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Gene Review

ABO  -  ABO blood group (transferase A, alpha 1-3...

Homo sapiens

Synonyms: A transferase, A3GALNT, A3GALT1, B transferase, Fucosylglycoprotein 3-alpha-galactosyltransferase, ...
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Disease relevance of ABO


Psychiatry related information on ABO

  • In 15 tumors and 3 normal biopsies from blood group AB individuals and 7 tumors and 3 normal biopsies from blood group O individuals, mRNA was detected by a reverse transcription PCR (RT-PCR) assay, and the ABO blood group structure was determined by immunohistology [5].
  • Hysteria and ABO blood types [6].
  • ABO, Lewis, and secretor phenotypes did not account for the potential genetic heterogeneity of subjects toward smoking, but alcohol consumption appeared to exert a protective effect on lung function in Lewis-negative subjects (10% of Caucasians) [7].
  • Individual differences were seen in human glands, where oligosaccharide structure varied in relation to ABO blood group [8].
  • We discuss methodological issues related to the control samples and choice of statistical methods in the reported studies which have looked for associations between ABO blood types and patients diagnosed as having an affective disorder [9].

High impact information on ABO

  • The risk of acute infection was also associated with a history of recurrent infection (relative risk, 5.58 in the university group and 2.10 in the HMO group) but not with cervical-cap use, ABO-blood-group nonsecretor phenotype, or delayed postcoital voiding [10].
  • We determined the ABO, P, and Lewis blood-group phenotypes in 49 white women with histories of recurrent urinary tract infections and compared them with those found in 49 healthy control women without recurrent urinary tract infections [11].
  • Donor corneas were selected on the basis of ABO-blood-group compatibility, a negative lymphocyte crossmatch, and optimal HLA-A and B matching; all clinical personnel were "masked" to the degree of HLA matching during the study [12].
  • HLA and ABO blood groups in blacks with mitral-valve prolapse [13].
  • In a prospective, controlled, randomized study to evaluate the efficacy of filtration-leukapheresis granulocytes in granulocytopenic, febrile patients with leukemia, 19 patients received antibiotics alone, and 12 received antibiotics plus daily granulocyte transfusions from ABO-matched donors [14].

Chemical compound and disease context of ABO


Biological context of ABO

  • Here we present a molecular basis for the ABO genotypes [20].
  • Molecular genetic basis of the histo-blood group ABO system [20].
  • In contradiction to the general Mendelian inheritance of blood group ABO expression, the A and B characteristics are inherited together from one parent in the rare Cis-AB phenotype [21].
  • The full coding region (exons 1-7) and 2 proposed regulatory regions of the ABO gene were sequenced in selected A (n = 22) or B (n = 12) subgroup samples [22].
  • Samples from individuals found to have known subgroup alleles (n = 53), acquired ABO phenotypes associated with different medical conditions (n = 65), probable chimerism (n = 3), and common red blood cell phenotypes (n = 109) were evaluated by ABO genotype screening only [22].

Anatomical context of ABO

  • CONCLUSION: Based on these results, it is concluded that the transcription of both H and ABO genes starts early in immature peripheral blood progenitor cells but gradually decreases during cellular maturation and also that the H antigen maintains a high level of expression thereafter [23].
  • The highest expression of ABO mRNA was found in K-562 and KOPM-28 cell lines and it decreased along with cell maturation [23].
  • 1. We analyzed loss of heterozygosity (LOH) and promoter hypermethylation of the ABO gene in TCC and compared them with alterations of A antigen expression in TCC, dysplasia and normal urothelium [2].
  • HeLa cells were used to transfect ABO expression plasmids [24].
  • STUDY DESIGN AND METHODS: FUT1(H), ABO, and beta 2-microglobulin mRNA were determined by semiquantitative RT-PCR from 27 hematopoietic cultured cell lines showing various differentiation stages and cell lineages and normal PBMNCs [23].

Associations of ABO with chemical compounds

  • An influence of the ABO blood group on von Willebrand and Factor VIII:C levels is known [25].
  • Crystal structures at 1.8-1.32 A resolution of the GTA and GTB enzymes both free and in complex with disaccharide H-antigen acceptor and UDP reveal the basis for donor and acceptor specificity and show that only two of the critical amino acid residues are positioned to contact donor or acceptor substrates [26].
  • The final step in B antigen synthesis is carried out by an alpha1-3 galactosyltransferase (GTB) that transfers galactose from UDP-Gal to type 1 or type 2, alphaFuc1-->2betaGal-R (H)-terminating acceptors [27].
  • It had codons corresponding to GTB with a single point mutation that replaced the conserved amino acid proline 234 with serine [27].
  • ABO blood group antigens are covalently associated with asparagine-linked sugar chains of plasma vWF [28].

Physical interactions of ABO

  • Effect of ABO blood group on the collagen-binding assay for von Willebrand factor [29].
  • We show that a sequence located between positions -22 and -14 of the ABO promoter binds a ubiquitous transcription factor Sp1 or Sp1-like protein(s) [30].
  • The etiology of ABO hemolytic disease of the newborn is complex because of the natural presence of anti-A and/or anti-B in individuals who do not possess the A and/or B antigen [31].

Regulatory relationships of ABO


Other interactions of ABO

  • Among the genetic factors, only the ABO gene located on chromosome 9q34 has been clearly linked to the plasma levels of vWF [37].
  • Africans, Indians and Caucasians with blood group O showed significantly lower VWF:Ag and FVIII than the other ABO blood groups [38].
  • 5'-Rapid amplification of cDNA ends analysis of RNA from those cells revealed a novel transcription start site, which appeared to mark an alternative starting exon (1a) comprising 27 bp at the 5'-end of a CpG island in ABO genes [39].
  • These results may reflect the active synthesis of H and ABO antigens in normal hematopoietic peripheral blood progenitor cells [23].
  • The expression level of each cell was analyzed with computer software (Image, NIH) and was shown as the ratio of ABO mRNA or H mRNA to beta 2-microglobulin mRNA [23].

Analytical, diagnostic and therapeutic context of ABO


  1. Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma. Gao, S., Worm, J., Guldberg, P., Eiberg, H., Krogdahl, A., Liu, C.J., Reibel, J., Dabelsteen, E. Int. J. Cancer (2004) [Pubmed]
  2. Loss of blood group A antigen expression in bladder cancer caused by allelic loss and/or methylation of the ABO gene. Chihara, Y., Sugano, K., Kobayashi, A., Kanai, Y., Yamamoto, H., Nakazono, M., Fujimoto, H., Kakizoe, T., Fujimoto, K., Hirohashi, S., Hirao, Y. Lab. Invest. (2005) [Pubmed]
  3. Type 1 von Willebrand disease - a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history. Nitu-Whalley, I.C., Lee, C.A., Griffioen, A., Jenkins, P.V., Pasi, K.J. Br. J. Haematol. (2000) [Pubmed]
  4. Genomic cloning of the human histo-blood group ABO locus. Bennett, E.P., Steffensen, R., Clausen, H., Weghuis, D.O., van Kessel, A.G. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  5. The blood group ABO gene transcript is down-regulated in human bladder tumors and growth-stimulated urothelial cell lines. Orntoft, T.F., Meldgaard, P., Pedersen, B., Wolf, H. Cancer Res. (1996) [Pubmed]
  6. Hysteria and ABO blood types. Rinieris, P.M., Stefanis, C.N., Lykouras, E.P., Varsou, E.K. The American journal of psychiatry. (1978) [Pubmed]
  7. Associations of blood group-related antigens to FEV1, wheezing, and asthma. Kauffmann, F., Frette, C., Pham, Q.T., Nafissi, S., Bertrand, J.P., Oriol, R. Am. J. Respir. Crit. Care Med. (1996) [Pubmed]
  8. Genetic and sex-related differences in the structure of submandibular glycoconjugates. Schulte, B.A. J. Dent. Res. (1987) [Pubmed]
  9. Affective disorders and ABO blood groups: new data and a reanalysis of the literature using the logistic transformation of proportions. Lavori, P.W., Keller, M.B., Roth, S.L. Journal of psychiatric research. (1984) [Pubmed]
  10. A prospective study of risk factors for symptomatic urinary tract infection in young women. Hooton, T.M., Scholes, D., Hughes, J.P., Winter, C., Roberts, P.L., Stapleton, A.E., Stergachis, A., Stamm, W.E. N. Engl. J. Med. (1996) [Pubmed]
  11. Association of the Lewis blood-group phenotype with recurrent urinary tract infections in women. Sheinfeld, J., Schaeffer, A.J., Cordon-Cardo, C., Rogatko, A., Fair, W.R. N. Engl. J. Med. (1989) [Pubmed]
  12. Reduced graft rejection with good HLA-A and B matching in high-risk corneal transplantation. Sanfilippo, F., MacQueen, J.M., Vaughn, W.K., Foulks, G.N. N. Engl. J. Med. (1986) [Pubmed]
  13. HLA and ABO blood groups in blacks with mitral-valve prolapse. Kachiru, R.B., Telischi, M., Cruz, J.B., Patel, R., Towne, W.D. N. Engl. J. Med. (1978) [Pubmed]
  14. A randomized clinical trial of granulocyte transfusions for infection in acute leukemia. Alavi, J.B., Root, R.K., Djerassi, I., Evans, A.E., Gluckman, S.J., MacGregor, R.R., Guerry, D., Schreiber, A.D., Shaw, J.M., Koch, P., Cooper, R.A. N. Engl. J. Med. (1977) [Pubmed]
  15. Amino-acid substitution in the disordered loop of blood group B-glycosyltransferase enzyme causes weak B phenotype. Yazer, M.H., Denomme, G.A., Rose, N.L., Palcic, M.M. Transfusion (2005) [Pubmed]
  16. Use of the gel test to follow up chimerism in ABO mismatched bone marrow transplantation patient: a case report. Lumkul, R., Nathalang, O., Arnutti, P., Janyatham, A., Torcharus, K., Krutvecheo, T., Sriphaisal, T. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (2005) [Pubmed]
  17. Coronary artery disease in pediatric cardiac transplant recipients receiving triple-drug immunosuppression. Braunlin, E.A., Hunter, D.W., Canter, C.E., Gutierrez, F.R., Ring, W.S., Olivari, M.T., Titus, J.L., Spray, T.L., Bolman, R.M. Circulation (1991) [Pubmed]
  18. Donor-derived red blood cell antibodies and immune hemolysis after allogeneic bone marrow transplantation. Hows, J., Beddow, K., Gordon-Smith, E., Branch, D.R., Spruce, W., Sniecinski, I., Krance, R.A., Petz, L.D. Blood (1986) [Pubmed]
  19. Effect of donor age and sex on the outcome of liver transplantation. Marino, I.R., Doyle, H.R., Aldrighetti, L., Doria, C., McMichael, J., Gayowski, T., Fung, J.J., Tzakis, A.G., Starzl, T.E. Hepatology (1995) [Pubmed]
  20. Molecular genetic basis of the histo-blood group ABO system. Yamamoto, F., Clausen, H., White, T., Marken, J., Hakomori, S. Nature (1990) [Pubmed]
  21. Genetic mechanism of cis-AB inheritance. I. A case associated with unequal chromosomal crossing over. Yoshida, A., Yamaguchi, H., Okubo, Y. Am. J. Hum. Genet. (1980) [Pubmed]
  22. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles. Olsson, M.L., Irshaid, N.M., Hosseini-Maaf, B., Hellberg , A., Moulds, M.K., Sareneva, H., Chester, M.A. Blood (2001) [Pubmed]
  23. Expression levels of H-type alpha(1,2)-fucosyltransferase gene and histo-blood group ABO gene corresponding to hematopoietic cell differentiation. Hosoi, E., Hirose, M., Hamano, S. Transfusion (2003) [Pubmed]
  24. Missense mutations outside the catalytic domain of the ABO glycosyltransferase can cause weak blood group A and B phenotypes. Seltsam, A., Blasczyk, R. Transfusion (2005) [Pubmed]
  25. Platelet function and ABO blood group. Sweeney, J.D., Labuzetta, J.W., Hoernig, L.A., Fitzpatrick, J.E. Am. J. Clin. Pathol. (1989) [Pubmed]
  26. The structural basis for specificity in human ABO(H) blood group biosynthesis. Patenaude, S.I., Seto, N.O., Borisova, S.N., Szpacenko, A., Marcus, S.L., Palcic, M.M., Evans, S.V. Nat. Struct. Biol. (2002) [Pubmed]
  27. A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. Marcus, S.L., Polakowski, R., Seto, N.O., Leinala, E., Borisova, S., Blancher, A., Roubinet, F., Evans, S.V., Palcic, M.M. J. Biol. Chem. (2003) [Pubmed]
  28. ABO blood group antigens on human plasma von Willebrand factor after ABO-mismatched bone marrow transplantation. Matsui, T., Shimoyama, T., Matsumoto, M., Fujimura, Y., Takemoto, Y., Sako, M., Hamako, J., Titani, K. Blood (1999) [Pubmed]
  29. Effect of ABO blood group on the collagen-binding assay for von Willebrand factor. Haley, E., Babar, N., Ritter, C., Downes, K.A., Green, D., Shurin, S., Sarode, R. Am. J. Hematol. (2002) [Pubmed]
  30. Characterization of the human ABO gene promoter in erythroid cell lineage. Hata, Y., Kominato, Y., Yamamoto, F.I., Takizawa, H. Vox Sang. (2002) [Pubmed]
  31. The etiology of ABO hemolytic disease of the newborn. Grundbacher, F.J. Transfusion (1980) [Pubmed]
  32. The effect of ABO blood group on the diagnosis of von Willebrand disease. Gill, J.C., Endres-Brooks, J., Bauer, P.J., Marks, W.J., Montgomery, R.R. Blood (1987) [Pubmed]
  33. The role of cytokines in hemolytic transfusion reactions. Davenport, R.D. Immunol. Invest. (1995) [Pubmed]
  34. Expression of human histo-blood group ABO genes is dependent upon DNA methylation of the promoter region. Kominato, Y., Hata, Y., Takizawa, H., Tsuchiya, T., Tsukada, J., Yamamoto, F. J. Biol. Chem. (1999) [Pubmed]
  35. Red cell antigens and renal transplantation. Duguid, J.K., Hillis, A.N., Bone, J.M. Transplantation (1990) [Pubmed]
  36. Granulocyte transfusion as a treatment for enterococcal meningoencephalitis after allogeneic bone marrow transplantation from an unrelated donor. Tsukada, Y., Nagayama, H., Mori, T., Shimizu, T., Sato, N., Takayama, N., Ishida, A., Handa, M., Ikeda, Y., Okamoto, S. Bone Marrow Transplant. (2003) [Pubmed]
  37. Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Souto, J.C., Almasy, L., Soria, J.M., Buil, A., Stone, W., Lathrop, M., Blangero, J., Fontcuberta, J. Thromb. Haemost. (2003) [Pubmed]
  38. Ethnic variation in von Willebrand factor levels can influence the diagnosis of von Willebrand disease. Sukhu, K., Poovalingam, V., Mahomed, R., Giangrande, P.L. Clinical and laboratory haematology. (2003) [Pubmed]
  39. Alternative promoter identified between a hypermethylated upstream region of repetitive elements and a CpG island in human ABO histo-blood group genes. Kominato, Y., Hata, Y., Takizawa, H., Matsumoto, K., Yasui, K., Tsukada, J., Yamamoto, F. J. Biol. Chem. (2002) [Pubmed]
  40. Single-tube multiplex PCR-SSCP analysis distinguishes 7 common ABO alleles and readily identifies new alleles. Yip, S.P. Blood (2000) [Pubmed]
  41. A weak blood group A phenotype caused by a new mutation at the ABO locus. Seltsam, A., Hallensleben, M., Eiz-Vesper, B., Lenhard, V., Heymann, G., Blasczyk, R. Transfusion (2002) [Pubmed]
  42. Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype. Olsson, M.L., Chester, M.A. Transfusion medicine (Oxford, England) (1998) [Pubmed]
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