Clonality of cell populations in refractory anaemia using combined approach of gene loss and X-linked restriction fragment length polymorphism-methylation analyses.

Journal article

We have used X-linked restriction fragment length polymorphism (RFLP)-methylation and gene deletion analyses to investigate the nature of the progenitor cell of origin in the myelodysplastic syndromes (MDS). Gene deletion studies were performed on the granulocyte and T-lymphocyte fractions of six women with refractory anaemia (RA) and either a partial deletion of the long arm of chromosome 5 (5q-) or monosomy 7. All six showed gene loss in the granulocyte but not the T-lymphocyte fractions, indicating monoclonality of the granulocytes but not the T-lymphocytes. In order to further investigate this finding, we subsequently performed X-RFLP-methylation studies using the probe M27 beta, and also a probe for the phosphoglycerate kinase (PGK) gene. These studies have confirmed the monoclonality of the granulocytes and the polyclonality of the T-lymphocytes in these cases. Our findings suggest that in this group of patients with MDS the T-lymphocytes were not involved in the disorder, and furthermore, in the one case where B-lymphocytes were also available, that the progenitor cell of origin was restricted to the myeloid lineage.

Authors: Abrahamson, G; Boultwood, J; Madden, J; Kelly, S; Oscier, D

• Publication status: Published
• Journal: British journal of haematology
• Volume: 79
• Issue: 4
• Pages: 550-555
• Publication date: 1991-12-01
• DOI: 10.1111/j.1365-2141.1991.tb08080.x
• EISSN: 1365-2141
• ISSN: 0007-1048
• Language: English
• Keywords: Granulocytes; Genetic Linkage; Female; Monosomy; DNA Probes; Chromosome Deletion; Polymorphism, Restriction Fragment Length; Anemia, Refractory; Chromosomes, Human, Pair 5; Chromosomes, Human, Pair 7; T-Lymphocytes; Humans; Phosphoglycerate Kinase; X Chromosome; Clone Cells