RHD allele distribution in Africans of Mali

BMC Genetics

Willy A Flegel¹  Bourema Kouriba⁴  Anatole Tounkara⁴  Joann M Moulds³  Franz F Wagner² 

[1] Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, Germany;Blood Service of the German Red Cross N.S.T.O.B., Springe, Germany;Department of Microbiology and Immunology, Drexel University College of Medicine, Philadelphia, USA;Centre National de Transfusion Sanguine, Bamako, Mali

关键词: genotyping;    RHD gene;    red cell antigen;    partial D antigen;    Rh;    Rhesus;   

Others  :  1143919
DOI  :  10.1186/1471-2156-4-14

 received in 2003-06-30, accepted in 2003-09-24,  发布年份 2003

【 摘 要 】

Background

Aberrant 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.

Results

We 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 Ccde^s 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.

Conclusion

Besides standard RHD and the RHD deletion, DAU-0, RHDΨ and Ccde^s 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.

【 授权许可】

   
2003 Wagner et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.

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