诊断学理论与实践

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

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

论著

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

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  • 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
*：共同第一作者

收稿日期: 2017-12-18

  网络出版日期: 2018-04-25

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)

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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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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

本文引用格式

孔存权, 何屹, 连利霞, 徐申, 王学锋, 邹纬, 蔡晓红 . 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[J]. 诊断学理论与实践, 2018 , 17(02) : 155 -158 . DOI: 10.16150/j.1671-2870.2018.02.007

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

参考文献

[1] Storry JR, Condon J, Hult AK, et al.An age-dependent ABO discrepancy between mother and baby reveals a novel A(weak) allele[J]. Transfusion, 2015,55(2):422-426.
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[3] Hata Y, Kominato Y, Takizawa H, et al.Transcription starting from an alternative promoter leads to the expression of the human ABO histo-blood group antigen[J]. Transfusion,2003,43(5):656-662.
[4] Cai XH, Jin S, Liu X, et al.Molecular genetic analysis for the B subgroup revealing two novel alleles in the ABO gene[J]. Transfusion,2008,48(11):2442-2447.
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[6] 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[J]. Transfusion,2006,46(3):434-440.
[7] Kozak M.Interpreting cDNA sequences: some insights from studies on translation[J]. Mamm Genome,1996,7(8):563-574.
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