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药物性耳聋相关线粒体12S rRNA突变

张旭 田永胜 陈晓巍 姜鸿

张旭, 田永胜, 陈晓巍, 姜鸿. 药物性耳聋相关线粒体12S rRNA突变[J]. 协和医学杂志, 2012, 3(2): 185-189. doi: 10.3969/j.issn.1674-9081.2012.02.012
引用本文: 张旭, 田永胜, 陈晓巍, 姜鸿. 药物性耳聋相关线粒体12S rRNA突变[J]. 协和医学杂志, 2012, 3(2): 185-189. doi: 10.3969/j.issn.1674-9081.2012.02.012
Xu ZHANG, Yong-sheng TIAN, Xiao-wei CHEN, Hong JIANG. Mitochondrial 12S rRNA Mutations Related to Drug-induced Hearing Loss[J]. Medical Journal of Peking Union Medical College Hospital, 2012, 3(2): 185-189. doi: 10.3969/j.issn.1674-9081.2012.02.012
Citation: Xu ZHANG, Yong-sheng TIAN, Xiao-wei CHEN, Hong JIANG. Mitochondrial 12S rRNA Mutations Related to Drug-induced Hearing Loss[J]. Medical Journal of Peking Union Medical College Hospital, 2012, 3(2): 185-189. doi: 10.3969/j.issn.1674-9081.2012.02.012

药物性耳聋相关线粒体12S rRNA突变

doi: 10.3969/j.issn.1674-9081.2012.02.012
详细信息
    通讯作者:

    姜鸿 电话:010-69156316, E-mail:jiang_pumch@yahoo.com.cn

  • 中图分类号: R764.43

Mitochondrial 12S rRNA Mutations Related to Drug-induced Hearing Loss

More Information
  • 摘要:   目的  探讨极重度非综合征性耳聋患者线粒体DNA(mitochondrial DNA, mtDNA)1555A > G和1494C > T突变情况。  方法  选取黑龙江省佳木斯地区聋哑学校学生和北京协和医院门诊散发的极重度感音神经性耳聋患者共208例作为研究对象, 使用基因芯片方法和限制性内切酶法对其mtDNA 1555和1494两个位点进行检测, 并用直接测序的方法进行验证。  结果  208例患者中共发现1555A > G突变者10例, 该突变的携带率为4.81%;未发现1494C > T突变。  结论  mtDNA 1555A > G突变在极重度非综合征性耳聋患者中阳性率较高, 而在汉族人群中1494C > T突变较为罕见。
  • 图  1  线粒体12S rRNA基因突变的基因芯片检测结果

    A.野生型; B. 1555A>G均质突变

    图  2  线粒体12S rRNA基因突变的限制性内切酶法检测结果

    M. DNA分子量标准; 1.正常人; 2 ~ 3.线粒体DNA 1555A>G突变患者

    图  3  线粒体12S rRNA基因突变的直接测序法检测结果

    箭头所示为线粒体DNA 1555位点; A.野生型; B. 1555A>G均质突变

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出版历程
  • 收稿日期:  2012-01-11
  • 刊出日期:  2012-04-30

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