内蒙古赤峰市特教学校耳聋患者线粒体tRNA Ser(UCN)基因突变分析
Analysis of Mutation of Mitochondria DNA tRNASer(UCN) Gene in Hearing Loss Patients from Special Educational School of Chifeng City of Inner Mongolia
袁永一;刘新;朱秀辉;戴朴;黄德亮;韩东一;
1:解放军总医院耳鼻咽喉头颈外科解放军总医院耳鼻咽喉科研究所解放军总医院聋病分子诊断中心
2:新疆阿勒泰解放军第十六医院耳鼻咽喉科
3:内蒙古自治区赤峰市第二医院耳鼻咽喉科
摘要关键词基金项目(Foundation):作者参考文献1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.
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5刘新,戴朴,黄德亮,等.线粒体DNA A1 555G突变大规模筛查及其预防意义探讨[J].中华医学杂志,2006,86:1 318.
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8 Verhoeven K,Ensink RJH,Tiranti V,et al.Different pene-trance of neurological symptoms associated with a mutation inthe mitochondrial tRNASer(UCN)gene[J].European Journalof Human Genetics,1999,7:45.
9 Castillo FJ,Villamar M,Moreno-Pelayo MA,et al.Maternal-ly inherity nonsyndromic hearing impairment in a Spanish fami-ly with the T7 510C mutation in the mitochondrial tRNASer(UCN)gene[J].J Med Genet,2002,39:e82.
10 Li RH,Ishikawa K,Deng JH,et al.Maternally inherited non-syndromic hearing loss is associated with the mitochondrialtRNASer(UCN)T7 511C mutation in a Japanese family[J].Biochem Biophys Res Commun,2005,328:32.
11 Guan MX,Enriquez JA,Fischel-G,et al.The deafness as-sociated mtDNA 7 445 mutation,which affects tRNA Ser(UCN)precursor processing,has long-range e.ects on N AD H dehydrogenase ND 6 subunit gene expression[J].MolCell Biol,1998,18:5 868.