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

doi:10.3969/j.issn.1671-2587.2025.06.013

JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE ›› 2025, Vol. 27 ›› Issue (6): 830-834.DOI: 10.3969/j.issn.1671-2587.2025.06.013

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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 Published:2025-12-24

Abstract

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

CLC Number:

R394.3

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

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