Journal of the Formosan Medical Association
Volume 106, Issue 11 , Pages 969-974, November 2007

A Novel Ael Allele Derived from a Unique 816insG in Exon 7 of the ABO Gene

  • Hsueng-Mei Liu

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • ,
  • Ying-Ju Chen

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • ,
  • Pei-Shan Chen

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • ,
  • Jau-Yi Lyou

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • ,
  • Hui-Yu Hu

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • ,
  • Yung-Tai Ho

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • ,
  • Jeong-Shi Lin

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • National Yang-Ming University College of Medicine, Taipei, Taiwan
    • ,
  • Cheng-Hwai Tzeng

      Affiliations

    • Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
    • National Yang-Ming University College of Medicine, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Cheng-Hwai Tzeng, Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, 201 Shih-Pai Road, Section 2, Taipei 112, Taiwan

Received 22 January 2007; received in revised form 15 February 2007; accepted 10 April 2007.

Article Outline

The ABO blood group system is the most important blood group system in transfusion medicine. In addition to the major A, B and O alleles, many rare alleles with weak expression of the A or B antigens on RBCs have been defined. We report here the molecular analysis of a novel Ael allele. Exons 6 and 7 of the ABO gene were PCR-amplified, cloned and sequenced for the propositus, Mr C, who is a 56-year-old Taiwanese male and was incidentally observed to have an Ael phenotype. His direct family members including wife, son and daughter were subsequently enrolled for further study. Three hundred random blood donors of AB phenotype served as control. A novel Ael allele was uncovered from the propositus and his daughter, of which a unique 816insG mutation occurred on the A102 background that results in a frame shift leading to a 37-amino acid longer polypeptide than the normal A1 transferase, a finding similar to that of Ael01 allele with 804insG. We found that the C family carried a novel Ael allele that differs molecularly from seven Ael alleles reported in the literature.

Key Words:  ABO gene , molecular genetic analysis , novel Ael allele

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References 

  1. Landsteiner K . Agglutination phenomena of normal human blood . Wien Klin Wochenschr . 1901;113:768–769
  2. Yamamoto F , Clausen H , White T , et al.   Molecular genetic basis of the histo-blood group ABO system . Nature . 1990;345:229–233
  3. Yamamoto F , McNeill PD , Hakomori S . Genomic organization of human histo-blood group ABO genes . Glycobiology . 1995;5:51–58
  4. Bennett EP , Steffensen R , Clausen H , et al.   Genomic cloning of the human histo-blood group ABO locus . Biochem Biophys Res Comm . 1995;206:318–325
  5. Yamamoto F , Marken J , Tsuji T , et al.   Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc α1→2 Gal α1→3 GalNAc transferase (histo-blood group A transferase) mRNA . J Biol Chem . 1990;265:1146–1151
  6. Yamamoto F , Hakomori S . Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions . J Biol Chem . 1990;265:19257–19262
  7. Ogasawara K , Yabe R , Uchikawa M , et al.   Molecular genetic analysis of variant phenotypes of the ABO blood group system . Blood . 1996;88:2732–2737
  8. Yu LC , Lee HL , Chan YS , et al.   The molecular basis for the B(A) allele: an amino acid alteration in the human histo-blood group B-alpha-(1,3)-galactosyl-transferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyl-transferase activity . Biochem Biophys Res Commun . 1999;262:487–493
  9. Olsson ML , Irshaid NM , Hosseini-Maaf B , et al.   Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles . Blood . 2001;98:1585–1593
  10. Yip SP . Sequence variation at the human ABO locus . Ann Hum Genet . 2002;66:1–27
  11. Seltsam A , Hallensleben M , Kollmann A , et al.   The nature of diversity and diversification at the ABO locus . Blood . 2003;102:3035–3042
  12. Tzeng CH , Chen YR , Lyou JY , et al.   A novel cis-AB allele derived from a unique 796C >A mutation in exon 7 of ABO gene . Transfusion . 2005;45:50–55
  13. Chen YR , Lyou JY , Chen PS , et al.   Novel polymorphisms in exons 6 and 7 of A/B alleles detected by polymerase chain reaction-single strand conformation polymorphism . Vox Sang . 2006;90:119–127
  14. Olsson ML , Thuresson B , Chester MA . An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction . Biochem Biophys Res Commun . 1995;216:642–647
  15. Seltsam A , Hallensleben M , Kollmann A , et al.   Systematic analysis of the ABO gene diversity within exons 6 and 7 by PCR screening reveals new ABO alleles . Transfusion . 2003;43:428–439
  16. Sun CF , Yu LC , Chen DP , et al.   Molecular genetic analysis for the Ael and A3 alleles . Transfusion . 2003;43:1138–1144
  17. Wu GG , Yu QY , Su YQ , et al.   Novel ABO blood group allele with a 767T > C substitution in three generations of a Chinese family . Transfusion . 2005;45:645–646
  18. Yu Q , Deng ZH , Wu GG , et al.   Molecular genetic analysis for a novel Ael allele of the ABO blood group system . J Hum Genet . 2005;50:671–673
  19. Sun CF , Chen DP , Tseng CP , et al.   Identification of a novel A1v-O1v hybrid allele with G829A mutation in a chimeric individual of AelBel phenotype . Transfusion . 2006;46:780–789
  20. Tzeng CH , Lyou JY , Chen YR , et al.   Determination of sib-ship by polymerase chain reaction-amplified short tandem repeat analysis in Taiwan . Transfusion . 2000;40:840–845
  21. Okiura T , Fukumori Y , Nishimura K , et al.   A-elute alleles of the ABO blood group system in Japanese . Legal Medicine . 2003;5:S207–S209
  22. 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
  23. Ball EV , Stenson PD , Abeysinghe SS , et al.   Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity . Human Mutation . 2005;26:205–213

PII: S0929-6646(08)60070-4

doi:10.1016/S0929-6646(08)60070-4

Journal of the Formosan Medical Association
Volume 106, Issue 11 , Pages 969-974, November 2007

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