Genetic analysis of cases from a family with reduced B antigen expression in ABO blood group system
10.13303/j.cjbt.issn.1004-549x.2025.05.019
- VernacularTitle:ABO血型B抗原表达减弱家系标本的血型基因分析
- Author:
Taimei ZHOU
1
;
Yingchun YANG
2
;
Zihao ZHAO
1
;
Weizhen XU
2
;
Zishan JIAN
1
;
Tongping YANG
1
Author Information
1. School of Laboratory Medicine, Hunan University of Medicine, Huaihua 418000, China
2. Department of Clinical Laboratory, Jingzhou Miao and Dong Autonomous County People's Hospital, Jingzhou 418400, China
- Publication Type:Journal Article
- Keywords:
ABO blood group;
antigens expression;
serological test;
gene sequencing
- From:
Chinese Journal of Blood Transfusion
2025;38(5):717-722
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To classify the ABO blood group phenotypes of 5 cases from a family, and to explore the molecular mechanism for reduced B antigen expression in ABO blood group system. Methods: Serological identification of the ABO blood group was performed using microcolumn gel assay and saline tube method. The soluble antigens in saliva were detected by the agglutination inhibition assay. The full-length sequences and upstream promoter regions of ABO gene were sequenced for genotyping using PacBio SMRT sequencing technology. Results: The results of serological tests indicated the expression of B antigen decreased in 3 out of 5 blood samples. A mixed-field agglutination was observed with anti-B antibody. B antigen was not detected in all 5 saliva samples. The ABO genotype for all samples were ABO
B.01/ABO
O.01.02, and a novel mutation c. 28+5875C>T within the DNA-binding region of RUNX1 in +5.8-kb site were found in the B allele for 3 samples with reduced expression of B antigen. Conclusion: Results of serological and genetic analyses classify the 3 cases with reduced B antigen expression as B
phenotype. The novel mutation c. 28+5875C>T of RUNX1 could be the key reason for reduced B antigen expression in 3 cases with B
phenotype.
