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

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.

DOI: 10.1038/345229a0

Custom 1:

http://www.ncbi.nlm.nih.gov/pubmed/2333095?dopt=Abstract

Alternate Journal: Nature

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