Journal of Diagnostics Concepts & Practice >

2018 , Vol. 17 >Issue 02: 155 - 158

DOI: https://doi.org/10.16150/j.1671-2870.2018.02.007

Original articles

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

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  • 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 date: 2017-12-18

  Online 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

Cite this article

KONG Cunquan, HE Yi, LIAN Lixia, XU Shen, WANG Xuefeng, ZOU Wei, CAI Xiaohong . AxB blood group phenotype caused by ABO gene c.2T>C mutation and GTA aberrant translation[J]. Journal of Diagnostics Concepts & Practice, 2018 , 17(02) : 155 -158 . DOI: 10.16150/j.1671-2870.2018.02.007

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