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人工耳蜗植入患者的缝隙连接蛋白相关基因(GJB2)突变分析 被引量：5

Analysis of GJB2 mutation of cochlear implant recipients
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摘要 目的探讨人工耳蜗植入患者的缝隙连接蛋白相关基因(gapjunctionproteinbeta2,GJB2)突变情况,分析耳聋的遗传学发病机制。方法对接受人工耳蜗植入的241例患者进行聋病基因GJB2基因突变筛查。结果241例人工耳蜗植入患者中检测出65例GJB2基因突变,其中1例为新发现突变GJB2235delC/598G>A。结论人工耳蜗植入患者中GJB2基因突变的发生率为27.0%,GJB2基因突变是人工耳蜗植入人群中耳聋的主要致病因素之一。 Objective To investigate gap junction protein beta 2 （GJB2） mutations and to analyze the molecular pathogenesis of deafness from 241 cochlear implant （CI） recipients. Methods Analyzed was GJB2 （C×26） gene of 241 cochlear implant recipients from the department of 301 PLA Hospital. Results Among 241 deaf patients, 65 were found to have GJB2 mutation. One novel mutation, GJB2 235delC/598G〉A, was identified in this study. Conclusion The most frequently occurring mutations were found in the C×26 （65/241, 27.0%）.GJB2 gene mutation is one of the major causes for autosomal recessive non-syndromic hearing impairment （NSHI） in cochlear implant recipients.
作者 刘军 戴朴 韩东一 于飞 杨仕明 王国建 武文明 黄德亮 洪梦迪 康东洋 张昕
机构地区 解放军总医院耳鼻咽喉-头颈外科
出处 《中国听力语言康复科学杂志》 2008年第3期16-19,共4页 Chinese Scientific Journal of Hearing and Speech Rehabilitation
基金 解放军总医院科技创新基金(06ZY13) 国家自然科学基金面上项目(30572015) 国家自然科学基金面上项目(30572016) 北京市自然科学基金面上项目(7062062) 北京市自然科学基金重大项目(7070002) 863计划课题(2006AA02Z181) 首都医学发展科研基金(2005-1032)
关键词 GJB2 基因突变 人工耳蜗植入 遗传性耳聋 GJB2 gene Gene mutation Cochlear implantation（CI） Hereditary hearing impairment
分类号 R764 [医药卫生—耳鼻咽喉科]
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参考文献26

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二级参考文献27

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中国听力语言康复科学杂志
2008年 第3期

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