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

作　　者：王为未[1] 张丽珊[1] 黄鹰[1] 周晓雷[1] 洪泽辉[1] 龚嫦虹 黄志纯[1,2] 

机构地区：[1]南京铁道医学院生物教研室 [2]南京铁道医学院附属医院耳鼻喉科,南京210009

出　　处：《遗传》2000年第2期78-80,共3页Hereditas（Beijing)

基　　金：江苏省科委资助项目

摘　　要：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.

关 键 词：线粒体DNA 氨基糖苷抗生素致聋 基因突变 

分 类 号：R394.6[医药卫生—医学遗传学]