西北五省573例非综合征型耳聋患者线粒体DNA A1555G突变分析

Molecular etiology of 573 patients with nonsyndromic hearing loss in 5 provinces of northwest region of China

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 prevalence of an A-to-G mutation at nucleotide 1 555 of the mitochondrial genome in patients with nonsyndromic hearing impairment （NSHI） of northwest region of China. Method： A standardized programof epidemiological design, administrative support, sample collection and mutation screening for mtDNA 12SrRNA A1555G were used performed to study the general condition and the molecular etiology of patients with severe to profound hearing loss from 5 provinces of northwest region of China. Result： Five-hundred-seventy-three cases with severe profound hearing loss from 5 provinces were collected and 31 cases were found to carry mtDNA 12SrRNA A1555G mutation. Conclusion： Among the patients with severe to profound hearing loss from 5 provinces of northwest region, there was a high proportion of hereditary hearing impairment caused by mtDNA 12SrRNA A1555G mutation. Screening and testing for this mutation are effective methods to prevent ototoxicity in A1555G carriers and their maternal family members.