title: Molecular analysis of blood group Rh transcripts from a rGr variant.
abstract: The Rh blood group antigens D, Cc and Ee are encoded by two related genes, RHD and RHCE. The RhG antigen (Rh12) is associated with the expression of RhC and/or RhD, except in rare variant red cells. Here we have determined the molecular basis of G expression in the absence of D and C in the rGr phenotype. Nucleotide sequence analysis revealed that the rG allele resulted either from a segmental DNA exchange between part of exon 2 of the RHce gene and the equivalent region of the RHCE or RHD genes or from a crossing over between positions nt150 and nt178 of the RHce and RHCe genes. The predicted protein encoded by the hybrid rG gene (c-C-e or c-D-e) carries Ile60, Ser68 and Ser103 (as C and D polypeptides); any of these positions appear to be critical in the formation of the G antigen. In addition, Cys16 was found to be important in the phenotypic expression of C.
authors.affiliation: INSERM U76, Institut National de la Transfusion Sanguine, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Mouro
authors.forename: Y
authors.initials: Y
authors.lastname: Colin
authors.forename: P
authors.initials: P
authors.lastname: Gane
authors.forename: E
authors.initials: E
authors.lastname: Collec
authors.forename: T
authors.initials: T
authors.lastname: Zelinski
authors.forename: J P
authors.initials: JP
authors.lastname: Cartron
authors.forename: C
authors.initials: C
authors.lastname: Le Van Kim
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D015321:Gene Rearrangement; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System