从精液中基于DNA甲基化的年龄估计:全基因组标记物识别和模型开发
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Updated: Aug 11, 2026
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Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
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Ya Li1, Xiaozhao Liu2, Maomin Chen1
1Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, PR China.
Forensic science international. Genetics
|January 3, 2025
概括
这项研究使用先进的测序确定了新的精液特异性与年龄相关的CpG位点,改进了基于DNA甲基化的法医年龄估计. 开发了一个强大的随机森林模型,用于精液样本的准确年龄预测.
科学领域:
- 法医科学 法医科学 法医科学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 基因组学就是基因组学.
背景情况:
- 与年龄相关的CpG (AR-CpG) 位点的DNA甲基化对法医年龄估计有希望.
- 身体模型在精液中表现不佳,这是由于精子生成过程中独特的甲基化动态.
- 目前的研究受限于甲基化微阵列的覆盖范围较低.
研究的目的:
- 使用双酶减少表示双硫酸盐测序 (dRRBS) 识别精液特定的新型AR-CpG位点.
- 验证这些标记物和以前报告的网站使用二硫酸片序列测序 (BSAS).
- 为精液样本开发可靠的年龄估计模型.
主要方法:
- 在使用dRRBS的21名健康中国男性的精液样本上进行了一项甲基组范围的关联研究.
- 分析了每个样本的400多万个CpG网站,重点关注721,840个共享网站.
- 在129个和247个不同年龄组的精液样本中使用多重PCR基BSAS验证了与年龄相关的CpG.
主要成果:
- 确定了139个AR-CpG位点,其中超过95%不受常规甲基化微阵列的覆盖.
- 验证了71个AR-CpG位点与高年龄相关性 (若若若若若>0.50),包括chr2:129071885 (cg19998819) 作为最强的标志物 (若若=0.81).
- 开发了优化随机森林 (RF) 年龄估计模型,使用9CpG RF模型实现根平均平方误差为4.73年,平均绝对误差为3.30年.
结论:
- 在精液中大规模发现AR-CpG时,dRRBS是有效的.
- 使用精液特定的AR-CpG开发了一个强大的年龄估计模型.
- 这项研究为法医应用提供了精液特异性AR-CpG的全面数据库.
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