Abstract
Abstract Background and Objectives: Previously, the Evans antigen (RH37) of the Rh blood group system was shown to be specified by a novel CE‐D‐CE hybrid gene. We studied further the heterogeneity of Evans and report here its new molecular type resulting from a novel intraexon fusion event on the background of D·· and D— complexes. Materials and Methods: A white family with 2 Evans+ and 2 Evans‐ members was analyzed by serological methods and molecular techniques. Results: The Evans+ proband (JD) typed D+C−c−E−e− and showed a partial loss of RHCE but an increased dose of RHD on DNA blots. On sequencing of Rh cDNAs, a normal D and 3 hybrid transcripts were detected. The D‐CE hybrid is characterized by a single breakpoint located in exon 6. The CE‐D hybrid derived its exon 1 (or 1 and 2) from RHCE and exons 2–10 (or 3–10) from RHD. The CE‐D‐CE hybrid had its internal exons 2–7 (or 3–7) from RHD. Family studies showed that the D‐CE and CE‐D hybrids were linked and cotransmitted from JD to his son, whereas RHD and CE‐D‐CE hyrbid were transmitted from JD to his daughter. Conclusion: In this family, Evans is specified by the novel D‐CE intraexon fusion gene which occurs in cis to CE‐D and trans to CE‐D‐CE interexon fusion genes. The observed large duplication of RHD reflects a convergent mosaicism underlying the enhancement of D and ablation of CcEe antigens.
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