The Dc(G48)es haplotype is frequent among the Dce haplotypes within a white population

COTORRUELO C; MUNINI G; GARCÍA BORRÁS S; RACCA L; BIONDI C.; RACCA A

TRANSFUSION

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Baltimore; Año: 2007 vol. 47 p. 486 - 491

0041-1132

BACKGROUND: The absence of hybrid Rhesus boxes denotes an RHD homozygous status and helps to detect the presence of Dce haplotypes instead of dce. RHCE exon 1 C48, characteristic of RHC alleles, and RHCE exon 5 G733, responsible for VS antigenicity, have been noted in many RHce alleles but it was not clearly established whether they occurred in the same allele and/or cosegregate together with RHD. STUDY DESIGN AND METHODS: Samples from 148 white trios (father, mother and child) were studied. Rh phenotype was performed by hemagglutination. Hybrid Rhesus box, RHCE exon 1 G48C, RHCE exon 5 C733G and RHC intron 2 polymorphisms were analysed by PCR. Haplotypes were determined considering serological, molecular and segregation data. RESULTS: RHCE exon 1 C48 and RHCE exon 5 G733 were present in RHce alleles that cosegregated with RHD forming Dce haplotypes. Both transversions were not frequently found in the same RHce allele. Of the 33 Dce haplotypes, 16 (48.5%) had a C at position 48 [Dc(C48)e], 11 (33.3%) had a G at position 48 with a G at position 733 [Dc(G48)es], 5 (15.2%) had a G at position 48 [Dc(G48)e] and 1 (3.0%) had a C at position 48 with a G at position 733 [Dc(C48)es]. CONCLUSIONS: The results show four molecular backgrounds for the Dce haplotype and reflect the contribution of African alleles to the genetic pool of the population under study. The molecular characterization of Dce and its frequency distribution may develop a better understanding of the phylogeny of Rh haplotypes.