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

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Yamamoto, F; Clausen, H; White, T; Marken, J; Hakomori, S
Year of Publication: 1990
Journal: Nature
Volume: 345
Issue: 6272
Pagination: 229-33
Date Published: 1990 May 17
Publication Language: eng
ISSN: 0028-0836
Keywords: ABO Blood-Group System, Alleles, Amino Acid Sequence, Base Sequence, Carbohydrate Sequence, Cell Line, DNA, Gene Library, Genotype, Humans, Molecular Sequence Data, Polymorphism, Genetic

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.

DOI: 10.1038/345229a0
Alternate Journal: Nature
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