一个氨基糖苷类抗生素致聋家系线粒体DNA突变研究

Mutation Analysis for the Mitochondrial DNA in a Pedigree with Aminoglycoside Antibiotic Induced Deafness

应用PCR、PCR -SSCP和DNA序列分析等分子生物学技术,对一个有明确氨基糖苷类抗生素应用史的母系遗传耳聋家系共8人(包括聋人和听力正常者)的线粒体DNA进行研究 ,结果显示,家系中有4份样品存在线粒体DNA12SrRNA1555位点A→G的突变。提示线粒体DNA点突变是导致该家系致聋的主要因素之一。

Blood samples were obtained from a pedigree with aminoglycoside antibiotic induced deafness.DNA was extracted from the isolated leukocytes.The mitochondrial DNA fragments were detected by PCR-SSCP and DNA sequencing.It was found that four individuals from the pedigree carried 1 555 A→G mutation.From our results,mitochondrial DNA mutation may be one of major factors in aminoglycoside antibiotic induced deafness.