中文摘要：

目的探讨在高危人群和特定人群中进行线粒体DNAA1555G突变基因筛查在预防药物性耳聋中的必要性.方法应用自主研制的线粒体DNA A1555G突变检测试剂盒对来自全国不同省市的1836例散发的非综合征性耳聋患者进行线粒体DNAA1555G突变基因筛查,筛出阳性个体,进一步了解阳性病例所有母系家庭成员状况,绘制详细家庭系谱图,对母系成员中未发病者进行防聋宣教.结果1836例中,63例存在线粒体DNAA1555G突变,突变率3.43%;在63个母系遗传家系中,8例失随访,3例不愿提供家系资料;52个有完整随访资料的家系中,存活母系家庭成员737人,耳聋发病201人（含先证者）,未发病536人.结论在高危人群和特定人群中进行线粒体DNAA1555G突变基因筛查发现氨基糖甙类抗生素致聋敏感个体,进而对其未发病母系家庭成员进行防聋宣教是预防药物性耳聋、减少药物性耳聋发生率的有效措施.

英文摘要：

Objective To explore the necessity of large-scale screening of mtDNA A1555G mutation in prevention of aminoglycoside antibiotic induced deafness （AAID） and to develop a feasible method to prevent AAID. Methods A total of 1836 patients with non-syndromic heating impairment （NSHI）, 1352 students of schools for deaf-mutes in 11 provinces and municipality in China, 413 outpatients, and 71 persons from the families with maternal relatives suffering from AAID, underwent questionnaire survey and/or PCR for A-to-G mutation at nucleotide 1555 of the mitochondrial genome. Results Sixty three patients with mtDNA A1555G mutation were found among the 1836 NSHI patients. Fifty-two maternal pedigrees were identified. 536 cases with normal heating from these pedigrees were informed to avoid using aminoglycoside antibiotics （AmAn）. Conclusion Large-scale screening of mtDNA A1555G mutation and relevant health education to avoid use of AmAn are effective to prevent ototoxicity in the A1555G carriers and their maternal relatives.