中国输血杂志2025，Vol.38Issue(5)：717-722,6.DOI:10.13303/j.cjbt.issn.1004-549x.2025.05.019
ABO血型B抗原表达减弱家系标本的血型基因分析
Genetic analysis of cases from a family with reduced B antigen expression in ABO blood group system
摘要
Abstract
Objective To classify the ABO blood group phenotypes of 5 cases from a family,and to explore the molecu-lar 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 antibod-y.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 B3 phenotype.The novel mutation c.28+5875C>T of RUNX1 could be the key reason for reduced B antigen expression in 3 cases with B3 phenotype.关键词
ABO血型/抗原表达/血清学分析/基因测序Key words
ABO blood group/antigens expression/serological test/gene sequencing分类
医药卫生引用本文复制引用
周太梅,杨迎春,赵子豪,徐卫珍,简子善,杨通平..ABO血型B抗原表达减弱家系标本的血型基因分析[J].中国输血杂志,2025,38(5):717-722,6.基金项目
湖南省自然科学基金区域联合基金项目(2024JJ7328) （2024JJ7328）
