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Molecular genetic basis of the human Rhesus blood group system

Nature Genetics volume 5, pages 62–65 (1993)Cite this article

Abstract

The Rhesus (RH) blood group locus is composed of two related structural genes, D and CcEe, that encode red cell membrane proteins carrying the D, Cc and Ee antigens. As demonstrated previously, the RhD–positive/RhD–negative polymorphism is associated with the presence or the absence of the D gene. Sequence analysis of transcripts and genomic DNA from individuals that belong to different Rh phenotypes were performed to determine the molecular basis of the C/c and E/e polymorphisms. The E and e alleles differ by a single nucleotide resulting in a Pro226Ala substitution, whereas the C and c alleles differ by six nucleotides producing four amino acid substitutions Cys16Trp, He60Leu, Ser68Asn and Ser103Pro. With the recent cloning of the RhD gene, these findings provide the molecular genetic basis that determine D, C, c, E and e specificities.

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Authors and Affiliations

  1. Unité INSERM U76, Institut National de Transfusion Sanguine, 6 rue Alexandre Cabanel, 75015, Paris, France

    Isabelle Mouro, Yves Colin, Baya Chérif-Zahar, Jean-Pierre Cartron & Caroline Le Van Kim

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  1. Isabelle Mouro
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  2. Yves Colin
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  3. Baya Chérif-Zahar
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  4. Jean-Pierre Cartron
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  5. Caroline Le Van Kim
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Mouro, I., Colin, Y., Chérif-Zahar, B. et al. Molecular genetic basis of the human Rhesus blood group system. Nat Genet 5, 62–65 (1993). https://doi.org/10.1038/ng0993-62

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