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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 (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 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 Kormoczi, G. F. Articles by Gassner, C. Search for Related Content PubMed PubMed Citation Articles by Kormoczi, G. F. Articles by Gassner, C. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 12, 2007 Accepted May 16, 2007 Mosaicism due to myeloid lineage-restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting Gunther F. Kormoczi*, Eva-Maria Dauber, Oskar A. Haas, Tobias J. Legler, Frederik B. Clausen, Gerhard Fritsch, Markus Raderer, Christoph Buchta, Andreas L. Petzer, Diether Schonitzer, Wolfgang R. Mayr, and Christoph Gassner Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria Children's Cancer Research Institute, St. Anna Hospital, Vienna, Austria Department of Transfusion Medicine, University of Gottingen, Gottingen, Germany Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria Stem Cell Laboratory, Department of Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria Central Institute for Blood Transfusion & Immunological Dept, General Hospital and Medical University Innsbruck, Innsbruck, Austria * Corresponding author; email: guenther.koermoeczi{at}meduniwien.ac.at. Spontaneous Rh phenotype alteration interferes with pretransfusion and prenatal blood group examinations and may potentially indicate hematological disease. In this study, the molecular background of this biological phenomenon was investigated. In nine patients (three with hematological 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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