期刊文献+

双重突变特异性引物PCR检测Leber遗传性视神经线粒体突变

下载PDF
导出
摘要 目的建立双重MSP-PCR检测Leber2遗传性视神经病变线粒体突变的方法。方法收集视神经病变者109例,应用双重MSP-PCR分析其线粒体DNA11778和3460的突变情况,并用或序列测定比较分析。结果用双重MSP-PCR分别检测出线粒体DNA11778和3460突变36例和1例,其正确率与SSCP及序列分析一致。结论双重MSP-PCR是检测线粒体DNA11778和3460突变的特异、简便的方法,适用于常规检测和研究。
出处 《现代检验医学杂志》 CAS 2005年第1期50-51,共2页 Journal of Modern Laboratory Medicine
基金 国家高技术研究发展计划(863计划)课题 编号:04AA104092。
  • 相关文献

参考文献5

  • 1郭莉,陈又昭,贾小云,张清炯,郭向明.突变特异性引物PCR检测线粒体DNA11778突变[J].中华眼底病杂志,1998,14(1):56-56. 被引量:3
  • 2Mackey DA,Oostra RJ,Rosenberg T,et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy[J]. Am J Hum Genet,1996;59:481-485. 被引量:1
  • 3Jia XY,Zhang QJ. Guo L. et al. Spectrum of pathological mtDNA mutations in Chinese patients with optic neuropathy [J]. Invest Ophthalmol Vis Sci,2001 ;42(4) :S325. 被引量:1
  • 4Newton CR,Graham A, Heptins tall LE,et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) [J3- Nucl Res Commum,1989;17:2503-2516. 被引量:1
  • 5Norby S. Mutation-specific PCR:A rapid ang inexpensive diagnostic method, as exemplified by mitochondrial DNA analyses in Leber hereditary optic neuropathy [J]. DNA and Cell Biologys Res Commum,1991;175:631-636. 被引量:1

二级参考文献7

  • 1张丽珊,黄鹰.Leber病的分子遗传学研究[J].中华眼科杂志,1993,29(2):103-104. 被引量:4
  • 2Hott Y,Fujiki K,Hayakawa M,et al.Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA,Jpn Jph J Ophthalmol,1995.39:96-108. 被引量:1
  • 3Wallace DC,Singh G,Lott MT,et al.Mitochondrial DNA mutation associated with Leher's hereditary optic neuropathy.Science,1988,242:1427-1430. 被引量:1
  • 4Anderson S,Bankier AT,Barrell BG,et al.Sequence and organization of the human mitochondrial genome Nature,1981,290:457-465. 被引量:1
  • 5Norby S,Mutation-specific PCR:A rapid and inexpensive diagnostic method,as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy.DNA and Cell Biology,1993,12:549-552. 被引量:1
  • 6Norby S,Lestienne P,Nelson.I,et al.Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming.Biochem Biophys Res Commun,1991,175:631-636. 被引量:1
  • 7Newton CR,Graham A,Heptins tall LE,et al.Analysis of any point mutation in DNA. The amplification refractory mutation system(ARMS).Nucl Res Commun,1989,17:2503-2516. 被引量:1

共引文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部