Patent ID: 9169517
Filing Date: 2015-10-27
Classification: C12Q

Abstract:
1. A method for diagnosing the autosomal prelingual non-syndromic deafness in a human subject, comprising assaying a biological sample comprising a connexin 26 gene obtained from the human subject to determine the presence of a mutation in the connexin 26 gene, wherein the assaying comprises contacting the connexin 26 gene with an allele-specific probe, wherein the allele-specific probe specifically hybridizes with a connexin 26 gene comprising the mutation, but not to the wild-type connexin 26 gene, and detecting a hybrid formed between the allele-specific probe and the connexin 26 gene, wherein the mutation results in a deletion of a guanosine at a position corresponding to position 30 of the coding region of the connexin 26 gene, and wherein the presence of the mutation indicates that the human subject has autosomal prelingual non-syndromic deafness.