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Updated: Aug 20, 2026

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
[Clonal analysis of blood cells using X-linked HUMARA gene polymorphism]
1Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020.
Objective:
To explore the method for clonal analysis of blood cells.
Methods:
Thirty female AML patients and 20 normal female subjects were analysed by the analysis of X-linked HUMARA gene polymorphism and methylation pattern.
Results:
The heterozygote rate of HUMARA gene in Chinese women was 88% and the gene had a stable methylation pattern. Out of 20 control females, 17 were heterozygotes and among them 15 were polyclonal, 2 (11.8%) showed skewed X-inactivation. All heterozygote AML were clonal hematopoiesis.
Conclusion:
HUMARA gene polymorphism is a good marker for clonality analysis of blood cells.
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