广西壮族135例非综合征性聋常见致病基因的研究

发布时间：2018-03-16 06:24

本文选题：壮族　切入点：非综合征性聋　出处：《中华耳科学杂志》2016年05期 　论文类型：期刊论文

【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 AG复合杂合突变2例(1.48%);SLC26A4 IVS7-2 AG杂合突变1例(0.74%),IVS7-2AG/IVS11+47T㧐C/1548ins C复合杂合突变2例(1.48%);GJB3 538CT单杂合突变1例(0.74%),线粒体12S r RNA 1555 AG异质突变1例(0.74%),GJB2 235 del C杂合突变合并SLC26A4 1226 GA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 1229CT纯合突变2例(4.55%),SLC26A4 IVS7-2 AG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㧐C、1548ins C和GJB2 109 AG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。
[Abstract]:Objective to study the mutation characteristics of common deafness genes in 135 cases of non-syndromic deafness in Zhuang nationality in Guangxi. Methods the genetic deafness gene chip kit was used to detect and control deafness in 135 Zhuang people in Guangxi and 44 non-syndromic deafness patients in Han nationality. 15 cases of 4 common deafness genes in the genomic DNA of 44 patients with non-syndromic deafness were studied by using genetic deafness gene chip kit. To detect the mutation sites, Relatively strong, Results the mutation rate of common deafness gene was 11.1115 / 135 in 135patients with non-syndromic deafness in Han nationality, among which GJB2 235del C homozygous mutation was found in 4 patients with homozygous mutation of GJB2 235del C, and single heterozygous mutation was found in 3 patients with GJB2235del C109AG. Two cases of heterozygosity mutation 1. 48% SLC26A4 IVS7-2AG heterozygous mutation 1 case with 0.74% IVS7-2AGR / IVS11 47T? GJB3 538CT single heterozygosity 1 case, mitochondrial 12S r RNA 1555 AG heterozygosity 1 case, GJB235 del C heterozygosity with SLC26A4 1226 GA heterozygosity 1 case of non-syndromic deafness in Han nationality: 0.74%. 44 cases of Han nationality with non-syndromic deafness caused by GJB3538CT heterozygosity mutation, 1 case of mitochondrial 12S r RNA 1555 AG heterozygosity mutation 1 case of GJB235 del C heterozygosity mutation combined with SLC26A4 1226 GA heterozygosity mutation 1 case. The mutation rate was 15.900.The heterozygous mutation of GJB2 235 del C was 6.82% in 3 cases. A case of heterozygous mutation of GJB2 35 del G was found in 2 cases of homozygous mutation of SLC26A4 1229 CT in 2 cases, and one case of heterozygous mutation of SLC26A4 IVS7-2 AG was 2.27%. Conclusion GJB2 and SLC26A4 are the most common mutation loci in non-syndromic deafness patients in Guangxi and 8 mutation sites in SLC26A4. Significantly lower than the national average, Where SLC26A4 IVS11 47T? Cn1548ins C and GJB2 109AG are three newly discovered mutation sites. There is no significant difference in the mutation rate of deafness gene between Zhuang and Han nationality in this area. There may be rare deafness genes in non-syndromic deafness patients of Zhuang nationality in Guangxi. Rare mutation sites, Further study is needed.
【作者单位】：广西壮族自治区人民医院耳鼻咽喉科;广西中医药大学研究生学院;
【基金】：国家自然科学基金资助项目(No:81460097) 广西医疗卫生适宜技术研究与开发课题(No:S201421_05) 广西壮族自治区卫生厅自筹经费科研课题(No:Z2014215及Z2015351及Z2016608)~~
【分类号】：R764.43

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