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Blood, 15 September 2007, Vol. 110, No. 6, pp. 2148-2157. Prepublished online as a Blood First Edition Paper on May 30, 2007; DOI 10.1182/blood-2007-01-068106. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2007-01-068106v1 110/6/2148    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Körmöczi, G. F. Articles by Gassner, C. Search for Related Content PubMed PubMed Citation Articles by Körmöczi, G. F. Articles by Gassner, C. Related Collections Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Mosaicism due to myeloid lineage–restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting Günther F. Körmöczi1, Eva-Maria Dauber1, Oskar A. Haas2, Tobias J. Legler3, Frederik B. Clausen3, Gerhard Fritsch2, Markus Raderer4, Christoph Buchta1, Andreas L. Petzer5, Diether Schönitzer6, Wolfgang R. Mayr1, and Christoph Gassner6 1 Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria; 2 Children's Cancer Research Institute, St Anna Hospital, Vienna, Austria; 3 Department of Transfusion Medicine, University of Göttingen, Göttingen, Germany; 4 Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria; 5 Stem Cell Laboratory, Department of Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; and 6 Central Institute for Blood Transfusion and Immunological Department, General Hospital and Medical University Innsbruck, Innsbruck, Austria Spontaneous Rh phenotype alteration interferes with pretransfusion and prenatal blood group examinations and may potentially indicate hematologic disease. In this study, the molecular background of this biologic phenomenon was investigated. In 9 patients (3 with hematologic disease), routine RhD typing showed a mixture of D-positive and D-negative red cells not attributable to transfusion or hematopoietic stem-cell transplantation. In all patients, congenital and acquired chimerism was excluded by microsatellite analysis. In contrast to D-positive red cells, D-negative subpopulations were also negative for C or E in patients genotyped CcDdee or ccDdEe, respectively, which suggested the presence of erythrocyte precursors with an apparent homozygous cde/cde or hemizygous cde/— genotype. Except for one patient with additional Fyb antigen anomaly, no other blood group systems were affected. RH genotyping of single erythropoietic burst-forming units, combined with microsatellite analysis of blood, different tissues, sorted blood cell subsets, and erythropoietic burst-forming units, indicated myeloid lineage–restricted loss of heterozygosity (LOH) of variable chromosome 1 stretches encompassing the RHD/RHCE gene loci. Fluorescent in situ hybridization studies indicated that LOH was caused by either somatic recombination or deletion. Therefore, most cases of spontaneous Rh phenotype splitting appear to be due to hematopoietic mosaicism based on LOH on chromosome 1. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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