特发性突聋患者GJB2 235delC突变分析

詹悦; 胡钰娟; 黄翔; 程华茂; 郭长凯; 肖红俊; 师洪; 孔维佳

doi:10.13201/j.issn.1001-1781.2014.09.010

特发性突聋患者GJB2 235delC突变分析

- 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)
基金项目:
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)

详细信息

通讯作者: 师洪; 孔维佳, E-mail:entwjkong@hust.edu.cn

中图分类号: R764.43

收稿日期: 2013-12-23

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

- Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China

More Information

Corresponding authors: SHI Hong ; KONG Weijia

Received Date: 23 December 2013

摘要

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。
- 聋 /
- GJB2基因 /
- 突变
Abstract: Objective:To analyze the rate of 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 department 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 235delC 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 235delC 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.
- hearing loss /
- GJB2gene /
- mutation

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参考文献(18)

[1]	余力生, 杨仕明.突发性聋诊疗进展[J].中华耳鼻咽喉头颈外科杂志, 2013, 48 (6):432-435.
[2]	宋攀攀, 张琼敏, 王延藏, 等.遗传性耳聋相关基因在突发性耳聋发病中的作用[J].温州医学院学报, 2013, 43 (4):211-214.
[3]	BORA A, ALTUNTAS E E, OZDEMIR O, et al.[Genetic constitution analysis of idiopathic sudden hearing loss] [J].Kulak Burun Bogaz Ihtis Derg, 2010, 20:219-225.
[4]	OUYANG X M, YAN D, YUAN H J, et al.The genetic bases for non-syndromic hearing loss among Chinese[J].J Hum Genet, 2009, 54:131-140.
[5]	中华耳鼻咽喉头颈外科杂志编辑委员会, 中华医学会耳鼻咽喉头颈外科学分会.突发性聋的诊断和治疗指南 (2005年, 济南)[J].中华耳鼻咽喉头颈外科杂志, 2006, 41 (8):569-570.
[6]	中国突发性聋多中心临床研究协作组.中国突发性聋分型治疗的多中心临床研究[J].中华耳鼻咽喉头颈外科杂志, 2013, 48 (5):355-361.
[7]	NISHIO N, TERANISHI M, UCHIDA Y, et al.Contribution of complement factor H Y402H polymorphism to sudden sensorineural hearing loss risk and possible interaction with diabetes[J].Gene, 2012, 499:226-230.
[8]	GORUR K, TUNCER U, ESKANDARI G, et al.The role of factor V Leiden and prothrombin G20210A mutations in sudden sensorineural hearing loss[J].Otol Neurotol, 2005, 26:599-601.
[9]	UCHIDA Y, SUGIURA S, ANDO F, et al.Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with sudden sensorineural hearing loss[J].Laryngoscope, 2010, 120:791-795.
[10]	FUSCONI M, CHISTOLINI A, ANGELOSANTO N, et al.Role of genetic and acquired prothrombotic risk factors in genesis of sudden sensorineural hearing loss[J].Audiol Neurootol, 2011, 16:185-190.
[11]	PUTCHA G V, BEJJANI B A, BLEOO S, et al.A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort[J].Genet Med, 2007, 9:413-426.
[12]	于飞, 戴朴, 韩东一, 等.中国部分地区非综合征型耳聋患者GJB2基因233-235delC突变频率分析[J].中国耳鼻咽喉头颈外科, 2006, 13 (3):223-226.
[13]	DAI P, YU F, HAN B, et al.GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment[J].J Transl Med, 2009, 7:26-34.
[14]	ENGEL-YEGER B, ZAAROURA S, ZLOTOGORA J, et al.The effects of a connexin 26 mutation——35delG-on oto-acoustic emissions and brainstem evoked potentials:homozygotes and carriers[J].Hear Res, 2002, 163:93-100.
[15]	李琦, 方如平, 王国建, 等.GJB2235delC单杂合突变携带者的纯音测听评估[J].中华耳鼻咽喉头颈外科杂志, 2011, 46 (7):543-546.
[16]	LIN R J, KRALL R, WESTERBERG B D, et al.Systematic review and meta-analysis of the risk factors for sudden sensorineural hearing loss in adults[J].Laryngoscope, 2012, 122:624-635.
[17]	王国建, 袁永一, 李荣, 等.不同听力学表型人群中常见耳聋基因突变检出率的分析[J].临床耳鼻咽喉头颈外科杂志, 2011, 25 (10):445-448.
[18]	朱玉华, 翟所强, 戴朴, 等.携带GJB2基因突变中老年人的听力学特点分析[J].听力学及言语疾病杂志, 2009, 17 (2):133-134.