Molecular genetic basis of the histo-blood group ABO system |
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Authors: | F Yamamoto H Clausen T White J Marken S Hakomori |
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Affiliation: | Biomembrane Institute, Seattle, Washington. |
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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 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. |
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