title: Molecular biology of partial D phenotypes.
abstract: 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.
authors.affiliation: International Blood Group Reference Laboratory, Bristol, UK.
authors.forename: N D
authors.initials: ND
authors.lastname: Avent
authors.forename: K M
authors.initials: KM
authors.lastname: Finning
authors.forename: W
authors.initials: W
authors.lastname: Liu
authors.forename: M L
authors.initials: ML
authors.lastname: Scott
mesh_terms: D004247:DNA / Q000032:analysis; D005091:Exons; D006801:Humans; D007438:Introns; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D012204:Rh-Hr Blood-Group System; D004247:DNA