Journal of Diagnostics Concepts & Practice ›› 2018, Vol. 17 ›› Issue (02): 155-158.doi: 10.16150/j.1671-2870.2018.02.007

• Original articles • Previous Articles     Next Articles

AxB blood group phenotype caused by ABO gene c.2T>C mutation and GTA aberrant translation

KONG Cunquan1,2, HE Yi3,*, LIAN Lixia1, XU Shen2, WANG Xuefeng2, ZOU Wei2, CAI Xiaohong2   

  1. 1. Blood of Transfusion, The People's Hospital of Henan Province, Henan Zhengzhou, 450003, China;
    2. Blood of Transfusion, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China;
    3. Blood of Transfusion, Sichuan Academy of Medical Sciences Sichuan Provincial People 's Hospital, Sichuan Chengdu 610072, China
  • Received:2017-12-18 Online:2018-04-25 Published:2018-04-25

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Abstract: Objective: To identify ABO blood group of an ABO discrepancy sample and explore the underlying molecular mechanism. Methods: Serological ABO blood group typing including total plasma GTA transfer capacity was performed. ABO gene was analyzed by PCR amplification and direct sequencing or sequencing after cloning of 7 exons and their flanking regions. Results: AxB subgroup was serologically identified in this subject. Plasma total GTA transfer capacity was remarkably reduced in this subject（titer±）. A single mutation T>C was identified at the +2 position of exon 1 of an ABO*A101 allele. Conclusions: ABO gene c.2T>C mutation may cause AxB subgroup by affecting the initial translation start site or replacing it by Met in the transmembrane domain or stem region.

Key words: ABO subgroup, Start codon, Missense mutation

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