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Josef T. Prchal, Y. L. Guan, A novel clonality assay based on transcriptional analysis of the active X chromosome, Stem Cells, Volume 11, Issue S1, 1993, Pages 62–65, https://doi.org/10.1002/stem.5530110613
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Abstract
Abstract The clonal origin of malignancy and he-matopoiesis is a principal tenet of modern biology and medicine. This paper describes a highly specific and sensitive assay for the detection of clonality in cells and cell lineages suitable for studies in a large proportion of females. The specific ligase chain and/ or ligase detection reactions (LCR/LDR) are utilized at a polymorphic glucose-6-phosphate dehydrogen-ase (G-6-PD) locus for discrimination of the mRNA transcripts of the active X chromosome. This combination approach circumvents problems encountered with other currently used assays of clonality based either on peptide G-6-PD polymorphism or on DNA methylation differences between the active and inactive X chromosomes. The veracity of this assay was verified by analysis of 19 random healthy females as well as by the study of hemopoietic and nonhemopo-ietic tissues from a patient with clonal hemopoiesis/ polycythemia vera. Furthermore, we demonstrate that the G-6-PD locus used in our clonal assay does not display marked differences in methylation between the active and the inactive X chromosomes.