Abstract
BackgroundAberrant and non-functional RHD alleles are much more frequent in Africans than in Europeans. The DAU cluster of RHD alleles exemplifies that the alleles frequent in Africans have evaded recognition until recently. A comprehensive survey of RHD alleles in any African population was lacking.ResultsWe surveyed the molecular structure and frequency of RHD alleles in Mali (West Africa) by evaluating 116 haplotypes. Only 69% could be attributed to standard RHD (55%) or the RHD deletion (14%). The aberrant RHD allele DAU-0 was predicted for 19%, RHDΨ for 7% and Ccdes for 4% of all haplotypes. DAU-3 and the new RHD allele RHD(L207F), dubbed DMA, were found in one haplotype each. A PCR-RFLP for the detection of the hybrid Rhesus box diagnostic for the RHD deletion in Europeans was false positive in 9 individuals, including all carriers of RHDΨ . Including two silent mutations and the RHD deletion, a total of 9 alleles could be differentiated.ConclusionBesides standard RHD and the RHD deletion, DAU-0, RHDΨ and Ccdes are major alleles in Mali. Our survey proved that the most frequent alleles of West Africans have been recognized allowing to devise reliable genotyping and phenotyping strategies.
Highlights
Aberrant and non-functional RHD alleles are much more frequent in Africans than in Europeans
We performed a random survey to determine the molecular structure and frequency of RHD alleles present in the inhabitants of Mali, who are representative of a native West African population of Mali
Disregarding polymorphism in the non-coding regions, the set of data shown in Table 1 could be efficiently explained by the occurrence of 8 RHD alleles (Table 1) and the RHD deletion
Summary
Aberrant and non-functional RHD alleles are much more frequent in Africans than in Europeans. A comprehensive survey of RHD alleles in any African population was lacking. Among Europeans, the presence and absence of the antigen D on the red blood cells (RBC) correlates closely with the presence of the "standard" RHD allele and a deletion of the whole RHD gene, respectively. About 1% of Europeans carry aberrant RHD alleles encoding variant antigen D [2,3,4], which may cause typing problems or are permissive to immunization by a normal antigen D. For people of African descent a different scenario emerged: D negative Africans often carry RHD alleles like RHDΨ [5] and Ccdes [6], which harbor large remnants of the RHD gene. Some partial D alleles (page number not for citation purposes)
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