母系遗传氨基糖苷类抗生素致聋家系的线粒体DNA突变分析  

Mutation Analysis for Mitochondrial DNA in a Chinese Pedigree with Maternally Inherited Aminoglycoside Antibiotic-Induced Deafness

作　　者：王沙燕 高国凤 张阮章 石之驎 戴勇 任景慧 

机构地区：[1]暨南大学附二院广东省深圳市人民医院遗传室,广东深圳518020

出　　处：《中国医师杂志》2005年第2期184-185,共2页Journal of Chinese Physician

摘　　要：目的　确定母系遗传氨基糖苷类抗生素致聋家系的线粒体DNA突变位点 ,并研究其临床表型。方法　应用PCR和DNA序列分析技术 ,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 18人 (包括聋人和听力正常者 )的线粒体DNA进行研究。结果　该家系中有 9份样品存在线粒体DNA 12SrRNA15 5 5位点A→G的突变 ,其余样品为 15 5 5G点突变阴性。结论　提示线粒体DNA点突变是导致该家系致聋的主要因素之一。Objective To detect mutation of mitochondrial DNA in a chinese pedgree with maternally inherited aminoglycoside antibiotic-induced deafness. Methods The mutation of mitochondrial DNA from all 18 family members of a chinese pedigree with maternally inherited aminoglycoside antibiotic-induced deafness was detected by PCR and DNA sequencing. Results Nine individuals in this pedigree carried A→G mutation at the 1555th bp of mitochondrial 125 rRNA, and the others did not have this mutation. Conclusion Mitochondrial DNA mutation may be one of major factors resulted in aminoglycoside antibiotic-induced deafness in this pedigree.

关 键 词：家系 氨基糖苷类抗生素 线粒体DNA突变 点突变 母系遗传 听力正常 临床表型 12SrRNA 位点 DNA序列分析 

分 类 号：R764.4[医药卫生—耳鼻咽喉科]