氨基糖甙类抗生素致聋家系线粒体DNA A1555G突变分析  

Screening for the mitochondrial A1555G mutation in five families with aminoglycoside antibiotic induced deafness

作　　者：曹菊阳[1] 张忻[1] 康东洋[1] 戴朴[1] 袁慧军[1] 韩东一[1] 杨伟炎[1] 

机构地区：[1]解放军总医院耳鼻咽喉研究所,北京,100853

出　　处：《中国听力语言康复科学杂志》2004年第6期18-20,共3页Chinese Scientific Journal of Hearing and Speech Rehabilitation

摘　　要：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 identify whether the A1555G mutation is the pathologic mitochondrial DNAmutation associated with aminoglycoside antibiotic induced-deafness, and to provide theoretical evidence forestablishing diagnostic method for this disease.Method Blood samples were obtained from three pedigreeswith aminoglycoside antibiotic induced-deafness. DNA was extracted from the isolated leukocytes. Themitochondrial DNA fragments were amplified by PCR, A1555G mutation was detected by restriction endonu-clease digestion and DNA sequencing. Result Thirteen individuals from 5 AAID families carried homoplasmicA1555G mutation. Five spouses from those families do not have A1555G mutation. Conclusion A1555Gmutation is the main pathologic mitochondrial DNA mutation associated with aminoglycoside antibioticinduced-deafness. It is very helpful to identify prospectively patients who are likely to be hypersensitive toaminoglycoside ototoxicity by screening A1555G mutation.

关 键 词：耳聋 线粒体DNA 基因突变 耳毒性 氨基糖甙类抗生素 

分 类 号：R764[医药卫生—耳鼻咽喉科]