聋病患者线粒体DNA突变检测在指导家系成员氨基糖苷类药物个体化使用中的应用

目的:确定母系遗传家系一聋病患者的线粒体DNA(mtDNA)突变位点, 指导该家系其他成员氨基糖苷类药物的个体化应用。方法:应用PCR 、酶切、电泳和DNA 序列测序技术, 对一个有明确氨基糖苷类抗生素应用史的母系遗传耳聋患者的mtDNA 进行研究。结果:该患者存在mtDNA 1555位点A →G 的突变。结论:提示线粒体DNA点突变是导致该患者致聋的主要因素之一, 该患者的正常听力的兄弟姐妹需慎用氨基糖苷类药物, 该患者后代应禁用氨基糖苷类药物。

Mitochondrial DNA mutation determination for guiding aminoglycosides antibiotics individual application in a maternal inherited deafness family

AIM:To determine a mitochondrial DNA mutation in a maternal inherited deafness family, and guide aminoglycosides antibiotics individual application in other family members.METHODS:PCR-re-striction fragment length polymorphism analysis and DNA sequencing were conducted in a maternal inherited deafness patient with a definite aminoglycosides antibiotics application history.RESULTS:The patient was confirmed with a 1555 A →G mutation in mitochondrial DNA.CONCLUSION:It suggested mitochondrial DNA point mutation is one of the main reasons of deafness, the patient's sib should be cautious to use aminoglycosides antibiotics, and her progeny should be prohibited to use aminoglycosides antibiotics.