两个母系遗传氨基糖苷类抗生素致聋家系线粒体DNA 12S rRNA A1555G突变的分子遗传学研究  

Molecular Genetic Study of Two Chinese Pedigrees with Maternally Inherited Hearing Loss Mitochondrial 12S RRNA A1555G Mutation

作　　者：孙艺[1] 杨长亮[1] 罗燕云[1] 阳光[1] 杨慧[1] 朱丽[1] 姚行齐[1] 

机构地区：[1]广州军区武汉总医院耳鼻咽喉科,湖北武汉430070

出　　处：《华南国防医学杂志》2014年第5期435-438,共4页Military Medical Journal of South China

基　　金：国家自然科学基金项目(81200749);湖北省自然科学基金项目(2011CDC102)

摘　　要：目的探讨两个氨基糖苷类药物性耳聋大家系的分子遗传学特征。方法对两个非综合征型感音神经耳聋大家系的成员进行病史调查、全身体检、纯音听阈、声导抗检查;收集、整理临床听力学资料;进行家系遗传学特征的分析并绘制系谱图。收集两个大家系成员的外周静脉血样本,从白细胞中提取基因组DNA,聚合酶链反应扩增,应用直接测序法检测中国人常见的药物性耳聋相关基因——线粒体DNA12S rRNA A1555G突变。结果根据调查两个家系均来自湖北省,所有母系受检者存在线粒体DNA 12S rRNA 1555位点A→G的突变。结论线粒体DNA A1555G点突变是导致两个大家系致聋的主要因素之一,具有母系遗传耳聋特点。Objective To study the molecular etiology of two large Chinese pedigrees with maternally inherited a- mino-glycoside antibiotics-induced deafness based on DNA sequencing. Methods Two large Chinese pedigrees associated with maternally inherited amino-glycoside antibiotics-induced deafness were clinically studied. After obtaining informed consent from all participants in the two families, general medical and audiological examination were performed. Their ge- nomic DNA samples were extracted from isolated leukocytes. The mitochondrial DNA target fragments were amplified by polymerase chain reaction （PCR） to detect the mitochondrial DNA 1555G mutation with the DNA sequencing. Results Eighteen individuals in the two pedigrees carried A → G mutation at the 1555th bp of mitochondrial 12S rRNA. Conclusion The mitochondrial DNA 1555G mutation may be one major factor resulting in aminoglycoside antibiotic-induced deafness in the two Chinese pedigrees.

关 键 词：遗传性耳聋 线粒体基因 氨基糖苷类抗生素 家系 测序 

分 类 号：R764.5[医药卫生—耳鼻咽喉科]