MUTATION WITHIN THE CONNEXIN 26 GENE RESPONSIBLE FOR PRELINGUAL NON-SYNDROMIC DEAFNESS AND METHOD OF DETECTION

摘要

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.

主权项

1. 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 position 228 to position 233 of SEQ ID NO: 8, and wherein the isolated polynucleotide is detectably labeled.