Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection
AssigneeInstitut Pasteur
InventorsChristine Petit, Francoise Denoyelle-Gryson, Dominique Weil, Sandrine Marlin, 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.
Claims11
An isolated polynucleotide, or the complement thereof, comprising at least fifteen contiguous nucleotides encoding connexin26, wherein the nucleotide sequence encoding connexin26 comprises a specific deletion of at least one nucleotide, wherein the specific deletion of at least one nucleotide is located in a guanosine rich region starting at a position corresponding to position 30 to position 35 of the coding region of the connexin 26 gene, and wherein the isolated polynucleotide is detectably labeled with a fluorescent label or biotin, or is immobilized on a microplate.
An isolated polynucleotide, or the complement thereof, comprising at least fifteen contiguous nucleotides encoding connexin26, wherein the nucleotide sequence encoding connexin26 comprises a specific deletion of at least one nucleotide, wherein the specific deletion of at least one nucleotide is located in a guanosine rich region starting at a position corresponding to position 30 to position 32 of the coding region of the connexin 26 gene, and wherein the isolated polynucleotide is detectably labeled with a fluorescent label or biotin, or immobilized on a microplate.
Dependencies are inferred from the claim text.