DNA甲基化检测方法及结果准确性分析

    Detection Methods and Accuracy Analysis of DNA Methylation

    • 摘要: DNA甲基化是一种真核生物中常见的表观遗传学修饰方式,在多种生理及疾病演变过程中发挥了重要作用。甲基化DNA已成为重要的生物标记物,精确定量DNA甲基化水平对临床管理和基础科研都具有重要的价值。但目前基于不同平台和不同方法的检测结果往往有较显著的差异,这种不确定性给它的应用带来了很大的隐患。本文对一些典型的特定位点的甲基化检测方法进行了总结,尤其强调了高灵敏度、高准确性的数字PCR方法在甲基化检测方面的应用,并分析了影响甲基化检测结果准确性的关键因素,最后对建立甲基化定量测量的标准评估体系进行了展望。

       

      Abstract: DNA methylation is a common epigenetic modification in eukaryotes and plays a crucial role in the evolution of many physiological and disease processes. Methylated DNA has become a type of key biomarker, and accurate quantification of the methylation levels is of great value for clinical management and basic scientific research. However, current results based on different platforms and different methods often have more significant differences in results, and this uncertainty poses a great potential for its application. In this paper, we summarize some typical detection methods for the locus-specific methylation analysis, especially highlighting the application of digital PCR in DNA methylation detection with high sensitivity and accuracy, and analyze the key factors affecting the result accuracy, and finally prospect the establishment of a standard evaluation system for quantifying methylated DNA.

       

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