title: Characterization of a novel O(1) variant allele at the ABO blood group locus.
abstract: We describe the identification and molecular characterization of a novel variant O(1) allele of the ABO blood group locus. The allele was found in a young child and by analyzing the maternal DNA we were able to show that a meiotic recombination event between the maternal O(1v-3) and B(1-1) alleles recreated a O(1)/B hybrid allele. Further characterization of intron 6 sequences delineated the putative recombination breakpoint between nucleotide position 42 and 163 of the intron. We propose that the novel O(1variant) allele should be named O(1v-7) and is a combination of exon 6 from a O(1v-3) allele and exon 7 from a B(1-1) allele.
authors.affiliation: Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg, Faculty of Clinical Medicine Mannheim, University of Heidelberg, Friedrich-Ebert-Strasse 107, D-68167 Mannheim, Germany. p.bugert@blutspende.de
authors.forename: P
authors.initials: P
authors.lastname: Bugert
authors.forename: L
authors.initials: L
authors.lastname: Rütten
authors.forename: S
authors.initials: S
authors.lastname: Goerg
authors.forename: H
authors.initials: H
authors.lastname: Klüter
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D002648:Child; D003434:Crossing Over, Genetic; D006801:Humans; D008540:Meiosis; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D000017:ABO Blood-Group System