遗传 ›› 2009, Vol. 31 ›› Issue (7): 705-721.doi: 10.3724/SP.J.1005.2009.00705

• 研究报告 • 上一篇    下一篇

非综合征性耳聋(NSHL)患者Cx26基因突变分析及两种突变体的亚细胞定位

李景之1;胡艺俏1;王树辉2;陈红胜2;潘乾1;夏昆1;胡正茂1;冯永2   

  1. 1. 中南大学医学遗传学国家重点实验室, 长沙 410078;
    2. 中南大学湘雅医院耳鼻咽喉科, 长沙 410008
  • 收稿日期:2008-11-20 修回日期:2009-01-07 出版日期:2009-07-10 发布日期:2009-07-10
  • 通讯作者: 胡正茂;冯永

Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants

LI Jing-Zhi1;HU Yi-Qiao1;WANG Shu-Hui2;CHENG Hong-Sheng2;PAN Qian1;XIA Kun1;HU Zheng-Mao1;FENG Yong2   

  1. 1. State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China;
    2. Department of Otorhinolaryngology, Xiangya Hospital, Central South University, Changsha 410008, China
  • Received:2008-11-20 Revised:2009-01-07 Online:2009-07-10 Published:2009-07-10
  • Contact: HU Yi-Qiao;FENG Yong

摘要: 为分析中国人群非综合征性耳聋(Nonsyndromic hearing loss, NSHL)患者Cx26基因的突变情况和特性, 研究其中两种突变的亚细胞定位情况, 文章运用PCR直接测序的方法对139例无亲缘关系的NSHL患者进行突变筛查, 将两种突变p.F115C和p.V37I构建到pEGFP表达载体, 并转染Hela细胞, 研究其细胞表达和定位情况。在139例无亲缘关系的NSHL患者中, 31例患者检测到Cx26基因突变, 检出率为22.3%。一共检测到10种不同类型的碱基变异, 包括6种突变和4种多态, 其中包括1种未见报道的新变异p.F115C。p.F115C和p.V37I两种突变体转染Hela细胞后, 亚细胞定位情况与野生型无差异, 初步研究表明这两种突变不影响该蛋白形成细胞间隙连接通道。

关键词: 间隙连接, 听力损伤, Cx26基因

Abstract: To analyze the frequencies and characteristics of Cx26 gene mutations in Chinese patients with nonsydromic hearing loss (NSHL) and investigate the intracellular localization of two mutants, 139 unrelated familial cases with non-syndromic hearing loss were screened for mutation in Cx26 gene by direct sequencing. Two mutants, p.F115C and p.V37I, were structured into pEGFP vectors and transfected into Hela cells to detect their expression and fluorescent local-ization in cells. Cx26 variations were detected in 31 patients, with a detection rate of 22.3%. The 10 variations included 6 types of mutations and 4 types of polymorphisms. A novel variation p.F115C was found. The fluorescent localization assay of the two mutants p.F115C and p.V37I showed no difference from the wild-type, indicating that both mutants did not im-pair the formation of the gap junctions.