16. ABO Alleles (cis-AB & B(A) Alleles)


In addition to the weak subgroup alleles, we also characterized mutations in the alleles that specified interesting phenomena of cis-AB and B(A). Cis-AB is a phenomenon where the expression of both A and B antigens are specified by a single allele, as opposed to regular trans-AB, which is the combination of A and B alleles from the father and mother. The cis-AB allele usually specifies a weak expression of A and a weaker expression of B (phenotypically A2B3) (Yamaguchi et al., 1965, 1966). B(A) was discovered when certain monoclonal anti-A antibodies were found to react with RBCs that were previously typed as B (Treacy and Stroup, 1987). B(A) is similar to cis-AB in the sense that one allele specifies the expression of both A and B antigens, however, B(A) specifies weak A antigen expression in addition to strong B antigen expression. By PCR amplification of genomic DNA and following DNA sequencing, we identified mutations in the cis-AB01 and B(A)01 alleles (Yamamoto et al., 1993b; Yamamoto et al., 1993c). We found that the proteins encoded by these alleles are A-B transferase chimeras. The cis-AB01 allele had a coding sequence identical to the A101 allele, except for G268A (the last of the four amino acid substitutions that discriminate the A and B transferase is alanine of B transferase). Conversely, the B(A)01 allele had a coding sequence identical to the B101 allele, except that the second of 4 amino acid substitutions is the amino acid of A transferase (G at codon 235 in place of S).

17. ABO Alleles 2008

01. ABO Blood Group System

Treacy, M., and Stroup, M. (1987). A scientific forum on blood grouping serum Anti-A (Murine Monoclonal Blend) BioClone*. Raritan, NJ: Ortho Diagnostic Systems.

Yamaguchi, H., Okubo, Y., and Hazama, F. (1965). An A2B3 phenotype blood showing atypical mode of inheritance. Proc Jpn Acad 41, 316-320.
Yamaguchi, H., Okubo, Y., and Hazama, F. (1966). Another Japanese A2B3 blood-group family with the propositus having O-group father. Proc Jpn Acad 42, 517-520.
Yamamoto, F., McNeill, P.D., Kominato, Y., Yamamoto, M., Hakomori, S., Ishimoto, S., Nishida, S., Shima, M., and Fujimura, Y. (1993b). Molecular genetic analysis of the ABO blood group system: 2. cis-AB alleles. Vox Sang 64, 120-123.

Yamamoto, F., McNeill, P.D., Yamamoto, M., Hakomori, S., and Harris, T. (1993c). Molecular genetic analysis of the ABO blood group system: 3. A(X) and B(A) alleles. Vox Sang 64, 171-174. 



Histo-blood group ABO system, blood group ABO system, ABO system, AB0 system, ABO blood groups, AB0 blood groups, ABO blood types, AB0 blood types, ABO genetic locus, ABO genes, ABO, AB0, A glycosyltransferases, B glycosyltransferases, glycosyltransferases, A transferase, B transferase, cell surface antigens, carbohydrate antigens, oligosaccharide antigens, oligosaccharides, complex carbohydrate antigens, complex carbohydrates, A antigen, B antigen, H antigen, red blood cell antigens, A/B antigens, ABH antigens, glycolipid, glycosphingolipids, glycoproteins, oligo sugars, red blood cells, RBC, blood transfusion, transfusion medicine, cell/tissue/organ transplantation, transplantation medicine, immunohematology, immunohaematology, immuno-hematology, immunology, ABO genotyping, forensic sciences, legal medicine, human genetics, population genetics, evolution, enzymology, glycobiology, glycosciences, human genes, primate genes, mouse gene, pig genes, alpha 1,3-Gal(NAc) transferases, a1,3-galactosyl transferase, a1,3-GalNAc transferase, structural basis, molecular genetic basis of ABO, ABO polymorphism, single nucleotide polymorphism, SNP, A, B, AB, O, A2, A3, Ax, B3, alleles, weak subgroups, homo sapiens, pig AO genes, cis-AB, B(A), mouse cis-AB gene, ABO genotype, ABO phenotype, DNA methylation, transcription, alternative splicing, Golgi apparatus, transferase chimeras, GBGT1, GGTA1, A3GALT2, monoclonal antibody, sera, plant lectins, Fumi-ichiro Yamamoto, Fumiichiro Yamamoto, F. Yamamoto, Landsteiner, enzyme, kinetics, sugar specificity, acceptor substrate specificity, acceptors, donors, sugars, nucleotide-sugars, genetic engineering, differential susceptibility to infectious diseases, differential cancer susceptibility, alterations in glycosylation in cancer, pancreatic cancer, diets, Peter D'Adamo, Blood type diets, neurobiology, Masahiko Nomi, personality, Burnham Institute, Burnham Institute for Medical Research, Biomembrane Institute, IMPPC, IMPPC Institute of Predictive and Personalized Medicine of Cancer, Institut de Medicina Predictiva i Personalitzada del Càncer,  AABB, ISBT, dbRBC - Blood Group Antigen Gene Mutation Database