[1]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(03):173-176,182.[doi:10.3969/j.issn.1671-7414.2025.03.032]
　HONG Yi,ZHANG Liangzi,ZUO Qinqin.Serology Identification and Molecular Mechanism of ABO Blood Group with Weak Expression of Erythrocyte A Antigen Caused by ABO*AW Allele[J].Journal of Modern Laboratory Medicine,2025,40(03):173-176,182.[doi:10.3969/j.issn.1671-7414.2025.03.032]
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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()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年03期
页码:
173-176,182
栏目:
论著
出版日期:
2025-05-15

文章信息/Info

Title:
Serology Identification and Molecular Mechanism of ABO Blood Group with Weak Expression of Erythrocyte A Antigen Caused by ABO*AW Allele
文章编号:
1671-7414（2025）03-173-05
作者:
洪 毅1，张良子2，左琴琴2
（1.西安高新医院输血科，西安 710075；2.陕西省血液中心，西安 710061）
Author(s):
HONG Yi1，ZHANG Liangzi2，ZUO Qinqin2
(1. Department of Blood Transfusion，Xi’an High-Tech Hospital， Xi’an 710075，China；2. Shaanxi Blood Center，Xi’an 710061, China)
关键词:
ABO血型; 表型; 等位基因; 血型血清学; 家系调查
分类号:
R457.11；Q754
DOI:
10.3969/j.issn.1671-7414.2025.03.032
文献标志码:
A
摘要:
目的探讨4例由ABO*AW等位基因导致的ABO正反定型不符样本及家系的血清学和分子生物学特性，研究其遗传方式。方法常规血型血清学方法鉴定样本的ABO血型表型；PCR方法扩增ABO基因7个外显子及其侧翼内含子，对扩增产物进行直接测序和克隆测序进行分析，并对其中1例先证者的亲属进行家系调查。结果先证者1，2，3血型血清学结果为A弱B，存在IgM-A1抗体；先证者4血型血清学结果为A弱B；测序显示：4例先证者基因型分别为ABO*AW.25/B.01，ABO*AW.26/B.01，ABO*AW.37/B.01，ABO*AW.37/B.01。与ABO*A1.01等位基因比对，ABO*AW25存在c.467C>T，c.829G>A和c.1061delG突变位点；ABO*AW26存在c.467C>T，c.527G>A和c.1061delG突变位点；ABO*AW.37存在c.940A>G突变位点。家系调查显示先证者4父亲、母亲、丈夫和儿子血型血清学结果分别为A弱型、B型、A型及A型，其中先证者4父亲及儿子的ABO基因均存在ABO*AW.37等位基因。结论?ABO*A1.01等位基因上点突变产生ABO*AW等位基因，导致红细胞上A抗原的弱表达，且能够稳定遗传突变。
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.

参考文献/References:

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[11] 洪毅. ABO*BEL.11等位基因突变致红细胞B抗原弱表达的家系血型血清学及分子机制研究[J].现代检验医学杂志, 2023, 38(1):161-164. HONG Yi. Serology and molecular mechanism of family blood group with weak expression of erythrocyte B antigen caused by ABO*BEL.11[J]. Journal of Modern Laboratory Medicine, 2023, 38(1): 161-164.
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备注/Memo

备注/Memo:
基金项目：中国输血协会威高科研基金项目（CSBT-WG-2023-02）；陕西省科技计划项目（2024SF-YBXM-150）。
作者简介：洪毅（1975-），男，本科，副主任技师，研究方向：输血管理、输血检验，E-mail：1967113703@qq.com。
通讯作者：左琴琴（1984-），女，硕士，副主任技师，研究方向：红细胞血型基因检测与输血，E-mail：zuoqinqin1011@163.com。
更新日期/Last Update: 2025-05-15