielle héréditaire. Ledit polynucléotide purifié mutant présente une mutation responsable de la surdité prélinguistique, qui n'est pas du type syndrome, mutation choisie parmi le groupe de celles qui consistent à supprimer de manière spécifique au moins un nucléotide.

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