117例非综合征型耳聋患者的突变分析  

Mutational analysis of 117 patients with non-syndromie hearing loss

作　　者：王雷雷[1] 顾莹[1] 杨舒婷[1] 毛华芬[1] 汤欣欣[1] 许天龙[1] 吴敏[1] 孙玉华 骆秀翠[1] Wang Leilei;Gu Ying;Yang Shuting;Mao Huafen;Tang Xinxin;Xu Tianlong;Wu Min;Sun Yuhua;Luo Xiucui(Lianyungang Maternal and Child Health Care Hospital, Jiangsu 222002, China)

机构地区：[1]江苏省连云港市妇幼保健院,222002

出　　处：《中华医学遗传学杂志》2019年第2期108-111,共4页Chinese Journal of Medical Genetics

基　　金：连云港市卫生局指令性计划项目(1126);江苏省妇幼健康科研项目(F201624);2016年连云港市第五期“521工程”资助项目.

摘　　要：目的 分析苏北地区非综合征型耳聋(non-syndromic hearing loss,NSHL)患者的基因突变情况。 方法 应用Sanger测序技术对117例NSHL患者的GJB2基因编码区、SLC26A4基因的IVS7-2A>G和2168A>G突变以及线粒体DNA 12S rRNA的1555A>G、1494C>T突变位点进行检测。对未发现突变的患者用靶向捕获联合高通量测序技术进行检测。 结果 Sanger测序共发现86例患者(73.50%)携带突变,其中GJB2基因突变61例(52.14%),包括纯合突变22例(18.80%),杂合突变39例(33.33%);SLC26A4基因突变19例(16.24%),其中纯合突变4例(3.42%),杂合突变15例(14.53%);线粒体12S rRNA基因突变6例(5.13%),均属于异质性突变。靶向捕获联合高通量测序在8例患者中共发现4例异常,包括1例RDX基因129_130del和76_79del杂合突变、1例OTOF基因1274G>C纯合突变、1例SLC26A4基因919-2A>G和IVS16-6G>A杂合突变、1例SLC26A4基因919-2A>G和A1673T杂合突变。 结论 苏北地区NSHL患者突变携带率高达73.50%,且以GJB2基因的突变最为常见。Objective To determine the frequencies of deafness gene mutations among patients with non-syndromic hearing loss (NSHL) from northern Jiangsu province. Methods A total of 117 patients with NSHL were enrolled. The coding region of GJB2 gene, IVS7-2A>G and 2168A>G mutations of SLC26A4 gene, and 1555A>G and 1494C>T mutations of mitochondrial DNA 12S rRNA were subjected to Sanger sequencing. Patients in whom no mutation was detected were further tested by targeted gene capture and high-throughput sequencing.Results Among the 117 patients, 86 (73.50%) were found to carry mutations. GJB2 gene mutations were found in 61 patients (52.14%), including 22 (18.80%) with homozygous mutations and 39 (33.33%) with heterozygous mutations. SLC26A4 gene mutations were found in 19 patients (16.24%), including 4 (3.42%) with homozygous mutations and 15 with heterozygous mutations (14.53%). Mitochondrial 12S rRNA gene mutation was found in 6 patients (5.13%). Targeted gene capture and high-throughput sequencing of 8 patients identified 4 further cases, including 1 with RDX gene 129_130del and 76_79del compound heterozygous mutations, 1 with OTOF gene 1274G>C homozygous mutation, 1 with SLC26A4 gene 919-2A>G and IVS16-6G>A compound heterozygous mutation, and 1 with SLC26A4 gene 919-2A>G and A1673T compound heterozygous mutation. Conclusion The frequency of mutation among patients with NSHL from North Jiangsu was 73.50%, and GJB2 gene was most commonly mutated.

关 键 词：非综合征型耳聋 Sanger测序 GJB2基因 SLC26A4基因 12S RRNA基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]