Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection
AssigneeInstitute Pasteur
InventorsChristine Petit, Francoise Denoyelle-Gryson, Dominique Weil, Sandrine Marlin-Duvernois, Jean-Luc Guesdon
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Abstract
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.
Claims28
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.
A pair of the oligonucleotides as claimed in claim. 8, which are:
- 15 5′-CTAGTGATTCCTGTGTTGTGTGC;
- and (SEQ ID No. 9)-3′ 5′ ATAATGCGAAAAATGAAGAGGA. (SEQ ID No. 10)-3′
Dependencies are inferred from the claim text.