Molecular basis of RhD-positive/D-negative chimerism in two patients
EMHJ-Eastern Mediterranean Health Journal. 2004; 10 (1-2): 228-241
in English
| IMEMR
| ID: emr-158280
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Base Sequence
/
Genome, Human
/
Exons
/
Gene Expression Profiling
/
Insulator Elements
/
Flow Cytometry
/
Genotype
Limits:
Adult
/
Aged
/
Female
/
Humans
Language:
English
Journal:
East Mediterr Health J.
Year:
2004
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