4例A抗原表达减弱样本的血清学特点及基因序列分析  

Serological and Gene Sequence Analysis of Weakened A Antigen in Four Cases

作　　者：田稳[1] 徐宁[1] 吴天鸽 史鸣昊 李峣 裴笑仙 于娜[1] TIAN Wen;XU Ning;WU Tiange;SHI Minghao;LI Yao;PEI Xiaoxian;YU Na(Blood Transfusion Department,The Second Hospital of Jilin University,Changchun 130022)

机构地区：[1]吉林大学第二医院输血科,吉林长春130022

出　　处：《临床输血与检验》2025年第2期186-191,共6页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：吉林省科技发展计划项目(No.20240401068YY);中国高校产学研创新基金(No.2023JQ011)资助。

摘　　要：目的对4例ABO血型正、反定型不符的样本进行血清学检测和基因序列分析,为患者的血型做出准确判断。方法血清学方法检测疑似A亚型的样本,对样本基因序列进行Sanger双向测序,软件分析对比,应用血清学联合基因检测分析基因型和表型。结果4例样本中2例基因序列分别与ABO*AEL.08/ABO*O.01.01和ABO*AEL.03/ABO*B.02相符,表型为Ael型;1例基因序列符合ABO*AW.37/ABO*B.01,表型为A_(weak)B型;1例在外显子6上发生287G>T杂合突变,在ISBT数据库中未检索到此突变,怀疑是发生在ABO*A1.02链上新的突变位点。结论血清学联合分子生物学检测可对正、反定型不符的样本做出进一步判断,从而保障临床患者输血安全、有效。本文所总结的A抗原表达减弱样本的血清学特点和基因序列分析结果可为A亚型的鉴定提供数据支持。Objective Serological and gene sequencing methods were performed on 4 samples with the ABO discrepancy to accurately determine blood type.Methods Samples suspected of subtype A detected by serological testing were subjected to Sanger bidirectional sequencing,and the genotypes and phenotypes were analyzed via software-assisted analysis and comparison.Results The gene sequence of two out of four samples was consistent with ABO*AEL.08/ABO*O.01.01 and ABO*AEL.03/ABO*B.02,respectively,both exhibiting the Ael phenotype.One sample was identified as ABO*AW.37/ABO*B.01,corresponding to the A_(weak)B type.A heterozygous mutation of 287G>T was detected in exon 6 in one case.This mutation is not documented in the ISBT database and is suspected to represent a novel mutation site on the ABO*A1.02 allele.Conclusion Serology in conjunction with molecular biological detection can facilitate a more accurate assessment of samples that exhibit ABO discrepancy to ensure the safety and efficacy of blood transfusions.The serological characteristics and gene sequence analysis of samples with diminished A antigen expression,can provide valuable data support for the identification of subtype A.

关 键 词：弱A抗原 A亚型 基因位点突变 分子测序 

分 类 号：R446.11[医药卫生—诊断学] Q78[医药卫生—临床医学]