The genomic organization of the partial D category DVa: the presence of a new partial D associated with the DVa phenotype.

Within the Rh blood group, the partial D phenotype is a well known RhD variant, that induces Rh-incompatible blood transfusion and hemolytic diseases in the newborn. The partial D category DVa phenotype (DVa Kou.) results from a hybrid of RhD-CE-D transcript. We demonstrated a genomic organization of the hybrid RHD-CE-D gene leading to the DVa phenotype, and showed that the DVa gene were generated from gene conversion between the RHD and the RHCE genes in relatively small regions. This study also revealed that the presence of a new partial D associated with the DVa phenotype, which we termed the DVa-like phenotype. In this phenotype, five RHD-specific nucleotides were replaced with the corresponding RHCE-derived nucleotides on the exon 5 of the RHD gene. In addition, two variants of the mutated RHD genes at nucleotide 697 were revealed in the RhD variant samples. These results will provide useful information for future research into the diversification of the Rh polypeptides.