应用LCR技术检测氨基糖甙类抗生素致聋家系线粒体基因的突变

Detection of Mitochondrial Gene Mutation in an Aminoglycoside Antibiotic?Induced Deafness Family by Ligase Chain Reaction

目的：研究线粒体 Ｄ Ｎ Ａ 突变与氨基糖甙类抗生素致聋（ Ａ Ａ Ｉ Ｄ） 的关系，建立相应的基因诊断方法。方法：应用连接酶链反应（ Ｌ Ｃ Ｒ） 对一个 Ａ Ａ Ｉ Ｄ 家系的所有成员（ 共１１ 人） 及５６ 例听力正常对照个体的线粒体 Ｄ Ｎ Ａ（ｍｔ Ｄ Ｎ Ａ） 突变进行研究。结果： Ａ Ａ Ｉ Ｄ 家系中检出７ 例突变个体，而５６ 例听力正常对照个体均无突变。结论：本研究建立了一种特异、简便、适合批量检测 Ａ Ａ Ｉ Ｄ 中ｍｔ Ｄ Ｎ Ａ 点突变的方法，通过对一个 Ａ Ａ Ｉ Ｄ 家系ｍｔ Ｄ Ｎ Ａ 点突变的研究，为探讨 Ａ Ａ Ｉ Ｄ 发病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 deafness (AAID) and establish a gene diagnostic method. Method:Blood samples were detected from a pedigree with aminoglycoside antibioticinduced deafness and 56 persons with normal hearing function by ligase chain reaction (LCR).Result: Mutation was found in 7 cases from the pedigree with aminoglycoside antibiotic induced deafness, 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 of one case of AAID provides a scientific foundation for studying moleculoar genetic pathogenesis of AAID.