187例非综合征型耳聋患者的GJB2基因突变分析

Analysis of GJB2 mutation among 187 patients with non-syndromic hearing loss

目的对温州地区非综合性耳聋患者行GJB2基因突变检测,探讨本地区耳聋患者GJB2基因突变图谱。方法收集187例非综合征型耳聋患者的外周血及临床资料,采用Sanger测序技术检测上述患者的GJB2基因编码区序列。测序数据用DNAstar软件读取,并用Seq Man软件将所测序列与NCBI中的基因标准序列进行比对分析。结果 187例非综合征型耳聋患者中58例存在GJB2基因突变,占比31.02%;其中可明确诊断47例,占比25.13%;检出8种致病突变,其中检出率最高的3种突变分别为c.235delC、c.109G> A以及c.299_300delAT。结论 GJB2基因突变是温州地区非综合征型耳聋患者的主要致聋原因,其基因突变图谱与我国其他地区群体相似;GJB2全编码测序能检出热点以外的罕见突变,提高GJB2基因突变诊断率。

Objective GJB2 gene mutation was detected in non-syndromic hearing loss(NSHL)patients in Wenzhou area to explore the map of GJB2 gene mutation in this area.Methods The blood samples and clinical data of 187 patients with NSHL were collected.GJB2 coding region sequences were detected among all patients by Sanger sequencing.The sequencing data were read by DNAstar,and then compared with NCBI standard sequences by using Seqman software.Results GJB2 mutations were detected in 58 patients with 31.02%frequency of the entire cohort.Among them,47 patients can be diagnosed by molecular etiological detection.Eight pathogenic mutations were detected in our patients.Among of them,c.235delC,c.109G>A and c.299_300delAT were the most prevalent.Conclusion GJB2 is one of the primary deafness-causing genes in patients with NSHL from Wenzhou area;the mutation spectrum is consistent with what is observed in most Chinese populations.Rare mutations can be detected by sequencing of whole coding region sequences of GJB2,which could contribute to improve mutation detection rate among the deafness population.