现代检验医学杂志2025，Vol.40Issue(3)：173-176,182,5.DOI:10.3969/j.issn.1671-7414.2025.03.032
ABO*AW等位基因突变致红细胞A抗原弱表达的血型血清学鉴定及分子机制研究
Serology Identification and Molecular Mechanism of ABO Blood Group with Weak Expression of Erythrocyte A Antigen Caused by ABO*AW Allele
摘要
Abstract
Objective To investigate the serological and molecular biological characteristics of 4 samples and family with ABO positive and negative stereotypes caused by ABO*AW and to study its inheritance mode.Methods The ABO blood group phenotype of the samples was identified by conventional blood group serology and absorption-elution test.The seven exons and their flanking introns of the ABO gene were amplified by PCR,and the amplified products were analyzed by direct sequencing and cloning sequencing.A pedigree investigation was carried out on the relatives of the proband.Results The blood group serology of the proband 1,2,3 were AweakB,with IgM-A1 antibody.The blood group serology of the proband 4 was AweakB.Sequencing.The genotypes of the four probands were as follows:ABO*AW.25/B.01,ABO*AW.26/B.01,ABO*AW.37/B.01,ABO*AW.37/B.01.Compared with the ABO*A1.01,ABO*AW25 exhibits c.467C>T,c.829G>A and c.1061del G mutation sites.ABO*AW.26 has c.467C>T,c.527G>A and c.1061del G mutation sites.ABO*AW.37 has a c.940A>G mutation site.The pedigree investigation showed that the blood group serological results of the 4th proband's father,mother,husband and son were Aweak,B,A and A,the ABO*AW.37 allele existed in the ABO gene of the 4th proband's father and son.Conclusion The point mutation on the ABO*A1.01 can generate the ABO*AW,resulting in weak expression of a antigen on erythrocytes,and it can descend stably.关键词
ABO血型/表型/等位基因/血型血清学/家系调查Key words
ABO blood group/phenotype/allele/blood group serology/pedigree investigation分类
医药卫生引用本文复制引用
洪毅,张良子,左琴琴..ABO*AW等位基因突变致红细胞A抗原弱表达的血型血清学鉴定及分子机制研究[J].现代检验医学杂志,2025,40(3):173-176,182,5.基金项目
中国输血协会威高科研基金项目(CSBT-WG-2023-02) （CSBT-WG-2023-02）
陕西省科技计划项目(2024SF-YBXM-150). （2024SF-YBXM-150）
