特发性突聋患者GJB2 235delC突变分析

发布时间：2018-03-06 12:23

本文选题：聋　切入点：GJB基因　出处：《临床耳鼻咽喉头颈外科杂志》2014年09期 　论文类型：期刊论文

【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(P0.05)。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。
[Abstract]:Objective: to analyze the GJB2 235delC mutation frequency in patients with idiopathic sudden deafness in, explore its possible correlation with idiopathic sudden deafness. Methods: 234 patients with sudden deafness, 80 cases of normal hearing examination personnel over the same period as the control group. Peripheral venous blood were collected, extracted genomic DNA by polymerase chain reaction amplification of GJB2 gene encoding region, screening method for 235delC gene by restriction endonuclease mutations and clinical data of idiopathic sudden deafness patients collected and analyzed. Results: 234 cases of idiopathic sudden deafness patients, 5 cases detected GJB2 235delC heterozygous mutation, mutation the detection rate was 2.1%, no detectable 235delC homozygous mutation was not detected in the control group; GJB2.2 group 235delC 235delC mutation mutation detection rate no significant difference (P0.05). Conclusion: the specific mutation detection rate of low GJB2 235delC deafness patients, suggesting that the mutation There is no correlation between the loci and the onset of idiopathic sudden deafness.

【作者单位】：华中科技大学同济医学院附属协和医院耳鼻咽喉科;
【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)
【分类号】：R764.43

【参考文献】