【摘要】 目的 对我们前期研究构建的用于身高推断的DNA甲基化测序体系进行灵敏度、重复性、抗降解能力、体内时间稳定性以及组织特异性的评估，为法医鉴识提供参考。方法 灵敏度：设置不同起始模板量（50 ng、40 ng、30 ng、20 ng）进行测序。重复性：使用同一样本的DNA进行三次测序。抗降解能力：使用全血制成血斑，分别在0、3、6、9个月时提取DNA进行测序。体内时间稳定性：在0、3、6、9个月时分别采血进行测序。组织特异性：使用已发表的数据和研究结果分析体系中DNA甲基化位点的组织特异性。结果 灵敏度检测结果显示，20ng的起始模板量检测出了所有的位点，且获得了准确的预测结果。同一样本的三次重复预测结果稳定，差异主要来源于模型的随机性，表明检测重复性较好。室温放置9个月的血斑获得了完整的甲基化谱，预测结果显示出小范围内的波动。三个样本在九个月内预测身高波动范围在1.5 cm以下。组织特异性分析显示血液仅与唾液具有相对较高的相似性，可能不适用于其他组织中推断身高。结论 我们前期研究开发的DNA甲基化检测体系具有良好的灵敏度、重复性、抗降解能力和体内时间稳定性，以及较强的组织特异性，适用于对血液样本进行身高推断，支持了在法医学领域对全血样本进行靶向DNA甲基化分析推断身高的可行性。更多还原

【Abstract】 Objective To evaluate the sensitivity, repeatability, anti-degradation ability, in vivo temporal stability, and tissue specificity of the DNA methylation sequencing panel constructed in our previous study for height inference, so as to provide a reference for forensic application. Methods Sensitivity: different initial template quantities(50 ng, 40 ng, 30 ng, 20 ng) were set for sequencing. Repeatability: DNA from the same sample was sequenced three times. Antidegradation ability: whole blood was used to make blood stains, and DNA was extracted and sequenced at 0, 3, 6 and 9 months, respectively. In vivo temporal stability: the blood was collected at 0, 3, 6, and 9 months for sequencing. Tissue specificities: published data and findings were used to analyze the tissue specificities of CpGs in the panel. Results The sensitivity test showed that the initial template quantities of 20 ng detected all the CpG sites and still obtained accurate prediction results. The results of the three repeated predictions of the same sample are stable, and the differences are mainly due to the randomness of the DNN model, indicating good detection repeatability. A complete methylation profile was obtained for the blood stains left at room temperature for 9 months, and the predicted results showed a small range of fluctuations. The three samples were predicted to fluctuate within a range of 1.5 cm or less over nine months. Tissuespecific analyses showed a high correlation between blood and saliva, but can not apply to other tissues. Conclusion The DNA methylation detection system we developed in our previous study has good sensitivity, repeatability, anti degradation ability, in vivo time stability, as well as strong tissue specificity, making it suitable for height inference of blood samples. This supports the feasibility of using targeted DNA methylation analysis on whole blood samples to infer height in the field of forensic science.更多还原