Molecular genetic basis of the histo-blood group ABO system

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...

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Bibliographic Details
Published in:Nature (London) 1990-05, Vol.345 (6272), p.229-233
Main Authors: Yamamoto, Fumi-ichiro, Clausen, Henrik, White, Thayer, Marken, John, Hakomori, Sen-itiroh
Format: Article
Language:English
Subjects:
ABO Blood-Group System - genetics
ABO system
Acids
Alleles
Amino Acid Sequence
Amino acids
Antigens
Base Sequence
Biochemistry
Biological and medical sciences
Blood
Blood groups
Carbohydrate Sequence
Carbohydrates
Cell Line
Cloning
deletion
Deoxyribonucleic acid
DNA
DNA - genetics
Enzymes
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Gene deletion
Gene Library
Genes
Genetics
Genotype
Genotype & phenotype
Genotypes
Glycosyltransferase
H antigen
Humanities and Social Sciences
Humans
Immunohematology
Laboratories
Molecular Sequence Data
multidisciplinary
Polymorphism, Genetic
Proteins
Red blood cell immunology
Science
Science (multidisciplinary)
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Description
Summary: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.
ISSN:0028-0836
1476-4687
DOI:10.1038/345229a0