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A new hybrid RHCE gene (CeNR) is responsible for expression of a novel antigen
Author(s) -
Westhoff Connie M.,
Storry Jill R.,
Walker Phyllis,
LomasFrancis Christine,
Reid Marion E.
Publication year - 2004
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2004.04003.x
Subject(s) - exon , biology , gene , genetics , microbiology and biotechnology , antigen , rh blood group system , locus (genetics) , phenotype , haplotype , allele , antibody
BACKGROUND: The red blood cells (RBCs) of a patient, known to have the probable DC W (e)/D‐‐ phenotype, typed as D W – and Rh32– but were unexpectedly agglutinated by an anti‐D W /Rh32 serum. The reactivity suggested that the RBCs carried a novel antigen and that the molecular background of this DC W (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 C W 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).