The DAU allele cluster of the RHD gene.
Variant D occurs frequently in Africans. However, considerably less RHD alleles have been described in this population compared with Europeans. We characterized 5 new RHD alleles, dubbed DAU-0 to DAU-4, that shared a T379M substitution and occurred in a cDe haplotype. DAU-1 to DAU-4 were detected in Africans with partial D phenotypes. They harbored one and 2 additional missense mutations, respectively, dispersed throughout the RhD protein. An anti-D immunization was found in DAU-3. DAU-0 carrying T379M only was detected by screening European blood donors and expressed a normal D phenotype. Within the phylogeny of the RHD alleles, DAU formed an independent allele cluster, separate from the DIVa, weak D type 4, and Eurasian D clusters. The characterization of the RH phylogeny provided a framework for future studies on RH alleles. The identification of the DAU alleles increased the number of known partial D alleles in Africans considerably. DAU alleles may be a major cause of antigen D variability and anti-D immunization in patients of African descent.
Wagner
Franz F
FF
Abteilung Transfusionsmedizin, Universitätsklinikum Ulm and DRK Blutspendedienst Baden-Württemberg-Hessen, Institut Ulm, Ulm, Germany.
Ladewig
Birgit
B
Angert
Katharina S
KS
Heymann
Guido A
GA
Eicher
Nicole I
NI
Flegel
Willy A
WA
D000349:Africa / Q000453:epidemiology; D000483:Alleles; D019943:Amino Acid Substitution / Q000276:immunology; D044383:Black People / Q000235:genetics; D000939:Epitopes / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics / Q000276:immunology; D006801:Humans; D005810:Multigene Family; D010641:Phenotype; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D012203:Rh Isoimmunization / Q000235:genetics; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology
D000939:Epitopes; D012204:Rh-Hr Blood-Group System