内蒙古赤峰市特教学校耳聋患者线粒体12SrRNA基因突变分析
An Analysis of the Genetic Causes of Deaf Patients Enrolled in an Inner Mogolian Special Educational School by Mitochondria DNA 12SrRNA Gene Sequencing
袁永一;李小晶;刘新;戴朴;黄德亮;韩东一;
1:解放军总医院耳鼻咽喉头颈外科
2:解放军总医院耳鼻咽喉科研究所
3:解放军总医院聋病分子诊断中心
4:江西省人民医院耳鼻喉科
摘要关键词基金项目(Foundation):作者参考文献1袁永一,黄德亮,戴朴,等.内蒙古赤峰地区特教学校耳聋患者GJB2、GJB3、GJB6基因突变分析[J].临床耳鼻咽喉科杂志,2008,22:14.
2袁永一,戴朴,黄德亮,等.内蒙古赤峰地区特教学校耳聋患者SLC26A4基因全序列突变及其相关表型分析[J].中国耳鼻咽喉-头颈外科杂志,2007,14:251.
3Prezant TR,Agapian JV,Bohl man MC,et al.Mitochondrial ribosomal RNA mutation associated with both antibiotic-in-duced and non-syndromic deafness[J].Nat Genet,1993,4:289.
4Zhao H,Li R,Wang QJ.et al.Maternally inherited aminogly-coside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial12SrRNA gene in a large Chinese family[J].Am J Hum Genet,2004,74:139.
5Schacht J,Weiner N.Aminoglycoside-induced hearing loss:a molecular hypothesis[J].ORL,1986,48:116.
6刘新,戴朴,黄德亮,等.线粒体DNA A1555G突变大规模筛查及其预防意义探讨[J].中华医学杂志,2006,86:1318.
7Zhao L,Young WY,Li R,et al.Clinical evaluation and se-quence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the12SrRNA1095T>C mutation[J].Biochem Biophys Res Commun,2004,325:1503.
8Tessa A,Giannotti A,Tieri L,et al.Maternally inherited deafness associated with a T1095C mutation in the mtDNA[J].Eur J Hum Genet,2002,9:147.
9Thyagarajan D,Bressman S,Bruno C,et al.A novel mitochon-drial12SrRNApoint mutationin parkinsonism,deafness,and neuropathy[J].Ann Neurol,2002,48:730.
10Neefs J M,Van de Peer Y,De Rijik P,et al.Compilation of small ribosomal subunit RNA sequences[J].Nucleic Acids Res,1991,19(Suppl):1987.