黑龙江省部分地区非综合征型聋患者GJB2、SLC26A4和线粒体DNA 12S rRNA基因检测结果分析

王春英;刘平;崔忠涛;冯淼;徐平;

1:哈尔滨医科大学附属第四医院耳鼻咽喉科

2:黑龙江省医院

摘要
目的调查黑龙江省非综合征型聋(NSHL)患者三种常见聋病易感基因的突变特征。方法对380例NSHL患者(患者组)和202例听力正常人(对照组),采集静脉血DNA,用PCR方法检测GJB2、SLC26A4 2168和IVS7-2A>G位点以及线粒体DNA 12SrRNA基因突变情况。结果所有受试者中共检测出5种GJB2致病突变和2种SLC 26A4致病突变。患者组中,76例(20.01%)患者携带杂合或纯合GJB2 235del C突变,突变率最高,其次为c.299-300del AT,占7.37%(28/380)。SLC26A4基因2168和IVS7-2A>G杂合或纯合突变者分别为14例和27例,包括正常对照组SLC26A4IVS7-2A>G杂合突变4例;患者组中3例为SLC26A4 2168和SLC26A4IVS7-2复合杂合突变。检测出1例NSHL患者线粒体12SrRNAm.1555A>G纯合突变。结论GJB2c.235del C和SLC26A4IVS7-2A>G是黑龙江省部分地区的高发致病基因突变。
关键词
NSHL;GJB2;SLC26A4;12SrRNA
基金项目(Foundation):
黑龙江省自然科学基金项目(D201068)资助
作者
王春英;刘平;崔忠涛;冯淼;徐平;
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王春英刘平崔忠涛冯淼徐平