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12SrRNA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.

abstractsObjective 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 SLCg6A4 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.