特发性突聋患者GJB2 235delC突变分析  

The study on 235delC mutation of GJB2 gene in patients with idiopathic sudden hearing loss

作　　者：詹悦 胡钰娟[1] 黄翔[1] 程华茂[1] 郭长凯[1] 肖红俊 师洪[1] 孔维佳[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院耳鼻咽喉科,武汉430022

出　　处：《临床耳鼻咽喉头颈外科杂志》2014年第9期621-623,634,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家重点基础研究发展计划(No:2011CB504504);国家自然科学基金重点项目(No:81230021)

摘　　要：目的:分析GJB2 235delC突变在特发性突聋患者中的发生频率,探寻其与特发性突聋发病的可能相关性。方法:收集234例特发性突聋患者,以同期听力正常的80例体检人员为对照组。分别采外周静脉血,提取基因组DNA,经聚合酶链反应扩增GJB2基因编码区后,用限制性内切酶酶切的方法筛查235delC位点突变,同时对特发性突聋患者的临床资料汇总分析。结果:234例特发性突聋患者中,5例检测出GJB2 235delC杂合突变,突变检出率为2.1%,未检测出235delC纯合突变;对照组中未检出GJB2 235delC突变。2组人群235delC突变检出率差异无统计学意义(P>0.05)。结论:特发性突聋患者中GJB2 235delC突变检出率低,提示该突变位点可能与特发性突聋的发病无相关性。Objective：To analyze the rate o; 235delC mutation in GJB2 gene in patients with idiopathic sudden hearing loss,and to explore its possible correlation with pathogenesis of idiopathic sudden hearing loss. Method： Two hundred and thirty-four patients with diagnosis of idiopathic sudden hearing loss in otolaryngology depart- ment were recruited as experimental group. Eighty people with normal hearing level were enrolled as control group. Their peripheral blood samples were obtained and genomic DNA was extracted. Using polymerase chain reaction, the coding region of GJB2 gene was amplified, and 235delC mutation is screened for in GJB2 gene by restriction endonuclease. At same time the clinical data of 234 patients was collected to analyze. Result：In 234 cases of idiopathic sudden hearing loss, 5 cases were found to have heterozygous 235delC mutation,none of them harbored homozygous 235de1C mutation, the 235delc mutation rate was 2.1; （5/234）. No 235delc mutation was found in control group. The rate of 235delC mutation in two group showed no statistically significant difference （P〉0.05）. Conclusion： This research shows that the rate of 235de1C mutation in GJB2 is low in patients with idiopathic sudden hearing loss,and suggest that 235delc mutation possible has no correlation with idiopathic sudden hearing loss.

关 键 词：聋 GJB2基因 突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]