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遗传性聋线粒体DNA分子流行病学 被引量：4

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摘要 耳毒性药物如氨基糖苷类药物的应用可以导致耳聋，线粒体DNA突变与药物性聋的发病有密切的关系。线粒体基因突变在不同国家、地区及不同种族之间的发生频率不同，本文主要就引起非综合征性聋和药物性聋的线粒体1555位点突变的分子流行病学研究情况做一综述。
作者 李琦 戴朴 黄德亮
机构地区 南京医科大学附属南京儿童医院耳鼻咽喉头颈外科 解放军总医院耳鼻咽喉头颈外科
出处 《国际耳鼻咽喉头颈外科杂志》 2008年第4期210-212,共3页 International Journal of Otolaryngology-Head and Neck Surgery
基金 国家自然科学基金资助项目（30572015）
关键词 DNA 线粒体(DNA Mitochondrial) 基因(Gene) 遗传(Hereditary) 聋(Deafness)
分类号 R76 [医药卫生—耳鼻咽喉科]
  • 相关文献

参考文献21

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  • 3Scrimshaw B, Faed J, Tate W, et al. Rapid identificatin of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity. J Hum Genet, 1999, 44(6) : 388-390.
  • 4戴朴,刘新,于飞,朱庆文,袁永一,杨淑芝,孙勍,袁慧军,杨伟炎,黄德亮,韩东一.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235delC和线粒体DNA 12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5. 被引量：167
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二级参考文献16

  • 1戴朴,袁慧军,曹菊阳,康东阳,张昕,李为民,王国鹏,孙悍军,杨伟炎,韩东一.线粒体基因A1555G突变检测试剂盒在药物性耳聋分子诊断中的应用[J].中国听力语言康复科学杂志,2004,33(6):21-23. 被引量：15
  • 2戴朴,于飞,康东洋,张昕,刘新,米文宗,曹菊阳,袁慧军,杨伟炎,吴柏林,韩东一.线粒体DNA1555位点和GJB2基因及SLC26A4基因的诊断方法及临床应用[J].中华耳鼻咽喉头颈外科杂志,2005,40(10):769-773. 被引量：91
  • 3Morton CC.Genetics,genomics and gene discovery in the auditory system.Hum Mol Genet,2002,11:1229-1240.
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  • 6Kelley PM,Harris DJ,Comer BC,et al.Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.Am J Hum Genet,1998,62:792-799.
  • 7Zelante L,Gasparini P,Estivill X,et al.Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.Hum Mol Genet,1997,6:1605-1609.
  • 8Sugata A,Fukushima K,Sugata K,et al.High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations.Auris Nasus Larynx,2002,29:231-239.
  • 9Park HJ,Shaukat S,Liu XZ,et al.Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:global implications for the epidemiology of deafness.J Med Genet,2003,40:242-248.
  • 10Denise Yan,Hong-Joon Park,Xiao Mei Ouyang,Arti Pandya,Katsumi Doi,Raadnabazar Erdenetungalag,Li Lin Du,Naoki Matsushiro,Walter E. Nance,Andrew J. Griffith,Xue Zhong Liu. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians[J] 2003,Human Genetics(1):44～50

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国际耳鼻咽喉头颈外科杂志
2008年 第4期

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