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氨基甙类抗生素耳毒性与线粒体基因突变分析
引用本文:柯肖枚,戚豫,顾之平,张正国,张伍玲,姜苏敏,刘洁芬. 氨基甙类抗生素耳毒性与线粒体基因突变分析[J]. 临床耳鼻咽喉头颈外科杂志, 1999, 0(5): 195-197
作者姓名:柯肖枚  戚豫  顾之平  张正国  张伍玲  姜苏敏  刘洁芬
作者单位:1. 北京医科大学第一医院耳鼻咽喉科,北京,100034
2. 北京医科大学第一医院临床遗传中心
3. 中国医学科学院基础所
4. 北京市儿童医院耳鼻咽喉科
5. 北京市第一聋校
摘    要:进一步证明遗传因素对氨基甙类抗生素耳毒性的作用,探讨该病的发病机理。方法应用PCR限制性酶切方法分析了9个氨基甙类抗生素致聋家系中62个成员线粒体DNA。结果发现5个家系中20例线粒体DNA22SrRNA基因第1555位A→G点突变。结论该突变是氨基甙类抗生素耳毒性遗传易感性的分子生物学基础。可能有其他他粒体DNA基因突变与氨基甙类抗生素耳毒性有关。

关 键 词:氨基糖苷抗生素类  耳毒性  线粒体DNA  基因突变

Aminoglycoside ototoxicity associated with mitochondrial DNA mutation
Affiliation:Department of Otolaryngology, First Hospital, Beijing Medical University, Beijing 100034.
Abstract:Objective:To confirm the effect of genetic susceptibility to aminoglycoside ototoxicity. Method:Mitochondrial DNA(mtDNA) from 62 members of 9 aminoglycoside induced deafness families was analysed byPCR-Restriction endonuclease digestion. Result:The nucleotide 1555A G mutation in 12S rRNA gene of mtD-NA was identified in 20 members of 5 families. Conclusion:These findings indicate that this mutation is a molecular basis for genetic susceptibility to the ototoxic effect of aminoglycosides. The relationship between the au-diovestibular changes and genetic susceptibility to aminoglycoside ototoxicity and the pathogenetic mechanism ofsusceptible deafness are discussed. The possibility that other gene mutations can also predispose to aminoglycoside ototoxicity is proposed.
Keywords:Aminoglycoside Ototoxicity Mitochondrial DNA Gene mutation  
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