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临床输血与检验

临床输血与检验 ›› 2016, Vol. 18 ›› Issue (5): 424-427.DOI: 10.3969/j.issn.1671-2587.2016.05.005

• 血型研究 • 上一篇    下一篇

ABO亚型B(A)04的鉴定及分子机制研究*

方乐, 肖建宇, 吴敏慧, 叶燕, 黄成垠, 陈青   

  1. 710065 西安,陕西省兵器工业卫生研究所五二一医院（方乐）; 江苏省血液中心（肖建宇,吴敏慧, 叶燕,黄成垠,陈青）
  • 收稿日期:2016-07-13 出版日期:2016-10-20 发布日期:2017-05-19
  • 通讯作者: 陈青,研究员,博士,（E-mail）chenqing90@yahoo.com。
  • 作者简介:方乐（1984-）,男,陕西西安人,主管技师,硕士,主要从事临床输血工作,（Tel）15029217075（E-mail）289278162@qq.com。
  • 基金资助:
    *本课题受江苏省重点研发计划社会发展项目（No; BE2015717),江苏省“十二五”期间“科教兴卫工程”医学重点人才（No; RC2011088),江苏省第四期“333高层次人才培养工程”,江苏省第十批“六大人才高峰”项目（No.2013-WSW-039）,2010、2014年度江苏省卫生国际交流支撑计划项目资助

Identification of Serologic and Molecular Bases of B(A)04 Subtype of ABO Blood Group

FANG Le, XIAO Jian-yu, WU Min-hui, et al   

  1. Department of Blood Transfusion,521 Hospital of Ordnance Industry, Xi'an, 710065
  • Received:2016-07-13 Online:2016-10-20 Published:2017-05-19

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摘要： 目的 研究B(A)04血型的特性,为B(A)04血型的临床输血提供理论基础。方法 应用血型血清学技术和基因分型技术鉴定B(A)04血型的特性,采用PCR方法扩增其ABO基因7个外显子、侧翼内含子,PCR 产物采用直接测序和克隆测序方法,以确定B(A)血型的分子机制。结果 血型血清学有相应的反应格局,患者正定型: A弱B,反定型: A1c 2+,Bc阴性,ABO基因测序发现第7外显子640位碱基发生A>G突变,导致214位蛋氨酸被缬氨酸替换,ABO血型基因型为ABO* B(A)04/O01。结论 亚型或稀有血型的鉴定分析要慎重,必要时应用血型基因分型技术辅助定型,保障输血安全。

关键词: ABO血型, B(A)亚型, ABO基因, ABO基因分型

Abstract: Objective To investigate the characters of B(A)04 subtype in order to provide a theoretical basis for the work of clinical blood transfusion. Methods The characteristics of B(A)04 subtype were identified by serological and genotyping technology. Exons 1-7 and adjacent introns of the ABO gene were amplified by polymerase chain reaction (PCR). The PCR products were directly sequenced and cloning sequenced to identify the molecular mechanism of B(A)04 subtype. Results The patient showed ABO forward and reverse typing discrepancy. ABO forward typing defined A weak B. However, A1 cells (2+) and B cells (-) were observed in the reverse typing. The ABO gene sequencing showed a A>G substitution at position in exon 7 which caused a Met to Val exchange at codon 214. The ABO blood group genotype was ABO*B(A)04/O01. Conclusion The identification and analysis of subordinate or rare blood types should be very careful. In order to ensure the safety of blood transfusion, the molecular biological detection should carried out when necessary.

Key words: ABO blood group, B(A) subgroup, ABO gene, ABO genotype

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