氨基苷类抗生素致聋家系线粒体基因突变的检测-东南大学学报医学版

氨基苷类抗生素致聋家系线粒体基因突变的检测

单位：东南大学基础医学院生物化学与分子生物学系,江苏南京,210009

分类号：Q343.13, R596.2

出版年·卷·期（页码）：2002·21·第一期（52-55）

摘要：

目的:研究氨基苷类抗生素致聋(AAID)与线粒体基因突变的关系,建立相应的基因诊断方法.方法:应用缺口-连接酶链反应对3个有明确氨基苷类抗生素应用史的耳聋家系(共20例)及56例听力正常个体的线粒体DNA突变进行分析研究.结果:3个家系中的母系成员均检测到线粒体DNA1555位点A→G的阳性突变,而56例正常个体均无突变.结论:AAID与线粒体基因1555位点突变相关,在此基础上建立一种特异、简便、适合批量检测AAID患者的基因诊断方法,为探讨该病发生的分子遗传学机制提供科学依据.

Objective The experiment was designed to research the relationship between mitochondrial DNA(mtDNA) mutation and aminoglycoside antibiotic induced deafenss(AAID) and establish a gene diagnostic method.Method Blood samples were detected from 3 families with aminoglycoside antibiotic induced deafness and 56 persons with normal hearing function by gap ligase chain reaction(G LCR).Result The mtDNA 1555 A→G mutation was detected in the blood samples of matrilineal members from 3 families,whereas no mutation was found in 56 control samples.Conclusion It is necessary to establish a fast and simple gene diagnostic method for mass test in clinical practice. The research of mtDNA point mutation in one case of AAID provides a scientific foundation for studying molecular genetic pathogenesis of AAID.

参考文献：

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