A Dc- phenotype encoded by an RHCE-D(5-7/8)-CE hybrid allele.

摘要

BACKGROUND AND OBJECTIVES: The Rh system is genetically controlled by the homologous RHD and RHCE genes that encode the RhD and RhCcEe polypeptides, respectively. Deletions, point mutations and rearrangements between both genes are responsible for the great polymorphism of this system. The aim of this work was to analyse the genetic basis of a Dc- phenotype. MATERIALS AND METHODS: DNA samples from the Dc- propositus and family members were obtained from peripheral blood. RHCE intron 4-exon 5 and RH exons 4, 5, 6 and 7 were analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Exon 9 was studied by PCR-sequence-specific primers (SSP). The RH locus was further analysed by using a PCR designed for a hybrid allele. RESULTS: No RHCE-specific fragments were found when analysing exons 5, 6 and 7 of the RH locus from the propositus' DNA, while exons 4 and 9 of both RH genes were present. CONCLUSIONS: The results obtained indicated that the Dc- phenotype is encoded by a novel RHCE-D(5-7/8)-CE hybrid allele.