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 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.
Yamamoto
F
F
Biomembrane Institute, Seattle, Washington.
Clausen
H
H
White
T
T
Marken
J
J
Hakomori
S
S
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002240:Carbohydrate Sequence; D002460:Cell Line; D004247:DNA / Q000235:genetics; D015723:Gene Library; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic
D000017:ABO Blood-Group System; D004247:DNA