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目的 研究线粒体12S rRNA基因A1555G点突变与氨基糖甙类抗生素致聋遗传易感性的关系,为建立相应的基因诊断方法提供依据。方法 收集了五个有明确氨基糖甙类抗生素应用史的耳聋家系共23名成员的外周静脉血标本,从白细胞中提取DNA,PCR扩增线粒体DNA片段,限制性内切酶分析和DNA序列分析检测A1555G点突变。 结果 五个家系有母系血缘关系的18份样品均为A1555G点突变阳性,5名配偶为A1555G点突变阴性。 结论 线粒体DNA A1555G点突变是氨基糖甙类抗生素致聋遗传易感性最主要的原因,检测A1555G点突变对氨基糖甙类抗生素致聋遗传易感性的预测有重要意义。
Objective To study the relationship between the mitochondrial 12S rRNA gene A1555G point mutation and genetic susceptibility to aminoglycoside-induced deafness, and to provide a basis for establishing the corresponding gene diagnosis method. Methods A total of 23 peripheral venous blood samples of deafness pedigrees with a history of application of aminoglycoside antibiotics were collected. DNA was extracted from white blood cells, mitochondrial DNA fragments were amplified by PCR, restriction endonuclease analysis and DNA sequence analysis A1555G point mutation was detected. Results The 18 samples of five pedigrees with matrilineal relationship were all positive for A1555G point mutation and five were negative for A1555G point mutation. Conclusion A1555G point mutation in mitochondrial DNA is the most important cause of genetic susceptibility to aminoglycoside-induced deafness. It is of great significance to detect the point mutation of A1555G in predicting genetic susceptibility to aminoglycoside-induced deafness.