[Analysis of deafness-related gene mutations in 23 nonsyndromic hearing impairment families in Guangxi Zhuang Autonomous Region].

: Objective:To investigate the genetic characteristics of the mutations responsible for nonsyndromic hearing loss in Guangxi Zhuang Autonomous Region, and analyze the deafness-related gene mutations in nonsyndromic hearing impairment families in this region.Method:In 23 nonsyndromic hearing impairment families,66 patients or their families were enrolled as family history group and 167 patients or their families without family histiory as control group, respectively. Deafness gene mutations were determined with deafness-related gene mutations detection kits. The mutation rates among the deafness probands, the hearing impairment patients and their audibility relatives were analyzied. Whole length sequences of the deafness-related gene were detected if there was mutation by the kits, to explore Guangxi region-specific mutation-sites.Result:Common deafness-related gene mutation rate in family history group(31.82%) was higher than that in control group(11.38%), including those that in GJB2 homozygous(21.21%), SLC26A4 homozygous (9.09%), both were higher than the control group (GJB2 homozygous 5.99%, SLC26A4 homozygous 3.59%) . The rate of common deafness-related gene mutations in the deafness probands was 34.78%, in the hearing impairment patients was 30.56%, in their audibility relatives was 29.63%, all of which were higher than those in the control group. We found three rarely seen mutations, SLC26A4 IVS11+47T>C, 1548insC and GJB2 109 A>G, by detecting the whole-length sequences of the deafness-related gene.Conclusion:The results indicated that GJB2 and SLC26A4 were the most frequent mutant genes in Guangxi region. Analysis of the individual family were helpful to linkage the mutations and the deafness.