国内线粒体DNA12SrRNA A1555G突变的流行病学文献分析  

A Literature Review of Epidemiological Studies in Chinese Population with Mitochondrial DNA 12SrRNA A1555G Mutation

作　　者：纪育斌[1] 王秋菊[1] 兰兰[1] 王卉[1] 史伟[1] 刘穹[1] 满荣军[1] 韩东一[1] 

机构地区：[1]中国人民解放军总医院耳鼻咽喉-头颈外科,中国人民解放军耳鼻咽喉科研究所,北京100853

出　　处：《听力学及言语疾病杂志》2010年第1期6-10,共5页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);国家自然基金重点项目(30830104);国家自然基金面上项目(30572016;30672310&30771203);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);北京市科技计划重大项目(D0906005040291);国家973项目(2007CB507400);北京市重大专项课题项目(7070002);国家"十一五"科技支撑计划(2006BAI02B06&2007BAI18B12)资助

摘　　要：目的回顾总结国内线粒体DNA12SrRNA A1555G突变流行病学调研的文献,了解其在国人耳聋患者中的分布特征及目前研究中存在的问题并提出解决方案。方法通过Cbmdisc和PUBMED数据库检索1996～2008年国内报道的各地区对A1555G突变流行病学调研文献,应用CHISS统计软件对每篇文献中样本量、样本特征、地域分布、突变频率及A1555G突变与氨基糖苷类药物应用的相互关系等多个因素进行分析。结果检索到相关文献25篇,纳入研究21篇,研究区域涉及国内14个省、直辖市和自治区,调查人群均为非综合征型感音神经性聋患者;样本总量3473人,A1555G突变者230人(6.62%,230/3473);各地区样本量78～802人,突变频率0.67%～14.6%,各地区突变频率存在较大差异(P=0.0000)。有氨基糖苷类抗生素用药史的患者739人中A1555G突变者100人,突变频率为2.70%～33.33%,平均13.53%,高于非综合征型耳聋人群(P=0.0000)。结论国内线粒体DNA12SrRNAA1555G突变频率的流行病学调查存在省市覆盖不全、种族均衡性偏差、地区数据差异较大、样本选择量不足、随机化不充分、缺少种族和年龄划分等诸多问题,需进一步进行系统的线粒体A1555G突变流行趋势研究。Objective To analyze epidemiological characteristics of mitochondrial DNA12SrRNA A1555G mutation in Chinese populations with non-syndromic sensorineural hearing loss by the literature review and find the main actual deficiencies in course of epidemiological study.Methods From Cbmdisc and PUBMED database pulled out were all published epidemiological literatures about Chinese mtDNA12SrRNA A1555G mutation from 1996 to 2008.Reviewed were the primary data of these studies including the number of samples,demographic characteristics of the samples,mutation frequencies,interrelations between the mutation and aminoglycoside exposure and so on.Results 21 papers out of 25 were induded in this study.The patients had non-syndromic sensorineural hearing loss from 14 regions of China. A total of 3 473 were found including 230 patients with A1555G mutation and the average mutation frequency was 6.62%.The samples in each regions ranged from 72 to 802 and the reported mutation frequencies were from 0.67%~14.6%. The statistical discrepancy was significant among mutation frequencies in different regions by χ2 test（P=0.0000）. The number of patients with aminoglycoside antibiotics exposure was 739 including 100 with A1555G mutation in all literatures. The proportions in different regions were from 2.70% to 33.33% with the average of 13.53%.The average proportion was significantly higher than the mutation frequency in patients with non-syndromic sensorineural hearing loss. Conclusion Some deficiencies in epidemiological research Omutation in China included age,ethnic,and geographic bias,insufficiency of samples,inadequate randomization and so on. Researchers should focus with more efforts on the epidemiological characteristics of A1555G mutation in Chinese people.

关 键 词：耳聋 线粒体DNA 基因突变 流行病学 药物性耳聋 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]