Appendix 14. Discovery of cis-AB


In 1964, Seyfried reported a family case where the inheritance of ABO blood groups did not follow the one genetic locus-three allelic model proposed by Bernstein. The ABO blood types of the father and mother were O and AB, respectively, but those of their two children were AB. The blood type of the mother’s mother was O. The next year Yamaguchi and colleagues reported an A2B3 phenotype. The family study suggested that the A2B3 phenotype was inherited in the cis manner, and they named this allele the cis-AB allele. As opposed to the regular trans-type of AB where the A allele is derived from one parent and the B allele is derived from the other parent, the cis-AB behaves as one unit and transcends from one parent to the next generation. Yoshida and colleagues characterized A and B transferase activity in the sera of the cis-AB individuals, and proposed that there are two discrete molecular mechanisms of the occurrence of the cis-AB allele: either crossing over, resulting in 2 alleles on a chromosome, or structural mutations leading to the production of an enzyme with bifunctional activity. Our molecular study has identified structural mutations in several cis-AB alleles.

Appendix 15. Two examples of cis-AB inheritance

Appendix 01.Discovery of the ABO blood group system 

01. ABO Blood Group System


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