Differential detection of megakaryocytic and erythroid DNA in plasma in hematological disorders.
NPJ Genom Med
; 9(1): 39, 2024 Aug 05.
Article
in En
| MEDLINE
| ID: mdl-39103426
ABSTRACT
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 ß-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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
NPJ Genom Med
Year:
2024
Document type:
Article
Affiliation country:
China
Publication country:
ENGLAND
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ESCOCIA
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GB
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GREAT BRITAIN
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INGLATERRA
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REINO UNIDO
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SCOTLAND
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UK
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UNITED KINGDOM