1. Molecular basis of RhD-positive/D-negative chimerism in two patients
- Author
-
Eid Ss
- Subjects
Myeloid ,Intron ,General Medicine ,Biology ,medicine.disease ,Molecular biology ,Malignant transformation ,genomic DNA ,Red blood cell ,Exon ,medicine.anatomical_structure ,Germline mutation ,medicine ,Myelofibrosis - Abstract
This study investigated two patients with Rh chimerism:patient A, a healthy individual, and patient B with myelofibrosis. Flow cytometry studies showed two red blood cell populations of Rh phenotypes R1r and rr at percentages of about 25% and 75% respectively. Normal RhD transcript sequences were found following RT-PCR. Genomic DNA [gDNA] showed normal exon, intron, GATA regions and exon/intron boundary sequences except for a single base change in intron 7 [C –>A] of exon 7 in patient A. The major change found in both patients was the absence of RHD exon 9 DNA in gDNA isolated from peripheral blood. These findings suggest a somatic mutation, probably in a stem cell common to the myeloid lineage of both patients, and indicate that patient A may undergo malignant transformation in the future
- Published
- 2004
- Full Text
- View/download PDF