3例B亚型标本的血清学表型和基因型结果分析  

Study on Serological and Molecular Biological Characteristics of 3 Cases with B Subtype

作　　者：孙嘉峰[1] 杨晓俊 张爱[3] 蔡鹏威[1] 陈发文 SUN Jia-feng;YANG Xiao-jun;ZHANG Ai(Department of Clinical Laboratory,Fujian Provincial Hospital South Branch,Fuzhou 350008)

机构地区：[1]福建省立医院南院检验科,350008 [2]福建医科大学省立临床医学院 [3]福建省血液中心检验科

出　　处：《临床输血与检验》2020年第5期506-509,共4页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：福建省卫生健康中青年骨干人才培养项目(No.2019-ZQN-32);福建医科大学起航基金一般项目(No.2018QH1119)资助。

摘　　要：目的分析3例ABO血型B亚型标本的血清学和分子生物学特征,并探索准确鉴定ABO亚型的方法。方法采用常规血型血清学方法分析3例标本ABO表型,通过对ABO基因第6、第7外显子和第3内含子直接测序确定其基因型。结果3例标本血清学表型分别为B3、Bχ、Bel。样本1在第3内含子存在5 G>A杂合突变,样本2、3分别在第7外显子存在541 C>T、502 C>T杂合突变,其基因型分别为B303/O02、Bx03/O01、Bel03/O02。结论血清学实验结合分子生物学方法可准确鉴定ABO亚型,分子生物学方法还有助于探索ABO亚型的形成机制。Objective To explore the accurate identification method of ABO subtypes,we analysed the serological and molecular biological features of three samples with B subtpye of the ABO blood group.Methods ABO phenotype of three samples were detected using traditional serological methods.The genotypes of Three samples were confirmed by DNA sequencing for exon 6,exon 7 and intron 3 at ABO locus.Results The serological phenotype of three samples were identified as B3,B3 and Bel.The genotype of sample 1 was identified as B303/O02 which with 5G>A mutation in intron 3.The genotypes of sample 2 and sample 3 were identified as Bx03/O01 which with 541 C>T mutation in exon 7 and Bel03/O02 which with 502 C>T mutation in exon 7,respectively.Conclusion ABO subtype can be accurately identified by combining serological and molecular biological method,and molecular biological methods are helpful to explore the mechanism of how ABO subtpyes generate.

关 键 词：ABO亚型 血清学实验 分子生物学 DNA测序 

分 类 号：R457.11[医药卫生—治疗学]