皖北地区常见耳聋基因突变位点检测与分析

目的:检测皖北地区耳聋病人常见的基因突变位点，阐明该地区耳聋的遗传病因学。方法:采集189例耳聋病人临床信息及外周静脉血2 mL，对GJB2、SLC26A4、线粒体（mt）DNA12SrRNA及GJB3 4种常见基因的9个突变位点进行检测，结合临床资料进行相关性分析。结果:189例病人中，其他疾病引起的耳聋27例，突发性耳聋29例，均未检测到突变位点；非综合征性耳聋（NSHL）病人133例，其中检测到基因突变55例（41.35%）。常见的突变基因依次为:GJB2（24.81%）、SLC26A4（12.03%）和mtDNA12SrRNA（6.02%）。常见的突变位点为235delC、IVS7-2A>G和1555A>G，其等位基因的突变率分别为35.45%、20.00%和11.82%。结论:皖北地区NSHL病人中GJB2突变比例最高，为最常见的突变基因，其最常见的突变位点为235delC。

Detection and analysis of common gene mutation site of deafness in north area of Anhui

Objective:To detect the common gene mutation site of deafness in north area of Anhui,and analyze the genetic etiology of deafness. Methods:The common nine gene mutation sites of GJB2,SLC26A4,mtDNA12SrRNA and GJB3 in 189 patients with deafness were detected,the correlation of which with deafness was analyzed. Results:Among 189 patients,the gene mutation sites in 27 cases caused by other diseases and 29 patients with sudden deafness were not detected. Among 133 patients with non-syndromic hearing loss (NSHL),the gene mutation sites in 55 cases(41. 35％) were identified,the most common mutation genes were the GJB2(24. 81％), SLC26A4(12. 03％) and mtDNA12SrRNA(6. 02％) in turn. The most common mutation sites were 235delC,IVS7-2A>G and 1555A>G,and the mutation rates of alleles of whose were 35. 45％,20. 00％ and 11. 82％,respectively. Conclusions:In NSHL patients from north area of Anhui,the most common mutation gene of deafness is GJB2,and the most common mutation site is 235delC.