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目的:分析西北地区非综合征性耳聋人群中线粒体DNA A1555G突变发生频率。方法:通过标准化的流行病学调查设计、行政组织、标本采取和线粒体DNA 12SrRNA A1555G筛查方法进行西北5个省市自治区的重度感音神经性耳聋患者的一般情况和分子病因学调查。结果:收集来自西北5个省市573例非综合征性重度至极重度感音神经性耳聋病例,筛查出线粒体DNA 12SrRNA A1555G突变病例31例。结论:在西北五省,线粒体DNA 12SrRNA A1555G突变检出率高于全国平均水平,通过干预可有效减少药物性耳聋的发生。
Objective: To analyze the frequency of mitochondrial DNA A1555G mutation in non-syndromic deafness population in Northwest China. Methods: The general situation and molecular etiology of severe sensorineural deafness in 5 provinces of northwestern China were investigated by standardized epidemiological survey design, administrative organization, specimen collection and mitochondrial 12SrRNA A1555G screening method. Results: 573 cases of non-syndromic severe to very severe sensorineural hearing loss were collected from 5 provinces and cities in northwest China. Thirty-one cases of mitochondrial 12SrRNA A1555G mutation were screened out. Conclusion: The detection rate of mitochondrial 12SrRNA A1555G mutation is higher than the national average level in five provinces of Northwest China. It can effectively reduce the occurrence of drug-induced deafness through intervention.