| 新疆药物性耳聋相关线粒体突变研究 |
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| 引用本文： | 李琦,戴朴,黄德亮,刘新,张昕,朱庆文,袁永一,康东洋.新疆药物性耳聋相关线粒体突变研究[J].中国听力语言康复科学杂志,2008(5):28-30. |
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| 作者姓名： | 李琦 戴朴 黄德亮 刘新 张昕 朱庆文 袁永一 康东洋 |
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| 作者单位： | 1. 南京医科大学附属南京儿童医院耳鼻咽喉-头颈外科,南京,210008
2. 中国人民解放军总医院耳鼻咽喉-头颈外科,北京,100853 |
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| 基金项目： | 国家自然科学基金，教育部留学回国人员科研启动基金，北京市自然科学基金 |
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| 摘 要： | 目的分析新疆维吾尔自治区乌鲁木齐市特教学校非综合征性耳聋mtDNA A1555G和C1494T突变情况。方法对194例耳聋学生进行临床资料采集,外周静脉血抽取。血样经基因组DNA提取,进行线粒体DNA12S rRNA A1555G和C1494T突变的直接测序检测。结果194例患者中共发现A1555G突变者18例,C1494T突变者2例,携带率分别为9.28%（18/194）和1.03%（2/194）。有明确氨基糖甙类抗生素应用史的学生中mtDNA A1555G携带率为6.52%（3/46）,和没有氨基糖甙类抗生素应用史的患者（15/148）相比差别无统计学意义。新疆两个主要民族汉族和维族mtDNA A1555G携带率无显著性差异。结论mtDNA A1555G突变在新疆地区非综合征性耳聋患者中阳性率很高,高于其他国内外相关报道。mtDNA C1494T突变在新疆耳聋人群中的发生频率很低,可以不考虑列为聋病基因的一线常规检测位点。
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| 关 键 词： | 耳聋 基因 线粒体DNA 突变 |
Mitochondrial mutations related to drug-induced hearing loss of patients in Xinjiang |
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| LI Qi,DAI Pu,HUANG Oe-liang,LIU Xin,ZHANG Xin,ZHU Qing-wen,YUAN Yong-yi,KANG Dong-yang.Mitochondrial mutations related to drug-induced hearing loss of patients in Xinjiang[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2008(5):28-30. |
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| Authors: | LI Qi DAI Pu HUANG Oe-liang LIU Xin ZHANG Xin ZHU Qing-wen YUAN Yong-yi KANG Dong-yang |
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| Institution: | LI Qi, DAI Pu, HUANG De-liang, LIU Xin, ZHANG Xin, ZHU Qing-wen, YUAN Yong-yi, KANG Dong-yang |
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| Abstract: | Objective To investigate the prevalence of mitochondrial DNA (mtDNA) A1555G and C1494T mutations in students with non-syndromic hearing loss at the Special Education School of Wulumuqi. Methods The medical histories were gathered from 194 deaf students and the blood samples were obtained at their consents. The mtDNA target fragments were amplified by polymerase chain reaction (PCR). The mutations were detected by sequence analysis. Results The detection rates of mtDNA A1555G and mtDNA C1494T mutations were ... |
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| Keywords: | Hearing loss Genes Mitochondrial DNA Mutation |
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