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| 非综合征型耳聋线粒体基因突变的检测 | |
| 引用本文： | 刘涛,李建瑞,严江伟,李玲香,王利伟.非综合征型耳聋线粒体基因突变的检测[J].中国医药导报,2011,8(28):19-21. |
| 作者姓名： | 刘涛 李建瑞 严江伟 李玲香 王利伟 |
| 作者单位： | 1. 北京市垂杨柳医院耳鼻咽喉科,北京,100022 2. 中国科学院北京基因组研究所,北京,100029 3. 内蒙古医学院附属医院耳鼻喉科,内蒙古呼和浩特,010059 4. 北京市垂杨柳医院耳鼻咽喉科,北京,100022;内蒙古医学院附属医院耳鼻喉科,内蒙古呼和浩特,010059 |
| 基金项目： | 北京市自然科学基金，北京市垂杨柳医院科研启动基金 |
| 摘 要： | 目的：通过分析内蒙古鄂尔多斯市特殊教育学校非综合征型耳聋患者群体中mtDNA 12SrRNA A1555G突变,以探讨该群体与线粒体突变的关系。方法：对鄂尔多斯市特殊教育学校102名非综合征型耳聋患者进行耳聋病因问卷调查、纯音听阈测试、声导抗测试、提取外周血DNA,聚合酶链反应扩增mtDNA目的片段,对扩增片段进行限制性内切酶检测,对阳性标本进行DNA序列分析。结果：该校102名学生中,全部为感音性耳聋,其中54例使用过氨基糖苷类抗生素,7例（6.9%）存在线粒体基因A1555G位点突变。结论：该群体线粒体A1555G位点的突变率高于以往的报道,携带有该突变的个体对氨基糖苷类抗生素有高度易感性,该基因突变是感音神经性耳聋的原因之一。 |
| 关 键 词： | 耳聋 线粒体DNA 突变 |
Molecular genetic analysis of mtDNA mutation in patients with non-syndromic hearing loss |
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| LIU Tao,LI Jianrui,YAN Jiangwei,LI Lingxiang,WANG Liwei.Molecular genetic analysis of mtDNA mutation in patients with non-syndromic hearing loss[J].China Medical Herald,2011,8(28):19-21. | |
| Authors: | LIU Tao LI Jianrui YAN Jiangwei LI Lingxiang WANG Liwei |
| Institution: | LIU Tao1,LI Jianrui1,YAN Jiangwei2,LI Lingxiang3,WANG Liwei1,3 1.Department of ENT,Beijing Chuiyangliu Hospital,Beijing 100022,China,2.Beijing Genomics Institute of Chinese Academy of Sciences,Beijing 100029,3.Department of ENT,Affiliated Hospital of Inner Mongolia Medical College,the Inner Mongolia Autonomous Region,Hohhot 010059 |
| Abstract: | Objective: To analyze the prevalence of mtDNA 12SrRNA A1555G mutation in patients with non-syndromic hearing loss in Erdos,to investigate the relationship between the group and the mitochondrial mutations.Methods: The medical history of 102 students with non-syndromic deaf in Erdos was collected by a questionnaire survey.The audiological examination was conducted with pure-tone audiometry(Madsen Orbiter 922) and acoustic immittance measurement(Madsen ZODIAC 901).mtDNA 12SrRNA A1555G mutation was identified ... |
| Keywords: | Hearing loss Mitochondrial DNA Mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |