Fig. 1.
Rare RHCE alleles in black individuals producing loss of immunogenic epitopes and/or weak e antigens.
Open boxes illustrate the RHCE exons. Black lines or solid boxes within the RHCE gene represent replacement ofRHCE nucleotides by the counterpart of the RHDgene. Bold lines stand for mutations at nonpolymorphic sites. Variants represented were described in this study or by other authors (references indicated). In variants associated with the loss of immunogenic high-incidence antigens, there are schematically 3 categories: (1) the RH:−18 phenotype, with 3 possible RHCEalleles, (2) the RH:−34 phenotype, characterized by a haplotype with aD-CE(3-8)-D hybrid gene plus 4 extra mutations, encoding some RhC epitopes, in linkage with aces allele represented in this figure carrying an extra mutation at 1006 ((C)ces), and (3) the RH:32,-46 phenotype, with 2 CE-D-CE hybrid alleles. Another group of variants corresponds to altered ce alleles with the loss of Rhe immunogenic epitopes, like the ceMOallele and a ceS allele with an extra mutation in 340 [ces(340)]. The last group of variants includes other ce alleles associated with decreased Rhe [ce(C48), ces, ces(697), ces(748), ce-D(5)-ce]. No immunization has been shown, so far, against lacking Rhe epitopes. The frequent cytosine at position 48 in blacks may be carried or not in the differentRHCE alleles. The RHD gene (normal or altered), which cosegregates with these alleles, is indicated in Table 4 when known either because this report or other authors could demonstrate the associated RHD gene.