湖南郴州非综合征型聋患者GJB2、SLC26A4和线粒体DNA12SrRNA基因突变分析

The Mutation Analysis of GJB2,SLC26A4 and mtDNA12SrRNA Gene in Patients with Nonsyndromic Sensorineural Hearing Loss in Chenzhou,Hunan Province

胡鹏;邓忠;谭东辉;赖若沙;朱发梅;谢鼎华;

1:中南大学湘雅二医院耳鼻咽喉科

2:湘南学院附属医院耳鼻咽喉科

摘要
目的探讨湖南郴州非综合征型聋患者的分子病因特点。方法采取湖南郴州154名非综合征型聋患者的外周血,提取DNA,采用基因芯片筛查GJB2、SLC26A4和线粒体DNA12SrRNA基因的热点突变,基因芯片法未确诊的样本则采用DNA测序法进一步检测。结果两种方法共在34例(22.08%,34/154)患者中检出7种GJB2基因突变,其中235delC(13.63%,21/154)发生率最高,其次是299delAT(9.09%,14/154);在8例伴有大前庭水管的患者中检测出7种SLC26A4基因突变,包括一种新突变Q696X;3例患者被检出线粒体DNA12SrRNA基因突变。结论湖南郴州非综合征型聋患者中GJB2、SLC26A4和线粒体DNA12SrRNA基因突变的发生率与中国大部分地区相似,Q696X为新发现的SLC26A4基因突变。
关键词
非综合征型聋;基因;突变;基因芯片
基金项目(Foundation):
国家自然科学基金面上项目(81100716和30070807);; 湖南省十一五期间人工耳蜗植入援助计划资助研究项目
作者
胡鹏;邓忠;谭东辉;赖若沙;朱发梅;谢鼎华;
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