【摘要】 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。更多还原

【Abstract】 Objective To investigate mutation characteristics of common deafness genes in 150 patients of Zhuang nationality with non-syndromic hearing loss in Guangxi region to help prevention and treatment of deafness. Methods Fifteen mutation sites in four deafness-associated genes were tested using a deafness gene mutations test kit in 135 hearing impaired patients of Zhuang nationality and 44 ethnic Han patients. The differences in gene mutations between the two groups were compared. Results Among the 135 Zhuang patients with non-syndromic deafness, the total mutation detection rate was11.11%(15/135), including homozygous GJB2 235 del C mutation in 4 cases(2.96%),235 del C single heterozygous mutation in 3 cases(2.22%),GJB2 235 del C and 109 A>G mutations in 2 cases(1.48%), SLC26A4 IVS7-2A>G heterozygous mutation in 1 case(0.74%),IVS7-2A>G, IVS11+47T﹥C and 1548 ins C mutations in 2 cases(1.48%), GJB3 538C﹥T hetero-zygous mutation in 1 case(0.74%), mitochondrial 12 S r RNA 1555A>G heterogenous mutation in 1 case(0.74%), and GJB2 235 del C and SLC26A4 1229C>T heterozygous mutations in 1 case(0.74%). The total mutation rate in Han patients was 15.90%(7/44), including GJB2 235 del C heterozygous mutation in 3 cases(6.82%), 35 del C heterozygous mutation in 1case(2.27%), SLC26A4 1229C>T homozygous mutation in 2 cases(4.55%), and IVS7-2A>G 1 case(2.27%). No differences were found between these two groups. Conclusion The results indicate that GJB2 and SLC26A4 were the main mutation genes among the Zhuangs in Guangxi region. The mutation rate of major deafness genes is significantly lower than the national average level. Three noval mutations(SLC26A4 IVS11+47T﹥C, 1548 ins C and GJB2 109A>G) are found in this study. No differences in deafness gene mutation patterns are found between the Zhuang and Han groups in Guangxi. Rare mutations of deafness genes and gene sites may be responsible for non-syndromic deafness among some Zhuang patients in Guangxi region.更多还原