福建省486例耳聋患者致聋原因及线粒体DNA突变分析

Analysis of the mitochondrial mutation and the Etiologies of 486 Deaf Patients in Fujian Province

程祖建;杨滨;江凌;刘奇才;陈静;陈勇;欧启水;

1:福建医科大学附属第一医院检验科福建医科大学基因诊断研究室

摘要
目的分析486例耳聋患者的致聋原因,探讨线粒体DNA(mitochondrial DNA,mtDNA)突变与耳聋的关系。方法对486例耳聋患者进行病因学调查,并同时进行线粒体DNA1 555、3 243、7 445突变位点的检测。结果486例中发现家族遗传性聋126例(25.9%),药物性聋221例(45.5%),近亲结婚致聋39例(8.02%),高热或耳部疾病致聋76例(15.6%),不明原因致聋24例(4.9%);在486例耳聋患者中,mtDNA A1 555G突变阳性44例,突变阳性率为9.05%,其中32例为同质性突变,12例为异质性突变;检出1例mtDNA G7 444A突变;所有样本均未检出mtDNA A3 243G、mtDNA A7 445G突变。结论遗传因素和使用耳毒性药物是导致耳聋的重要原因,mtDNA A1 555G突变是常见的突变形式,是氨基糖苷抗生素致聋的重要原因。
关键词
耳聋;流行病学;线粒体DNA
基金项目(Foundation):
福建医科大学研究发展基金资助项目(FJGXY04005)
作者
程祖建;杨滨;江凌;刘奇才;陈静;陈勇;欧启水;
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