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

纪育斌;王秋菊;兰兰;王卉;史伟;刘穹;满荣军;韩东一;

1:中国人民解放军总医院耳鼻咽喉-头颈外科

2:中国人民解放军耳鼻咽喉科研究所

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。
关键词
耳聋;线粒体DNA;基因突变;流行病学;药物性耳聋
基金项目(Foundation):
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
作者
纪育斌;王秋菊;兰兰;王卉;史伟;刘穹;满荣军;韩东一;
参考文献

1Fischel-Ghodsian N.Genetic factorsin aminoglycoside toxici-ty[J].Ann NY Acad Sci,1999,28:99.

2Prezant TR,Agapian JV,Bohl man MC,et al.Mitochondrial ri-bosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness[J].Nat Genet,1993,4:289.

3陈建明,陈金东,张丽珊,等.人体对链霉素致聋遗传易感性的分子遗传学研究[J].中华医学遗传学杂志,1996,13:152.

4Guo YF,Liu XW,Guan J,et al.GJB2,SLC26A4and mitochondrial DNA A1555Gmutationsin prelingual deafnessin Northern Chinese subjects[J].Acta Oto-Laryngologica,2008,128:297.

5鲍晓林,郭玉芬,王秋菊,等.29个近亲结婚致聋核心家系GJB2、SLC26A4和线粒体DNA12SrRNA基因分析[J].听力学及言语疾病杂志,2008,16:92.

6戴朴,刘新,于飞,等.18省市聋校学生非综合症性聋病分子流行病学研究(Ⅰ)-GJB2235delC和线粒体DNA12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4:1.

7郭玉芬,徐百成,韩东一,等.中国西北地区线粒体DNA12SrRNAA1555G和GJB2基因突变[J].中国耳鼻咽喉头颈外科杂志,2006,13:666.

8Liao Z,Zhao J,Zhu Y,et al.The ND4G11696A mutation may influence the phenotypic manifestation of the deafness-associ-ated12S rRNA A1555G mutation in a four-generation Chi-nese family[J].Biochem Biophys Res Commun,2007,362:670.

9Gallo-Teran J,Morales-Angulo C,del Castillo I,et al.Inci-dence of A1555G mutations in the mitochondrial DNA and35del Gin the GJB2gene(connexin-26)in families with late onset non-syndromic sensorineural hearing loss from Cant-abria[J].Acta Otorrinolaringol Esp,2002,53:563.

10Usami S,Abe S,Akita J,et al.Prevalence of mitochondrial gene mutations among hearing i mpaired patients[J].J Med Genet,2000,37:38.

11Noguchi Y,Yashi ma T,Ito T,et al.Audiovestibular findings in patients with mitochondrial A1555G mutation[J].Laryn-goscope,2004,114:344.

12Berrettini S,Forli F,Passetti S,et al.Mitochondrial non-syndromic sensorineural hearing loss:a clinical,audiological and pathological study fromItaly,and revision of the litera-ture[J].Biosci Rep,2008,28:49.

13Oshi ma T,Ueda N,Ikeda K,et al.Hearing loss with a mito-chondrial gene mutationis highly prevalent in Japan[J].La-ryngoscope,1999,109:334.

14Estivill X,Govea N,Barcelo E,et al.Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treat ment of aminoglycosides[J].AmJ Hum Genet,1998,62:27.

15Bravo O,Ballana E,Estivill X.Cochlear alterationsin deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial12S rRNA gene[J].Biochem Biophys Res Commun,2006,344:511.

16刘晓雯,郭玉芬,韩东一,等.非综合征型聋患者线粒体DNA A1555G突变频率分析[J].中华耳鼻咽喉头颈外科杂志,2007,42:739.

17Li Z,Li R,Chen J,et al.Mutational analysis of the mitochon-drial12S rRNA gene in Chinese pediatric subjects with ami-noglycoside-induced and non-syndromic hearing loss[J].Hum Genet,2005,117:9.

18Li R,Greinwald J H,Yang L,et al.Molecular analysis of the mitochondrial12S rRNAand tRNASer(UCN)genes in pae-diatric subjects with non-syndromic hearing loss[J].J Med Genet,2004,41:615.