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中文摘要：
目的利用基因筛查的方法调查内蒙古赤峰市特教学校耳聋患者的分子学病因，着重进行线粒体12SrRNA基因序列突变分析。方法调查对象来自赤峰市特教学校耳聋患者134例，对照组为中国北方听力正常者75例。所有受检患者均采集外周血并提取DNA，应用特定引物进行线粒体12SrRNA基因测序，对发现携带线粒体12SrRNA基因突变的患者行详细的病史调查、临床资料分析。结果134例耳聋患者中，1例携带线粒体12SrRNA基因1555A〉G突变。3例携带1095T〉C变异，所有4例突变携带者均有明确的氨基糖苷类药物应用史。对照组中1例携带1095T〉C变异。结论线粒体12SrRNA基因在中国北方散发耳聋人群中具有一定的突变比例，赤峰地区聋哑人群的耳聋病因与线粒体12SrRNA突变关系较密切，1095T〉C变异很可能和1555A〉G突变一样与母系遗传氨基糖苷类药物性聋有密切关系。
英文摘要：
Objective To conduct an analysis of the genetic causes of deaf patients enrolled in a special educational school of Chifeng city, Inner Mongolia by Mitochondria DNA 12SrRNA gene sequencing. Methods DNA were extracted from peripheral blood of 134 deaf probands of Chifeng special educational school and 75 normal hearing controls in Northern China. mtDNA 12SrRNA gene mutation was analyzed by direct sequencing. Individuals found with mtDNA 12SrRNA mutation were asked for further detailed history and family examination as well as clinical data analysis. Results One patient was found carrying mtDNA 12SrRNA 1 555A〉G mutation and three patients were found carrying 1095〉F C mutation. One individual with 1 095T〉C was found in the control group. All of the 4 patients with 12SrRNA gene mutation have the history of using aminoglycosides. Conclusion mtDNA 12SrRNA gene mutations are relatively commom in sporadic hearing loss patients from Northern China. It is one of the main causes of hearing loss in Chifeng. The history of exposure to aminoglycosides in these three hearing--impaired subjects with 1 095T〉C suggested that 1 095T〉C, as well as 1 555A〉G, were related to aminoglycoside induced hearing loss. The aminoglycosides are very likely the cause of hearing loss in the three patients with 1 095T ℃ mutation.
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