| Autor: |
CHÉrif-Zahar, Baya, Bony, Viviane, Steffensen, Rudi, Gane, Pierre, Raynal, Virginie, Goosens, Dominique, Skaaning Laursen, Jens, Varming, Kim, Jersild, Casper, Cartron, Jean-Pierre, Cartron, Dr Jean-Pierre |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Sep98, Vol. 102 Issue 5, p1263-1270, 8p, 3 Diagrams, 2 Charts |
| Abstrakt: |
We report a female patient whose Rh phenotype shifted from RhD-positive to RhD-negative over a 3-year period (1991–94), during which time she was treated with mastectomy (1992) and local irradiation for a low-grade recurrent breast cancer. She was diagnosed with chronic myeloid leukaemia in 1994, and has since then received chemotherapy. The patient was repeatedly typed as O, RhD-positive between 1965 and 1991 and was repeatedly found RhD-negative after 1994. Bcr-Abl transcripts typical of Ph1 chromosome were detected. Molecular analysis indicated that the patient was heterozygous at the RH locus, carrying one haplotype in which the RHD gene exhibited a single nucleotide deletion (G600) resulting in a frameshift and premature stop codon, and a normal RHCE gene (allele Ce). The second haplotype contained only the RHCE gene (allele ce) and was normal. Further analysis carried out on total leucocytes, purified neutrophils, EBV-lymphoblastoid cell line and cultured erythroblasts indicated that the G600 deletion was restricted to the myeloid lineage. No modification of other blood group antigens could be detected. These findings suggest a somatic mutation which most probably occurred in a stem cell common to the myeloid lineage. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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