A novel clonality assay based on transcriptional analysis of the active X chromosome

Stem Cells. 1993 May:11 Suppl 1:62-5. doi: 10.1002/stem.5530110613.

Abstract

The clonal origin of malignancy and hematopoiesis 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 dehydrogenase (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 nonhemopoietic 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.

MeSH terms

  • Alleles
  • Clone Cells*
  • DNA, Neoplasm / metabolism
  • Female
  • Glucosephosphate Dehydrogenase / genetics
  • Hematopoiesis
  • Humans
  • Methylation
  • Neoplastic Stem Cells
  • Polycythemia Vera / enzymology
  • Polycythemia Vera / genetics*
  • Polycythemia Vera / pathology*
  • Transcription, Genetic*
  • X Chromosome*

Substances

  • DNA, Neoplasm
  • Glucosephosphate Dehydrogenase