诊断学理论与实践

诊断学理论与实践 ›› 2018, Vol. 17 ›› Issue (02): 155-158.doi: 10.16150/j.1671-2870.2018.02.007

• 论著 • 上一篇    下一篇

ABO基因c.2T>C突变致GTA翻译异常引起的AxB表型一例及机制分析

孔存权1,2, 何屹3,*, 连利霞1, 徐申2, 王学锋2, 邹纬2, 蔡晓红2   

  1. 1.河南省人民医院（郑州大学人民医院）输血科,河南 郑州 450003;
    2.上海交通大学医学院附属瑞金医院输血科,上海 200025;
    3.四川省医科院 四川省人民医院输血科,四川 成都 610072
  • 收稿日期:2017-12-18 出版日期:2018-04-25 发布日期:2018-04-25
  • 通讯作者: 蔡晓红 E-mail: cxh8407@shsmu.edu.cn;邹纬 E-mail: zouwei1998@sina.com
  • 作者简介:*：共同第一作者
  • 基金资助:
    2014上海交通大学晨星学者计划; 上海市自然科学基金（17ZR1417000）; 上海市公共卫生重点学科建设项目(15GWZK0501)

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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摘要： 目的：对1例ABO正反定型不一致患者的血标本进行鉴定,并探索其潜在的分子机制。方法：血清学标准方法鉴定ABO血型,并进行血浆总体A糖基转移酶（glucanotransferase,GTA）活性测定。对ABO基因7个外显子及其侧翼序列行PCR扩增、直接测序或克隆后测序分析。结果：本例血清学鉴定为AxB亚型;血浆总体GTA活性明显下降（效价为±）;ABO基因外显子1的第2位核苷酸存在T>C错义突变。结论：ABO基因c.2T>C突变导致翻译起始位点被跨膜结构域或茎区域中的Met替代,从而形成N端截短的GTA的表达,进而引起此例患者AxB表型。

关键词: ABO亚型, 启始密码子, 错义突变

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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