Molecular biology of partial D phenotypes

Transfus Clin Biol. 1996;3(6):511-6. doi: 10.1016/s1246-7820(96)80073-5.


We have examined all DVI variant phenotypes submitted to the workshop by a combination of RT-PCR, multiplex RHD PCR and immunoblotting with Rh antipeptide sera. Our findings suggest that all DVI phenotypes arise through hybrid RHD-RHCE-RHD genes. Genomic DNA derived from all DVI samples were shown to be RHD intron 4 negative when analysed with an RHD intron 4/exon 10 multiplex assay. We assume therefore that all DVI phenotypes involve gene conversion events involving at least exons 4 and 5 of the RHD gene. Analysis of a novel D and E variant phenotype individual (ISBT49) by RT-PCR has allowed the identification of a hybrid Rh gene composed of exons 1-4 RHD: 5 RHCE/D and 6-10 RHD. We propose that the partial D & E phenotype observed arises through D & E expression on the hybrid RHD-RHCE-RHD protein: as no transcripts encoding Rh E could be found.

MeSH terms

  • DNA / analysis
  • Exons
  • Humans
  • Introns
  • Phenotype
  • Rh-Hr Blood-Group System / genetics*
  • Sequence Analysis, DNA


  • Rh-Hr Blood-Group System
  • DNA