| abstract |
The present invention relates to gene mutants and their applications. Specifically, the present invention relates to the use of reagents for detecting mutation sites in the preparation and screening of biological samples susceptible to non-syndromic autosomal dominant deafness, as well as isolated nucleic acids encoding IFNLR1 mutants, isolated polypeptides, and screening non-syndromic autosomal dominant deafness. System for biological samples of syndromic autosomal dominant deafness, kits, constructs and recombinant cells for screening biological samples of non-syndromic autosomal dominant deafness. Wherein, the isolated nucleic acid encoding IFNLR1 mutant has c.296G>A mutation compared with the wild-type IFNLR1 gene. By detecting whether the new mutant exists in the biological sample, whether the biological sample is susceptible to ADNSHL can be effectively detected. |