[Analysis of the SLC26A4 mutation from 230 deafness patients in Guangxi region].

Objective:To investigate the mutation characteristics of SLC26A4 gene from 230 hearing loss patients in Guangxi region.Method:Two hundred thirty patients with hearing loss were enrolled in the study. Eight mutation sites in SLC26A4 gene were tested; the types of gene mutation and the inner ear CT features of the mutationpositive patients were analyzed.Result:Among 230 deafness patients,the total mutation rate of SLC26A4 gene is 2.61%(6/230). The types of gene mutation include SLC26A4 IVS7-2A> G heterozygous in 2 case(0.87%).1226G> A homozygous in 1 cases(0.43%),IVS7-2A>G，IVS11+47T>C and 1548insC mutations in 2 cases(0.87%).Conclusion:The mutation rate of SLC26A4 gene in Guangxi region is lower than the national average level. The main mutation type in Guangxi region is SLC26A4 IVS7 2A>G. In this study, two gene mutations (SLC26A4 IVS11+47T> C and 1548insC) are firstly found, suggesting that some rare mutation types of SLC26A4 may exist in patients living in Guangxi region.