19. ABO Allele Mutations


Important mutations in human ABO genes are categorized. Different molecular mechanisms may be responsible for seemingly identical phenotypes. For example, the B3 phenotype may be caused by a missense mutation (A301 allele: D291N), a splicing mutation (B303), or the combination of a missense mutation and a single nucleotide deletion, possibly due to recombination (A302: V277M and 1060delC). The kinds of mutations responsible for the ABO subgroups range from missense mutations (A202, A203, A207, A301, A303, Ax01, Ax07, Ax12, Ax13, Bx02, Bx03, etc.), frame-shift mutations due to nucleotide deletions (O01, O02, A206, Ael03, etc.), frame-shift mutations due to nucleotide insertions (Ael01, Bw20, etc.), splicing mutations (Ael04, B303, etc.), an initiation codon mutation (Aw13), and recombination (A302, Aw07, etc.). Nonsense mutations have yet to be found. A localization mutation has recently been found in 2008.


20. Transfection Analysis

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