ABO血型变异的分子基础研究  

Molecular mechanism of ABO bood group variation

作　　者：雷航[1] 王学锋[1] 程晓文 张慧[2] 蔡晓红[1] LEI Hang;WANG Xuefeng;CHENG Xiaowen;ZHANG Hui;CAI Xiaohong(Department of Blood Transfusion,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Blood Transfusion,Minhang Hospital,Fudan University)

机构地区：[1]上海交通大学医学院附属瑞金医院输血科,上海200025 [2]复旦大学附属闵行医院输血科

出　　处：《中国输血杂志》2024年第4期385-391,共7页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金青年项目(82000183);上海市闵行区自然科学研究课题(2023MHZ023);上海市闵行区卫生健康系统优秀青年医技人才(mwyjyx09)。

摘　　要：目的 对临床ABO血型变异标本进行ABO亚型、类孟买血型与基因型关联性研究,以探讨这2种血型产生的可能分子背景,为ABO血型的准确鉴定与预判提供精确的基因检测靶点和理论依据。方法 对2022年2—12月瑞金医院2.42万名血型鉴定患者,以及期间来自外院送检10例ABO疑难标本(疑似ABO亚型3例,疑似类孟买血型7例)进行血清学分析,对血清学鉴定为ABO亚型、类孟买血型的行DNA直接测序或克隆后测序分析ABO、FUT1、FUT2基因序列。结果 在共计2.42万血型鉴定患者中检出7例ABO亚型;外院送检的10例疑难标本检出2例ABO亚型、1例正常A型、7例类孟买血型。我们共鉴定出:1)9例ABO亚型,表型及其对应基因型分别为:1例A_(el)(AEL.02/O.01.02)、1例A_(el)B(AEL.05/B.01)、3例B_(3)(2例B3.03/O.01.01、1例B3.03/O.01.02)、1例B(A)(BA.02/O.01.01)、1例AB_(weak)(A1.02/BW.07)、1例B_(weak)(BW.31/O.01.02)、1例A_(2)B_(weak)(A2.05/BW.31);2)7例类孟买血型,表型及其对应基因型分别为:1例AB_(m)^(h)(FUT1^(*)01N.13/FUT1^(*)01N.13)、4例A_(m)^(h)(3例FUT1^(*)01N.06/FUT1^(*)01N.13、1例FUT1^(*)01N.13/FUT1^(*)01N.13)、2例B_(m)^(h)(FUT1^(*)01N.06/FUT1^(*)01N.06、FUT1^(*)01N.06/FUT1^(*)01N.13),7例类孟买的FUT2基因型均为FUT2^(*)01/FUT2^(*)01。结论 ABO血型变异标本需联合血清学与分子生物学方法进行鉴定,方能提高对血型变异标本的鉴定准确率,从而为临床安全输血、器官移植、胎母免疫性溶血病的预测与防治提供参考。Objective To study the relationship between ABO subtype,para-Bombay blood group and genotype,so as to explore the possible molecular mechanism of these two blood groups,and provide accurate genetic detection targets and theoretical basis for the accurate identification of ABO blood group.Methods First,the serology of 24200 patients with blood type identification in the Ruijin Hospital from February to December in 2022 were analyzed,as well as 10 ambiguous ABO samples from other hospitals(3 were suspected ABO subtype and 7 were suspected para-Bombay blood group).Then ABO subtypes and para-Bombay blood groups were directly sequenced or post-clonal sequencing was performed to analyze ABO,FUT1 and FUT2 gene sequences.Results Among the 24200 patients underwent blood type identification,7 cases of ABO subtypes were detected.Among the 10 ambiguous samples sent by other hospitals,2 of ABO subtypes,1 of normal type A,and 7 of para-Bombay blood type were detected.In total,we identified blood types as follows:1)9 ABO subtypes:A el(AEL.02/O.01.02),A el B(AEL.05/B.01),three of B_(3)(2 of B3.03/O.01.01,1 of B3.03/O.01.02),B(A)(BA.02/O.01.01),AB weak(A1.02/BW.07),B weak(BW.31/O.01.02),A_(2) B weak(A2.05/BW.31);2)7 para-Bombay blood group:AB_(m)^(h)(FUT1^(*)01N.13/FUT1^(*)01N.13),4 of A_(m)^(h)(3 of FUT1^(*)01N.06/FUT1^(*)01N.13,1 of FUT1^(*)01N.13/FUT1^(*)01N.13);two of B_(m)^(h)(FUT1^(*)01N.06/FUT1^(*)01N.06,FUT1^(*)01N.06/FUT1^(*)01N.13),all of FUT2 of the 7 cases were FUT2^(*)01/FUT2^(*)01.Conclusion Clinical ABO blood group variant samples need to be identified in combination with serological and molecular biology to improve the accuracy of identification,thus providing a reference for safe blood transfusion,organ transplantation,and the prediction and prevention of fetal-maternal immune hemolytic disease.

关 键 词：ABO亚型 类孟买血型 基因突变 分子机制 

分 类 号：R457.11[医药卫生—治疗学]