Lam W K Jacky, Gai Wanxia, Bai Jinyue, Tam Tommy H C, Cheung Wai Fung, Ji Lu, Tse Irene O L, Tsang Amy F C, Li Maggie Z J, Jiang Peiyong, Law Man Fai, Wong Raymond S M, Chan K C Allen, Lo Y M Dennis
Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China.
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
NPJ Genom Med. 2024 Aug 5;9(1):39. doi: 10.1038/s41525-024-00423-x.
The tissues of origin of plasma DNA can be revealed by methylation patterns. However, the relative DNA contributions from megakaryocytes and erythroblasts into plasma appeared inconsistent among studies. To shed light into this phenomenon, we developed droplet digital PCR (ddPCR) assays for the differential detection of contributions from these cell types in plasma based on megakaryocyte-specific and erythroblast-specific methylation markers. Megakaryocytic DNA and erythroid DNA contributed a median of 44.2% and 6.2% in healthy individuals, respectively. Patients with idiopathic thrombocytopenic purpura had a significantly higher proportion of megakaryocytic DNA in plasma compared to healthy controls (median: 59.9% versus 44.2%; P = 0.03). Similarly, patients with β-thalassemia were shown to have higher proportions of plasma erythroid DNA compared to healthy controls (median: 50.9% versus 6.2%) (P < 0.0001). Hence, the concurrent analysis of megakaryocytic and erythroid lineage-specific markers could facilitate the dissection of their relative contributions and provide information on patients with hematological disorders.
血浆DNA的组织来源可通过甲基化模式来揭示。然而，在不同研究中，巨核细胞和红细胞对血浆中DNA的相对贡献似乎并不一致。为了阐明这一现象，我们开发了液滴数字PCR（ddPCR）检测方法，用于基于巨核细胞特异性和红细胞特异性甲基化标记物，差异检测血浆中这些细胞类型的贡献。在健康个体中，巨核细胞DNA和红细胞DNA的贡献中位数分别为44.2%和6.2%。与健康对照相比，特发性血小板减少性紫癜患者血浆中巨核细胞DNA的比例显著更高（中位数：59.9%对44.2%；P = 0.03）。同样，与健康对照相比，β地中海贫血患者血浆中红细胞DNA的比例更高（中位数：50.9%对6.2%）（P < 0.0001）。因此，同时分析巨核细胞和红细胞谱系特异性标记物有助于剖析它们的相对贡献，并为血液系统疾病患者提供信息。
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