| abstract |
The invention provides an SLC26A4 gene mutant and application thereof. A gene mutation is provided having a c.128delg mutation and/or a c.1001+5G > C mutation as compared to the wild-type SLC26a4 gene. The gene mutation is detectable, and whether the biological sample suffers from non-syndromic deafness can be effectively detected by detecting whether the gene mutation exists in the biological sample. By detecting the gene mutation, the detection and the research of the hereditary hearing loss disease are expanded and perfected, and a new detection site, a new detection method and a new detection way are provided for the diagnosis or the treatment of the disease. |