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Molecular genetic basis of the histo-blood group ABO system

Abstract

The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas 0(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the 0 gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.

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Yamamoto, Fi., Clausen, H., White, T. et al. Molecular genetic basis of the histo-blood group ABO system. Nature 345, 229–233 (1990). https://doi.org/10.1038/345229a0

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