King's College London, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK.
Methods. 2010 Nov;52(3):255-8. doi: 10.1016/j.ymeth.2010.06.017. Epub 2010 Jul 3.
DNA methylation plays a vital role in normal cellular function, with aberrant methylation signatures being implicated in a growing number of human pathologies and complex human traits. Methods based on the modification of genomic DNA with sodium bisulfite are considered the 'gold-standard' for DNA methylation profiling on genomic DNA; however they require large amounts of DNA and may be prohibitively expensive when used on the large sample sizes necessary to detect small effects. DNA pooling approaches are already widely used in large-scale studies of DNA sequence and gene expression. In this paper, we describe the application of this economical DNA pooling technique to the study of DNA methylation profiles. This method generates accurate quantitative assessments of group DNA methylation averages, reducing the time, cost and amount of DNA starting material required for large-scale epigenetic investigation of disease phenotypes.
DNA 甲基化在正常细胞功能中起着至关重要的作用,异常的甲基化特征与越来越多的人类病理和复杂的人类特征有关。基于亚硫酸氢盐修饰基因组 DNA 的方法被认为是基因组 DNA 甲基化分析的“金标准”;然而,当用于检测小效应所需的大量样本时,它们需要大量的 DNA,并且可能非常昂贵。DNA 池化方法已经广泛应用于大规模的 DNA 序列和基因表达研究。在本文中,我们描述了这种经济的 DNA 池化技术在 DNA 甲基化谱研究中的应用。这种方法可以准确地定量评估组 DNA 甲基化平均值,减少了大规模疾病表型的表观遗传学研究所需的时间、成本和起始 DNA 量。