Molecular characterization of a new D- - haplotype in a Comorian man.

M. Silvy (1, 2) , S. Chapel-Fernandes (1, 2) , S. Beley (1, 2) , C. Durousseau (1, 2) , T. Granier (1, 2) , Jp Zappitelli (1, 2) , P. Bailly (1, 2) , J. Chiaroni (1, 2)

1 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
2 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée

The D- - phenotype is a genetic variant of the Rh blood group system. It expresses D antigen but lacks C, c, E and e antigens. In D- - phenotype, the RHCE coding region is extensively modified by RHD sequence replacement, nucleotide deletion or splice-site changes. This article reports the identification of a new D- - haplotype in a Comorian man. It exhibits a hybrid gene in which RHCE gene exons 3-8 have been replaced by RHD sequences on the RHCE * C allele background. This allele is associated with no expression of c/C and e/E antigens and overexpression of RhD antigen

Domaines: Hématologie

M. Silvy, S. Chapel-Fernandes, S. Beley, C. Durousseau, T. Granier, et al.. Molecular characterization of a new D- - haplotype in a Comorian man.. Vox Sanguinis, 2012, 103 (4), pp.352-5. ⟨10.1111/j.1423-0410.2012.01620.x⟩. ⟨hal-00763199⟩