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DNAA1555G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。
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.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2006年第19期1318-1322,共5页
National Medical Journal of China
基金
国家自然科学基金资助项目(30572015)
