福建莆田地区无偿献血者ABO疑难血型的血清学与分子生物学研究  

ABO ambiguous blood types in voluntary blood donors from Putian,Fujian Province:a serology and molecular biology study

作　　者：林铁辉 郑雪玲 蔡晓红[2] 雷航[2] LIN Tiehui;ZHENG Xueling;CAI Xiaohong;LEI Hang(Putian Central Blood Station,Putian 35100,China;Department of Blood Transfusion,Ruijin Hospital,Shanghai Jiaotong University School of Medicine)

机构地区：[1]莆田市中心血站,福建莆田351100 [2]上海交通大学医学院附属瑞金医院输血科

出　　处：《中国输血杂志》2024年第6期654-659,共6页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金青年项目(82000183)。

摘　　要：目的探讨莆田市无偿献血人群疑难血型血清学及分子生物学特征,并对相关献血者建档,以备自身输血或者助人应急献血。方法收集莆田市中心血站2019年1月1日—2023年8月31日期间68593名无偿献血者的血液标本,采用血清学方法进行血型鉴定;对疑难血型标本进行ABO基因(包含启动子、增强子和7个外显子以及其侧翼序列和内含子6)以及FUT1基因检测;运用Chimira和PyMOL软件建立3D模型,预测基因突变对酶结构的影响。结果血清学共检出16例ABO亚型,其中检出率最高的表型为类孟买型(0.73/万),其次为cisAB型(0.44/万);基因分析共检出12例含有已知突变的标本(FUT1.01N.06/FUT1.01N.064例,FUT101W.08/FUT1.01N.061例,A2.08/B.012例,BA.02/O.01.011例,A3.07/O.01.011例,cisAB.01/B.013例),4例未找到关键突变(A1.02/B.012例,A1.02/O.01.022例)。3D分子模型分析发现,A3.07等位基因和FUT1.01W.08等位基因均能导致相应糖基转移酶活性降低,导致亚型的出现。结论福建莆田地区无偿献血者最常见的引起ABO正反不符的表型为类孟买型,其最常见等位基因为FUT1.01N.06。Objective To investigate the serological and molecular biology characteristics of ambiguous blood types among voluntary blood donors in Putian,and to file records for relevant donors for future reference in case of their own transfusion needs or emergency donations to others.Methods A total of 68593 blood samples from voluntary blood donors in Putian Central Blood Station between January 1,2019 and August 31,2023 were collected and tested for blood types using serological methods.ABO gene(including promoters,enhancers and seven exons as well as their flanking sequences and intron 6)and FUT1 gene testing were performed on ambiguous blood types.3D models were constructed using Chimira and PyMOL software to predict the impact of gene mutations on enzyme structure.Results A total of 16 ABO subtypes were identified by serological methods,with the highest detection rate as the para-Bombay phenotype(0.73 per 10000),followed by the cisAB phenotype(0.44 per 10000).Gene analysis revealed 12 cases with known mutations(4 cases of FUT1.01N.06/FUT1.01N.06,1 case of FUT101W.08/FUT1.01N.06,2 cases of A2.08/B.01,1 case of BA.02/O.01.01,1 case of A3.07/O.01.01,3 cases of cisAB.01/B.01),and key mutations were not found in 4 cases(2 cases of A1.02/B.01,2 cases of A1.02/O.01.02).3D molecular model analysis revealed that both A3.07 and FUT1.01W.08 allele can lead to a decrease in activity of the corresponding glycosyltransferases,resulting in the emergence of subtypes.Conclusion The most common phenotype causing discrepancies in ABO blood type testing among voluntary blood donors from Putian is the para-Bombay phenotype,with the most common allele being FUT1.01N.06.

关 键 词：亚型 输血安全 基因测序 

分 类 号：R392.7[医药卫生—免疫学] R457.1[医药卫生—基础医学]