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Volumn 15, Issue 6, 2008, Pages 618-624

Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles

Author keywords

ABO; Allele; Genotype; Nondeletional; O; O2; Phenotype

Indexed keywords

BLOOD GROUP A ANTIGEN; GLYCOSYLTRANSFERASE;

EID: 55149091094     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e3283127062     Document Type: Review
Times cited : (24)

References (30)
  • 1
    • 55149112328 scopus 로고    scopus 로고
    • Pretransfusion testing
    • Waters J, editor, 1st ed. Bethesda, Maryland: AABB Press; pp
    • Yazer MH. Pretransfusion testing. In: Waters J, editor. Blood management: options for better patient care. 1st ed. Bethesda, Maryland: AABB Press; pp. 137-158.
    • Blood management: Options for better patient care , pp. 137-158
    • Yazer, M.H.1
  • 2
    • 0028821429 scopus 로고
    • Genomic organization of human histoblood group ABO genes
    • Yamamoto F, McNeill PD, Hakomori S. Genomic organization of human histoblood group ABO genes. Glycobiology 1995; 5:51-58.
    • (1995) Glycobiology , vol.5 , pp. 51-58
    • Yamamoto, F.1    McNeill, P.D.2    Hakomori, S.3
  • 3
    • 0346096786 scopus 로고    scopus 로고
    • Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database
    • Available at
    • Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database. Hum Mutat 2004; 23:8-16; Available at: http://www.ncbi.nlm. nih.gov/projects/gv/mhc/xslcgi.cgi?cmd=bgmut/home.
    • (2004) Hum Mutat , vol.23 , pp. 8-16
    • Blumenfeld, O.O.1    Patnaik, S.K.2
  • 4
    • 0025270738 scopus 로고
    • Molecular genetic basis of the histoblood group ABO system
    • Yamamoto F, Clausen H, White T, et al. Molecular genetic basis of the histoblood group ABO system. Nature 1990; 345:229-233.
    • (1990) Nature , vol.345 , pp. 229-233
    • Yamamoto, F.1    Clausen, H.2    White, T.3
  • 5
    • 0030051593 scopus 로고    scopus 로고
    • 1 gene at the blood group ABO locus
    • 1 gene at the blood group ABO locus. Vox Sang 1996; 70:26-30.
    • (1996) Vox Sang , vol.70 , pp. 26-30
    • Olsson, M.L.1    Chester, M.A.2
  • 7
    • 0034888213 scopus 로고    scopus 로고
    • Polymorphism and recombination events at the ABO locus: A major challenge for genomic ABO blood grouping strategies
    • Olsson ML, Chester MA. Polymorphism and recombination events at the ABO locus: a major challenge for genomic ABO blood grouping strategies. Transfus Med 2001; 11:295-313.
    • (2001) Transfus Med , vol.11 , pp. 295-313
    • Olsson, M.L.1    Chester, M.A.2
  • 8
    • 15244350749 scopus 로고    scopus 로고
    • Nondeletional ABO*O alleles express weak blood group A phenotypes
    • Seltsam A, Das Gupta C, Wagner FF, et al. Nondeletional ABO*O alleles express weak blood group A phenotypes. Transfusion 2005; 45:359-365.
    • (2005) Transfusion , vol.45 , pp. 359-365
    • Seltsam, A.1    Das Gupta, C.2    Wagner, F.F.3
  • 9
    • 48249146230 scopus 로고    scopus 로고
    • Investigation into A antigen expression on O2 heterozygous group O-labeled red blood cell units
    • Yazer MH, Huit AK, Hellberg Å, et al. Investigation into A antigen expression on O2 heterozygous group O-labeled red blood cell units. Transfusion 2008; 48:1650-1657.
    • (2008) Transfusion , vol.48 , pp. 1650-1657
    • Yazer, M.H.1    Huit, A.K.2    Hellberg, A.3
  • 10
    • 12844268112 scopus 로고    scopus 로고
    • 2 protein, and provides a potential structural basis for the phenomenon of allelic enhancement.
    • 2 protein, and provides a potential structural basis for the phenomenon of allelic enhancement.
  • 11
    • 23844457636 scopus 로고    scopus 로고
    • Wagner FF, Blasczyk R, Seltsam A. Nondeletional ABO*O alleles frequently cause blood donor typing problems. Transfusion 2005; 45:1331-1334.
    • Wagner FF, Blasczyk R, Seltsam A. Nondeletional ABO*O alleles frequently cause blood donor typing problems. Transfusion 2005; 45:1331-1334.
  • 12
    • 12444347830 scopus 로고    scopus 로고
    • New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes
    • This is an extensive report detailing the genotype and phenotype of various nondeletional group O alleles. The authors speculate on how a hybrid between a deletional and a nondeletional O allele might confer GTA activity to its protein
    • Hosseini-Maaf B, Irshaid NM, Hellberg A, et al. New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. Transfusion 2005; 45:70-81. This is an extensive report detailing the genotype and phenotype of various nondeletional group O alleles. The authors speculate on how a hybrid between a deletional and a nondeletional O allele might confer GTA activity to its protein.
    • (2005) Transfusion , vol.45 , pp. 70-81
    • Hosseini-Maaf, B.1    Irshaid, N.M.2    Hellberg, A.3
  • 13
    • 0027503638 scopus 로고
    • Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele
    • Yamamoto F, McNeill PD, Yamamoto M, et al. Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele. Vox Sang 1993; 64:175-178.
    • (1993) Vox Sang , vol.64 , pp. 175-178
    • Yamamoto, F.1    McNeill, P.D.2    Yamamoto, M.3
  • 14
    • 0029960005 scopus 로고    scopus 로고
    • Yamamoto F, McNeill PD. Amino acid residue at codon 268 determines both activity and nucleotide-sugar donor substrate specificity of human histo-blood group A and B transferases. In vitro mutagenesis study. J Biol Chem 1996; 271:10515-10520.
    • Yamamoto F, McNeill PD. Amino acid residue at codon 268 determines both activity and nucleotide-sugar donor substrate specificity of human histo-blood group A and B transferases. In vitro mutagenesis study. J Biol Chem 1996; 271:10515-10520.
  • 15
    • 35448943597 scopus 로고    scopus 로고
    • Hosseini-Maaf B, Hellberg A, Chester MA, et al. An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles. Transfusion 2007; 47:2110-2125. This is the first description of an ABO genotyping method that not only detects the consensus and most of the common alleles, but also many of the hybrid and unusual alleles that can confound other genotyping systems.
    • Hosseini-Maaf B, Hellberg A, Chester MA, et al. An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles. Transfusion 2007; 47:2110-2125. This is the first description of an ABO genotyping method that not only detects the consensus and most of the common alleles, but also many of the hybrid and unusual alleles that can confound other genotyping systems.
  • 17
    • 0037020255 scopus 로고    scopus 로고
    • Alternative promoter identified between a hypermethylated upstream region of repetitive elements and a CpG island in human ABO histo-blood group genes
    • This is an interesting study that identified a putative new exon in the ABO gene from which transcription might begin. Lacking an ATG start codon, translation of the transcript would have to begin downstream
    • Kominato Y, Hata Y, Takizawa H, et al. Alternative promoter identified between a hypermethylated upstream region of repetitive elements and a CpG island in human ABO histo-blood group genes. J Biol Chem 2002; 277:37936-37948. This is an interesting study that identified a putative new exon in the ABO gene from which transcription might begin. Lacking an ATG start codon, translation of the transcript would have to begin downstream.
    • (2002) J Biol Chem , vol.277 , pp. 37936-37948
    • Kominato, Y.1    Hata, Y.2    Takizawa, H.3
  • 18
    • 0242670012 scopus 로고    scopus 로고
    • Transcription starting from an alternative promoter leads to the expression of the human ABO histo-blood group antigen
    • Hata Y, Kominato Y, Takizawa H, Tabata S, et al. Transcription starting from an alternative promoter leads to the expression of the human ABO histo-blood group antigen. Transfusion 2003; 43:656-662.
    • (2003) Transfusion , vol.43 , pp. 656-662
    • Hata, Y.1    Kominato, Y.2    Takizawa, H.3    Tabata, S.4
  • 19
    • 33644666696 scopus 로고    scopus 로고
    • A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene
    • This study was built on the notion that ABO gene transcription could start upstream from exon 1 and used expression studies to investigate the GTA potential of enzymes whose translation began at various alternative start codons
    • Seltsam A, Das Gupta C, Bade-Doeding C, et al. A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene. Transfusion 2006; 46:434-440. This study was built on the notion that ABO gene transcription could start upstream from exon 1 and used expression studies to investigate the GTA potential of enzymes whose translation began at various alternative start codons.
    • (2006) Transfusion , vol.46 , pp. 434-440
    • Seltsam, A.1    Das Gupta, C.2    Bade-Doeding, C.3
  • 20
    • 0035020152 scopus 로고    scopus 로고
    • Recombination and gene conversion-like events may contribute to ABO gene diversity causing various phenotypes
    • Ogasawara K, Yabe R, Uchikawa M, et al. Recombination and gene conversion-like events may contribute to ABO gene diversity causing various phenotypes. Immunogenetics 2001; 53:190-199.
    • (2001) Immunogenetics , vol.53 , pp. 190-199
    • Ogasawara, K.1    Yabe, R.2    Uchikawa, M.3
  • 21
    • 15844366741 scopus 로고    scopus 로고
    • Extensive polymorphism of ABO blood group gene: Three major lineages of the alleles for the common ABO phenotypes
    • Ogasawara K, Bannai M, Saitou N, et al. Extensive polymorphism of ABO blood group gene: Three major lineages of the alleles for the common ABO phenotypes. Hum Genet 1996; 97:777-783.
    • (1996) Hum Genet , vol.97 , pp. 777-783
    • Ogasawara, K.1    Bannai, M.2    Saitou, N.3
  • 22
    • 55149083255 scopus 로고    scopus 로고
    • Seo DH, Kim SY, Kim JY, Park et al. Molecular characteristics of A subgroups in Koreans. Korean J Transfus Med 2003; 114:212-222.
    • Seo DH, Kim SY, Kim JY, Park et al. Molecular characteristics of A subgroups in Koreans. Korean J Transfus Med 2003; 114:212-222.
  • 23
    • 27744571116 scopus 로고    scopus 로고
    • The genetic and phenotypic basis of blood group A subtypes in Koreans
    • Cho D, Shin MG, Yazer MH, et al. The genetic and phenotypic basis of blood group A subtypes in Koreans. Transfus Med 2005; 15:329-334.
    • (2005) Transfus Med , vol.15 , pp. 329-334
    • Cho, D.1    Shin, M.G.2    Yazer, M.H.3
  • 25
    • 55149123720 scopus 로고    scopus 로고
    • Pretransplantation confirmatory ABO genotyping reveales a novel nondeletional O allele
    • Storry JR, Carter V, Hellberg Å, et al. Pretransplantation confirmatory ABO genotyping reveales a novel nondeletional O allele. Vox Sang 2008; 95 (Suppl 1):178.
    • (2008) Vox Sang , vol.95 , Issue.SUPPL. 1 , pp. 178
    • Storry, J.R.1    Carter, V.2    Hellberg, A.3
  • 26
    • 34247617415 scopus 로고    scopus 로고
    • Structural basis for red cell phenotypic changes in newly identified, naturally occurring subgroup mutants of the human blood group B glycosyltransferase
    • Hosseini-Maaf B, Letts JA, Persson M, et al. Structural basis for red cell phenotypic changes in newly identified, naturally occurring subgroup mutants of the human blood group B glycosyltransferase. Transfusion 2007; 47:864-875.
    • (2007) Transfusion , vol.47 , pp. 864-875
    • Hosseini-Maaf, B.1    Letts, J.A.2    Persson, M.3
  • 27
    • 0028214553 scopus 로고
    • Hotspots of homologous recombination
    • Smith GR. Hotspots of homologous recombination. Experientia 1994; 50:234-241.
    • (1994) Experientia , vol.50 , pp. 234-241
    • Smith, G.R.1
  • 28
    • 0029168057 scopus 로고
    • Old and new concepts for the role of chi in bacterial recombination
    • Stahl F, Myers R. Old and new concepts for the role of chi in bacterial recombination. J Hered 1995; 86:327-329.
    • (1995) J Hered , vol.86 , pp. 327-329
    • Stahl, F.1    Myers, R.2
  • 29
    • 0029792532 scopus 로고    scopus 로고
    • Gassner C, Schmarda A, Nussbaumer W, et al. ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers. Blood 1996; 88:1852-1856.
    • Gassner C, Schmarda A, Nussbaumer W, et al. ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers. Blood 1996; 88:1852-1856.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.