Objectives: To evaluate the forensic application value of an age estimation model based on DNA methylation in eastern Chinese Han population, and to provide a theoretical basis for exploring age estimation models suitable for different detection platforms.
Methods: According to the 6 age-related methylation sites in the published blood DNA methylation age estimation models of Chinese Han population, the DNA methylation level of 48 samples was detected by pyrosequencing and next-generation sequencing (NGS). After submitting DNA methylation levels to the age estimation model, the DNA methylation ages were predicted and compared with their real ages.
Results: The 6 DNA methylation sites in both detection techniques were age-related, with an R2 of 0.85 and a median absolute deviation (MAD) of 4.81 years when using pyrosequencing；with an R2 of 0.84 and MAD of 4.41 years when using NGS.
Conclusions: The blood DNA methylation age estimation model can be used under pyrosequencing and multi-purpose regional methylation enrichment sequencing technology based on NGS and it can accurately estimate the age.
目的: 评估基于DNA甲基化年龄推断模型在华东汉族人群中的法医学应用价值，为探索适用于不同检测平台的年龄推断模型提供理论依据。方法: 根据已发表的中国汉族人群血液DNA甲基化年龄推断模型中6个年龄相关甲基化位点，使用焦磷酸测序和下一代测序（next-generation sequencing，NGS）技术分别检测48例样本的DNA甲基化水平，分别将其代入年龄推断模型后计算预测年龄，并与真实年龄进行比较。结果: 两种检测技术下6个甲基化位点都与年龄相关，使用焦磷酸技术的R2为0.85，平均绝对误差（median absolute deviation，MAD）为4.81岁，使用NGS技术的R2为0.84，MAD=4.41岁。结论: 该血液DNA甲基化年龄推断模型可以在焦磷酸测序与基于NGS的多重目的区域甲基化富集测序技术下使用，并能够较为准确地推断年龄。.
Keywords: DNA methylation; age estimation; epigenetics; forensic genetic; next-generation sequencing; pyrosequencing.