摘要
目的利用血型血清学方法通过对比分析及家系调查推断罕见CisAB和B(A)血型,为临床快速疑难血型诊断、确保输血治疗安全提供借鉴。方法采用进口全自动血型分析系统及其配套凝胶卡和手工试管法进行血型血清学鉴定、抗人球蛋白和抗体筛查试验,采用聚合酶链反应(PCR)扩增结合基因测序及PCR产物克隆的方法,分析血型异常患者及其近亲属ABO血清型、ABO血型基因第6及7号外显子区和侧翼序列,并与血型血清学表现频率和基因大数据结果进行对比,确定患者及其近亲属的ABO血型和亚型及其基因型和基因变异位点。结果5例研究对象血型血清学鉴定(微柱凝胶卡初筛及试管法复查)均呈正反定型不符,其中对象1~3表现为正定型A_(w)B型、反定型B型,对象4表现为正定型AB_(w)型、反定型A型,对象5表现为正定型AB型、反定型B型,且对象4和对象5来自同一个家系,对象5为对象4之母。各研究对象RhC/D/E血型血清学鉴定结果清晰,对象1间接抗人球试验及不规则抗体筛查呈阳性,对象4不规则抗体筛查呈阴性。结论对象1~3符合B(A)血型、对象4~5符合CisAB血型的血型血清学表现,可以对血型表型做出初步诊断并指导临床输血治疗,同时经过血型基因型验证无误。
Objective To determine the rare ABO blood subgroups rapidly and ensure the blood transfusion safety of five patients by a series of serological tests and family investigation,as their preliminary serological results of ABO blood grouping was inconsistent.Methods ABO blood grouping,antibody screening and Coombs'tests were performed by the routine serological methods,including manual tube and automatic blood group analyzer,which had matched micro-column gel cards from Diagnostic Grifols.Polymerase chain reaction(PCR)was used to amplify the 6 and 7 exons as well as their adjacent intron region of ABO gene.The patients and their relatives'ABO blood group and subgroup were analyzed and identified through the comparison with serological phenotype database of ABO blood group.The products of PCR were sequenced directly,and the gene mutation was identified through the comparison with the Blood Group Antigen Gene Mutation Database.Results Whether micro-column gel cards or manual tube test,the forward and reverse tests of serological grouping were not supported by each other on the five patients'ABO blood grouping.The forward tests of patients No.1~3 showed A_(w)B phenotype and the reverse tests showed B group.No.4 patient was the forward ABw phenotype and the reverse A group,and No.5 patient was the forward normal AB phenotype and the reverse B group,respectively.All of 5 patients'Rh C/D/E blood grouping showed clearly;the IDT test and antibody screening result of patient No.1 was positive,while the antibody screening result of patient No.4 was negative.Conclusion The blood group serological characterization of patient No.1~3 met B(A)blood group,and patient No.4~5 met CisAB blood group.These tests can make a preliminary diagnosis of blood group phenotype,which are verified correctly via blood group genotype.
作者
张若琛
周星
范亮峰
王玲
周皓君
向东
吴江
ZHANG Ruochen;ZHOU Xing;FAN Liangfeng;WANG Ling;ZHOU Haojun;XIANG Dong;WU Jiang(Department of Blood Transfusion,Renji Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Shanghai Blood Center)
出处
《中国输血杂志》
CAS
2022年第9期929-932,共4页
Chinese Journal of Blood Transfusion
基金
上海市公共卫生重点学科建设项目(No.15GWZK0501)。