贵州省356例非综合征型聋患者常见致聋基因突变分析

目的：分析贵州省356例非综合征型聋患者常见耳聋基因突变特点，初步了解其耳聋基因热点突变谱系及频率。方法采集贵州省356例平均年龄为11．90±12．23岁的非综合征型感音神经性聋患者的外周血，提取基因组DNA，应用遗传性耳聋基因芯片检测试剂盒对GJB2、SLC26A4、GJB3及线粒体DNA12SrRNA基因的9个突变热点（GJB2基因35delG、176del16、235delC、299delAT 突变，SLC26A4基因 IVS7－2A＞G、2168A＞G 突变，GJB3基因538C＞T突变，12SrRNA基因1555A＞G和1494C＞T 突变）进行检测。结果356例非综合征型聋患者中，88例（24．72％）携带不同基因突变；1例携带 GJB2、SLC26A4双基因突变；GJB2基因突变40例（11．24％）（含前述1例双基因突变者），其中纯合突变19例（5．34％），复合杂合突变5例（1．40％），单杂合突变15例（4．21％）；SLC26A4基因突变29例（8．15％）（含前述1例双基因突变者），其中纯合突变9例（2．53％），单杂合突变19例（5．34％）；线粒体DNA12SrRNA 基因突变19例（5．34％），其中1555A＞G 均质突变10例（2．81％），1555A＞G异质突变7例（1．97％），1494C＞T 均质突变2例（0．56％）；1例患者携带GJB3基因538C＞T 杂合突变。结论贵州省NSHL患者以GJB2基因和SLC26A4基因为最主要的致病基因，其中235delC突变为最常见突变位点，其次为IVS7－2 A＞G突变。

An Analysis of the Common Deafness Gene Mutation from 356 Non-Syndromic Deafness Patients in Guizhou Province

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.