title: Lack of G blood group antigen in DIIIb erythrocytes is associated with segmental DNA exchange between RH genes.
abstract: The Rh blood group antigens D, Cc and Ee are encoded by two highly related genes, RHD and RHCE. Almost all red cells which carry D and all cells which carry C also express the G (Rh12) antigen. In this report we have determined the molecular basis of the DIIIb category phenotype which represents a very rare condition characterized by the presence of most of the D epitopes and the total absence of the antigen G. mRNA sequencing and Southern blot analysis of two unrelated samples indicated that the DIIIb category phenotype is associated with a segmental DNA exchange between exon 2 of the RHD and RHCE genes resulting in three D-->c amino acid substitutions (Ile60Leu, Ser68Asn and Ser103Pro).
authors.affiliation: INSERM U76, Institut National de la Transfusion Sanguine, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Rouillac
authors.forename: C
authors.initials: C
authors.lastname: Le Van Kim
authors.forename: A
authors.initials: A
authors.lastname: Blancher
authors.forename: F
authors.initials: F
authors.lastname: Roubinet
authors.forename: J P
authors.initials: JP
authors.lastname: Cartron
authors.forename: Y
authors.initials: Y
authors.lastname: Colin
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D015342:DNA Probes; D004912:Erythrocytes / Q000276:immunology; D005091:Exons; D015321:Gene Rearrangement; D006801:Humans; D008969:Molecular Sequence Data; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D015342:DNA Probes; D012204:Rh-Hr Blood-Group System