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    Nature. 1990 May 17;345(6272):229-33.

    Molecular genetic basis of the histo-blood group ABO system.

    Yamamoto F, Clausen H, White T, Marken J, Hakomori S.

    Biomembrane Institute, Seattle, Washington.

    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 O(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 O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.

    PMID: 2333095 [PubMed - indexed for MEDLINE]

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