值得关注的线粒体12SrRNA C1494T突变——药物敏感致聋靶点
A Noteworthy Mitochondrial DNA Mutation,12SrRNA C1494T-a Sensitive Molecular Site for the Drug-induced Hearing Loss
王秋菊;韩明鲲;刘晓雯;鲍晓林;赵亚丽;王大勇;兰兰;赵翠;韩东一;
1:解放军总医院耳鼻咽喉-头颈外科
2:解放军耳鼻咽喉科研究所
3:国家人类基因组北方研究中心
4:兰州大学第二医院耳鼻咽喉-头颈外科
摘要关键词基金项目(Foundation):作者参考文献1Zhao H,Li R,Wang Q,et al.Maternallyinherited aminogly-coside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial12S rRNA genein alarge Chinese family[J].AmJ Hum Genet,2004,74:139.
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3Wang Q,Li QZ,Han D,et al.Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-in-duced and nonsyndromic hearingloss associated with the mito-chondrial12S rRNA C1494T mutation[J].Biochem Biophys Res Commun,2006,340:583.
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7Finsterer J,Fellinger J.Nuclear and mitochondrial genes mu-tatedin nonsyndromic impaired hearing[J].Int J Pediatr Oto-rhinolaryngol,2005,69:621.
8Li R,Xing G,Yan M,et al.Cosegregation of C-insertion at position961with A1555G mutation of mitochondrial12SrRNA gene in a large Chinese family with maternally inherited hear-ing loss[J].AmJ Hum Genet,2003,124:113.
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