ABO基因RUNX1转录调控区突变致B抗原弱表达的鉴定和分析*

doi:10.3969/j.issn.1671-2587.2025.06.013

临床输血与检验 ›› 2025, Vol. 27 ›› Issue (6): 830-834.DOI: 10.3969/j.issn.1671-2587.2025.06.013

ABO基因RUNX1转录调控区突变致B抗原弱表达的鉴定和分析^*

刘建成, 海静

宁夏血液中心,宁夏银川 750011

收稿日期:2025-06-13 出版日期:2025-12-20 发布日期:2025-12-24
作者简介:刘建成,主要从事输血免疫学和血型分子遗传学研究,E-mail：ljc2060@163.com。
基金资助:
^*本课题受宁夏卫生健康系统科研课题（No.2022-NWKY-040）资助

Identification and Analysis of RUNX1 Transcriptional Regulatory Region Mutation in the ABO Gene Causing Weak Expression of B Antigen

LIU Jiancheng, HAI Jing

Ningxia Blood Center, Blood Group Reference Laboratory, Ningxia Yinchuan 750011

Received:2025-06-13 Online:2025-12-20 Published:2025-12-24

摘要/Abstract

摘要： 目的对7例ABO亚型进行精准鉴定,探讨血型抗原弱表达分子机制。方法采用血清学方法对2023年1月—2024年12月无偿献血的样本进行ABO血型检测,针对正反定型不相符的7例样本利用三代单分子测序技术进行分析。结果 7例样本中6例表型为AB₃亚型,基因分型为ABO*A1.02/ABO*B.var（c.28+5885C>T）。1例表型为B_weak亚型。基因分型为ABO*B.var/ABO*O.01.02（c.28+5875C>T）。结论 7例亚型样本测序显示均在RUNX1转录调控蛋白结合区域发生了点突变,为抗原表达减弱研究提供了分子基础。

关键词: 转录因子RUNX1, ABO基因, 转录调控, ABO血型

Abstract: Objective To investigate the molecular mechanisms of weak antigen expression by genetic blood typing. Methods We performed serological investigations in voluntary blood donation samples collected between January 2023 and December 2024. Third-generation single-molecule sequencing technology was employed in 7 samples with discrepant results in forward and reverse ABO phenotyping. Results Six cases serologically defined as AB₃ were found to be associated with ABO*A1.02/ABO*B.var (c.28+5885C>T), and one case defined as B_weak with ABO*B.var/ABO*O.01.02 (c.28+5875C>T). Conclusion Sequencing revealed that point mutations occurred in the binding region of the RUNX1 transcriptional regulatory protein in 7 cases, providing a molecular basis for the study of weakened antigen expression.

Key words: Transcription factor RUNX1, ABO Gene, Transcriptional regulation, ABO blood group

中图分类号:

R394.3

刘建成, 海静. ABO基因RUNX1转录调控区突变致B抗原弱表达的鉴定和分析^*[J]. 临床输血与检验, 2025, 27(6): 830-834.

LIU Jiancheng, HAI Jing. Identification and Analysis of RUNX1 Transcriptional Regulatory Region Mutation in the ABO Gene Causing Weak Expression of B Antigen[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2025, 27(6): 830-834.

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ABO基因RUNX1转录调控区突变致B抗原弱表达的鉴定和分析^*

Identification and Analysis of RUNX1 Transcriptional Regulatory Region Mutation in the ABO Gene Causing Weak Expression of B Antigen

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