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精液等离子体cfDNA碎片学景观描绘了男性不孕不育的亚型

Xiaoyu Wu¹, Fan Meng¹, Huiping Zhang¹

¹The Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Clinical epigenetics

|October 4, 2025

概括

无细胞DNA (cfDNA) 碎片组学揭示了精液等离子体中不同的特征,为男性不孕症提供了新的非侵入性诊断工具. 这项研究建立了cfDNA地图,并确定了诸如瘤瘤和非阻塞性亚精子症等疾病的疾病特征.

科学领域:

生殖医学生殖医学
基因组学就是基因组学.
液体活检液体活检

背景情况:

在产前查和瘤学中确立了无细胞DNA (cfDNA) 断片组学.
它在男性生殖健康中的应用仍然在很大程度上未被探索.
液体活检提供了非侵入性诊断潜力.

研究的目的:

建立第一个精液等离子体 (SP) cfDNA的碎片图谱.
在男性不孕症条件下描述疾病特异性的cfDNA特征.
评估cfDNA指标对瘤 (VC) 和非阻塞性精子 (NOA) 的诊断潜力.

主要方法:

综合的全基因组测序和状末端测序 (Jag-Seq).
非CG(CH) 甲基化分析.
从健康的捐赠者和患有VC和NOA的患者中对SP cfDNA进行碎片分析.
接收器操作特征 (ROC) 分析用于诊断能力.

主要成果:

与血cfDNA相比,SP cfDNA具有独特的尺寸分布 (短片段,双模峰) 和图案模式 (AAAA末端,A基偏好).
SP cfDNA显示出一个更高的状末端指数.
冠状病毒患者表现出改变的图案和更长的状末端;NOA患者显示出更高的CH甲基化.
通过ROC分析,集成的碎片学特征实现了VC的83%准确性和NOA诊断的87%准确性.

结论:

不同的cfDNA档案与男性不孕症相关.
cfDNA指标揭示了精液等离子体中疾病特异性的动态.
这些发现为在生殖医学中开发非侵入性诊断工具提供了机会.

关键词:

没有细胞的DNA.碎片组学是一种碎片组学.男人不孕不育的情况

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