实时荧光定量Taqman探针法检测线粒体DNA 1494C>T突变技术的建立及应用研究
Establishment of the Real-Time Taqman Probe Technique inDetecting the MtDNA 1494C>T Mutation
袁永一;黄德亮;韩东一;金政策;戴朴;
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总医院耳鼻喉研究所聋病分子诊断中心
2:山东三月三(澳麦尔)基因技术有限公司
摘要关键词基金项目(Foundation):作者参考文献1 Prezant TR,Agapian JV,Bohl man MC,et al.Mitochondrial ribo-somal RNA mutation associated with both antibiotic-induced andnon-syndromic deafness[J].Nat Genet,1993,4:289.
2 Zhao H,Li RH,Wang QJ,et al.Maternally inherited amin-oglycoside-induced and nonsyndromic deafness is associatedwith the novel C1494T mutation in the mitochondrial 12SrRNAgene in a large Chinese family[J].Am J Hum Genet,2004,74:139.
3 Wang Q,Li QZ,Han D,et al.Clinical and molecular analysisof a four-generation Chinese family with aminoglycoside-in-duced and nonsyndromic hearingloss associated with the mito-chondrial 12S rRNA C1494T mutation[J].Biochem BiophysRes Commun,2006,340:583.
4 Han DY,Dai P,Zhu QW,et al.The mitochondrial tRNAAlaT5628C variant may have a modifying role in the phenotypicmanifestation of the 12S rRNA C1494T mutation in a largeChinese family with hearing loss[J].Biochem Biophys ResCommun,2007,357:554.
5张立国,张琚.实时定量PCR技术的介绍[J].生物技术,2003,13:39.