Molecular basis of RhD-positive/D-negative chimerism in two patients
EMHJ-Eastern Mediterranean Health Journal. 2004; 10 (1-2): 228-241
em Inglês
| 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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Sequência de Bases
/
Genoma Humano
/
Éxons
/
Perfilação da Expressão Gênica
/
Elementos Isolantes
/
Citometria de Fluxo
/
Genótipo
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
East Mediterr Health J.
Ano de publicação:
2004
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