Wagner Franz F, Ladewig Birgit, Angert Katharina S, Heymann Guido A, Eicher Nicole I, Flegel Willy A
Abteilung Transfusionsmedizin, Universitätsklinikum Ulm and DRK Blutspendedienst Baden-Württemberg-Hessen, Institut Ulm, Ulm, Germany.
Blood. 2002 Jul 1;100(1):306-11. doi: 10.1182/blood-2002-01-0320.
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.
D变异型在非洲人中频繁出现。然而,与欧洲人相比,该人群中描述的RHD等位基因要少得多。我们鉴定了5个新的RHD等位基因,命名为DAU-0至DAU-4,它们共享T379M替换,且出现在一个cDe单倍型中。DAU-1至DAU-4在具有部分D表型的非洲人中被检测到。它们分别携带1个和2个额外的错义突变,分散在整个RhD蛋白中。在DAU-3中发现了抗-D免疫反应。仅携带T379M的DAU-0通过筛查欧洲献血者被检测到,并表现出正常的D表型。在RHD等位基因的系统发育中,DAU形成了一个独立的等位基因簇,与DIVa、弱D型4和欧亚D簇分开。RH系统发育的特征为未来关于RH等位基因的研究提供了一个框架。DAU等位基因的鉴定显著增加了非洲人中已知的部分D等位基因的数量。DAU等位基因可能是非洲裔患者中抗原D变异性和抗-D免疫反应的主要原因。