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目的分析研究广西地区壮族人群135例非综合征性聋常见致聋基因的突变特点,为防聋治聋工作提供参考。方法采用遗传性耳聋基因芯片试剂盒对广西地区壮族人群135例以及汉族人群44例非综合征性聋患者基因组DNA的4个常见致聋基因的15个突变位点进行检测,比较壮、汉族人群常见耳聋基因突变率的差异性。结果 135例壮族人群非综合征性聋患者常见致聋基因突变率为11.11%(15/135);其中GJB2 235del C纯合突变4例(2.96%),单杂合突变3例(2.22%);GJB2 235del C/109 A>G复合杂合突变2例(1.48%);SLC26A4 IVS7-2 A>G杂合突变1例(0.74%),IVS7-2A>G/IVS11+47T﹥C/1548ins C复合杂合突变2例(1.48%);GJB3 538C>T单杂合突变1例(0.74%),线粒体12S r RNA 1555 A>G异质突变1例(0.74%),GJB2 235 del C杂合突变合并SLC26A4 1226 G>A杂合突变1例(0.74%)。44例汉族非综合征性聋患者常见致聋基因突变率为15.90%(7/44),其中GJB2 235 del C杂合突变3例(6.82%),GJB2 35 del G杂合突变1例(2.27%);SLC26A4 1229C>T纯合突变2例(4.55%),SLC26A4 IVS7-2 A>G杂合突变1例(2.27%)。壮、汉族间耳聋基因突变率比较无统计学意义。结论 GJB2和SLC26A4是广西地区壮族人群非综合征性聋患者最常见的突变基因,GJB2的4个突变位点及SLC26A4的8个突变位点突变率明显低于全国平均水平,其中SLC26A4 IVS11+47T﹥C、1548ins C和GJB2 109 A>G是3个新发现的突变位点。本地区壮汉族之间的耳聋基因突变率无明显的差异性。广西地区壮族人群非综合征性聋患者可能存在罕见的致聋基因或罕见的突变位点,需待进一步研究。
Objective To analyze the mutation characteristics of common deafness genes in 135 cases of non-syndromic deafness in Zhuangs of Guangxi Zhuang population, and to provide reference for the prevention of deafness. Methods Fifteen mutated sites of four common deafness genes in genomic DNA of 135 cases of Guangxi Zhuang nationality and 44 cases of non-syndromic deafness of Han population were detected by hereditary deafness gene chip kit. Common deafness gene mutation rate difference. Results 135 cases of non-syndromic deafness Zhuang population common deafness gene mutation rate was 11.11% (15/135); GJB2 235del C homozygous mutation in 4 cases (2.96%), single heterozygous mutation in 3 cases (2.22%), ; 2 cases (1.48%) of GJB2 235del C / 109 A> G heterozygous mutation; 1 case of SLC26A4 IVS7-2 A> G heterozygous mutation (0.74%), IVS7-2A> G / IVS11 + 47T> C / 1548ins 1 (0.74%) in GJB3 538C> T, 1 case (0.74%) in mitochondrial 12S rRNA 1555 A> G heterozygous mutation, GJB2 235 del C heterozygous mutation A combined mutation of SLC26A4 1226 G> A heterozygous mutation was found in 1 case (0.74%). The common gene mutation rate of deafness in 44 Han Han patients with nonsyndromic deafness was 15.90% (7/44), of which 3 cases (6.82%) were GJB2 235 del C heterozygous mutation and 1 case (2.27 cases GGB2 35 del G heterozygous mutation) %). SLC26A4 1229C> T homozygous mutation in 2 cases (4.55%), SLC26A4 IVS7-2 A> G heterozygous mutation in 1 case (2.27%). Zhuang and Han deafness gene mutation rate was not statistically significant. Conclusions GJB2 and SLC26A4 are the most common mutational genes in non-syndromic deaf patients in Guangxi Zhuang nationality. The mutation rates of four mutations in GJB2 and eight mutations in SLC26A4 were significantly lower than the national average. Among them, SLC26A4 IVS11 + 47T > C, 1548ins C and GJB2 109 A> G are three newly discovered mutation sites. There was no significant difference in the mutation rate of deafness gene between the Zhuang and Han nationality in this area. Guangxi Zhuang ethnic non-syndromic deaf patients may exist rare deaf gene or rare mutation sites, needs further study.