鄂西苗族氨基糖甙类抗生素致聋患者的mtDNA1555位点突变研究  

Study on aminoglycoside antibiotics induced deafness patients' mtDNA1555 mutation among Exi Miao people.

作　　者：陈沛伟 龙华梅 邓艳春 刘忠 岳小平 付四清[2] 

机构地区：[1]湖北省恩施土家族,苗族自治州中心医院,恩施445000 [2]华中科技大学同济医学院医学遗传学研究室,武汉430030

出　　处：《中国优生与遗传杂志》2004年第4期21-22,41,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　为探讨遗传因素在鄂西苗族氨基糖甙类抗生素致聋 (AAID)发生中的作用 ,从分子水平研究该病的发病机制。方法　对鄂西苗族部分家系及医学散发病例通过问卷调查和进行听力测试 ,确诊为AAID的 82名患者 ,采外周血作PCR -RFLP分析 ,对照组为正常苗族 5 0名。结果　 82名患者中 2 7例具有mtDNA15 5 5 A→G异质性突变 ,10例为均质性突变 ,该位点突变率为 4 5 1% ,其中异质性突变占 72 9% ,而对照组均无此突变。结论　mtDNA15 5 5 A→G突变是鄂西苗族个体对氨基糖甙类抗生素易感致聋的分子基础 。Objective: This essay is to study hereditair factor's function in AAID cases among Exi Miao people, and research into the disease-orming mechanism from the level of the molecule. Methods: By means of questionaire and aaural test on distribution cases among Exi Miao people, 82 AAID patients had been made a definite diagnosis, With blood samples taken from them for PCR-RFLP analysis, and with 50 normal local miao people as a contrasting group at the same time. Results: 27 mtDNA1555 A→G heterocytonic and 10 purecytonic mutations are found in 82, the mutation rate is 45.1%, the heterocytonic mutation any mutations in the contrasting group. Conclusion: AAID among Exi Miao individuals in on the molecular basis of mtDNA1555 A→G mutations. The incidence of heterocytonic mutations is relatively high among local Miao AAID minority people.

关 键 词：氨基糖甙类抗生素致聋 线粒体DNA 异质性突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]