徐州地区354例耳聋患者GJB2及SLC26A4基因突变筛查分析

An Analysis of GJB2 and SLC26A4 Gene Mutation Screening of Deafness Patients in Xuzhou Area

目的从分子遗传学水平探讨徐州市重度及极重度感音神经性聋患者的病因学特点。方法采集徐州市特殊教育学校共354例重度或极重度感音神经性聋患者的血样,提取DNA,利用SNPscan技术对其GJB2和SLC26A4基因突变进行检测,分析基因突变检出率及突变形式。结果 354例患者中共165例(46.61%,165/354)检出GJB2或SLC26A4基因致病突变,其中108例(30.51%,108/354)检出GJB2基因突变,50例(14.12%,50/354)为复合杂合突变,58例(16.38%,58/354)为纯合突变,其中235delC基因纯合突变54例;57例(16.10%,57/354)检出SLC26A4基因突变,其中复合杂合突变37例(10.45%,37)354,纯合突变20例(5.65%,20/354),均为919-2A>G纯合突变。结论 GJB2及SLC26A4基因为徐州地区重度或极重度感音神经性聋人群中的常见致病基因,235delC为GJB2基因突变主要形式,919-2A>G为SLC26A4基因突变主要形式。

Objective GJB2 and SLC26A4 gene preliminary screening were performed on 354 subjects with hearing loss at Xuzhou city by using SNPscan technology to understand the genetic etiology of subjects with hearing loss.Methods The blood samples of 354 students with hearing loss from special education schools were collected,and mutations of GJB2 and SLC26A4 gene were screened by SNPscan.Results Among all these subjects,GJB2 or SLC26A4 gene mutations were found in 165 subjects（46.6%）.While 108 subjects（30.5%）had GJB2 gene mutations,50 subjects（14.1%）were compound mutations,3 subjects were homozygous mutation.SLC26A4 gene mutations were found in 57subjects（16.1%）,and compound heterozygous mutations were found in 37subjects（10.5%）,homozygous mutations of 919-2AG were found in 20 subjects（5.6%）.Conclusion GJB2 and SLC26A4 are the main causative genes in subjects with hearing loss in Xuzhou.235 delC is the major mutation of GJB2 gene,and 919-2AG is the major mutation of SLC26A4 gene.The Preliminary screening of these genes could effectively find the genetic etiology of hearing loss,and it is helpful to prevent and treat hearing loss in Xuzhou city.