质谱技术在dna 甲基化研究中的应用.pdf

生物技术通报 ·技术与方法· BIOTECHNOLOGY BULLETIN ( ) 2015, 31 11 :112-120 质谱技术在 DNA 甲基化研究中的应用 黄新凤  叶金波  刘建军 （深圳市疾病预防控制中心 现代毒理学重点实验室，深圳 518055） 摘 要 ： DNA 甲基化是最重要的表观遗传修饰之一，主要发生在哺乳动物基因组CpG 核苷酸序列中的胞嘧啶C-5 位点，并 与机体生长发育、转座子沉默、X 染色体失活及许多疾病的发生相关。但对DNA 甲基化的形成、维持和重构的分子机制的认识是 有限的，需要从基因组水平寻找最优的DNA 甲基化定性和定量分析方法，而质谱技术以高敏感性、高通量、高准确率、高分辨率、 快速且重复性好等优势在该研究领域具有较大的应用价值。介绍质谱技术在全基因组DNA 甲基化和启动子区甲基化分析中的应用。 关键词 ： 全基因组DNA 甲基化；启动子区甲基化 ；质谱 ；液相色谱 DOI ：10.13560/ki.biotech.bull.1985.2015.11.012 Application of Mass Spectrometric Technology in DNA Methylation Study Huang Xinfeng Ye Jinbo Liu Jianjun （Key Laboratory of Modern Toxicology of Shenzhen ，Shenzhen Center for Disease Control and Prevention ，Shenzhen 518055 ） Abstract: DNA methylation is one of most important epigenetic modifications, which mainly occurs in carbon-5 position of CpG nucleotide sequence in mammal genomes and relates to organism development, transposable silence, X chromosome inactivation and many diseases. The understanding for molecular mechanism of DNA methylation formation, maintenance and reconstruction remain limited. however, in order to find an optimal method for DNA methylation qualitative and quantitative analysis, mass spectrometric technology with high sensitivity, good performance, high precision, high resolution and good repeatability, has a great value in the study of DNA methylation. In the following, we will make a introduction of mass spectrometric technology application in whole genomic DNA methylation and promoter DNA methylation study. Key words: whole-genomic DNA methylation ；promoter methylation ；mass spectrum ；liquid chro