一个非氨基糖甙类抗生素致聋家系mtDNA突变研究  

A mtDNA Gene Mutation Analysis of a Non aminoglycoside Antibiotic?Induced Deafness Family

作　　者：严明[1] 刘宁生[1] 单祥年[1] 武景阳[1] 邢光前[2] 卜行宽[2] 杨焕明[3] 

机构地区：[1]南京铁道医学院生物学教研室,南京210009 [2]江苏省人民医院耳鼻咽喉科,南京210029 [3]中国科学院遗传研究所人类功能基因研究中心,北京100000

出　　处：《南京铁道医学院学报》1999年第3期188-191,共4页Journal of Nanjing Railway Medical College

基　　金：国家自然科学基金

摘　　要：目的：对１ 个有明确母系遗传的非氨基糖甙类抗生素致聋“线粒体耳聋”家系致病的分子生物学机制进行探索。方法：应用 Ｐ Ｃ Ｒ、 Ｐ Ｃ Ｒ Ｓ Ｓ Ｃ Ｐ 和 Ｄ Ｎ Ａ 序列分析等分子生物学技术对其线粒体 Ｄ Ｎ Ａ突变进行研究。结果：家系中全部患者和１ 个母系亲属存在线粒体 Ｄ Ｎ Ａ１２ Ｓｒ Ｒ Ｎ Ａ 基因１５５５ 位点 Ａ Ｇ 的突变，家系中的正常后代和２０ 个正常对照个体未发现突变。结论：线粒体 Ｄ Ｎ Ａ Ａ１５５５ Ｇ 点突变是导致该家系耳聋的主要因素之一。Objective:The experiment was designed to inquire the inheritance type and it's relation to the mtDNA mutation of a non aminoglycoside antibiotic induced deafness family.Method:The mtDNA (the nt1555)of peripheral blood cells was amplified by PCR, combined with PCR?SSCP, PCR?RFLP and sequencing the clone of the PCR product to screen this family.Result:There was a homoplasmic A to G transition at position 1555(A1555G) of the mitochondrial 12S rRNA from all the patients and one matrilineal relative of this family, but it was not found in the family's normal spouse and the normal controls(20 normal people) Conclusion:The A1555G mutation may be one of the major factors in progressive inherited deafness of this family.

关 键 词：母系遗传 耳聋 线粒体DNA 点突变 

分 类 号：R764.430.2[医药卫生—耳鼻咽喉科]