A new hybrid RHCE gene (CeNR) is responsible for expression of a novel antigen

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Abstract
BACKGROUND: The red blood cells (RBCs) of a patient, known to have the probable DCW(e)/D-- phenotype, typed as DW– and Rh32– but were unexpectedly agglutinated by an anti-DW/Rh32 serum. The reactivity suggested that the RBCs carried a novel antigen and that the molecular background of this DCW(e)/D-- phenotype might be different from those reported. The purpose of this study was to determine the molecular basis of the Rh phenotype. STUDY DESIGN AND METHODS: Samples were obtained for family studies. Standard hemagglutination methods were used. RH mRNA transcripts were isolated by reverse transcription-polymerase chain reaction and sequenced. RESULTS: Sequence analysis revealed that the probond had three different RH transcripts: a normal RHD and two different hybrid transcripts from the RHCE locus, a RHCE-D hybrid with exon 1 from RHCE associated with the D-- haplotype, and a new RHCE-D hybrid. In this new hybrid, exons 1 to 5 are RHCe-specific and exons 6 to 10 correspond to RHD. The CW antigen is also encoded by this hybrid gene. Family studies confirmed that the new RHCE-D hybrid is linked in cis to conventional RHD. CONCLUSION: A new RHCE-D structure is associated with altered expression of C and e antigens in this family and the generation of a novel low-prevalence antigen (CENR).