1例B3亚型的血清学和分子生物学分析  

Serological and molecular biological analysis of a B3 subtype

作　　者：黄颖[1] 蔡学娇 HUANG Ying;CAI Xue-jiao(The Second Affiliated Hospital and Yuying Childrens Hospital of Wenzhou Medical University,the First Affiliated Hospital of Wenzhou Medical University Wenzhou,Zhejiang 325027,China)

机构地区：[1]温州医科大学附属第二医院育英儿童医院温州医科大学附属第一医院,浙江温州325027

出　　处：《中国卫生检验杂志》2019年第16期1964-1965,共2页Chinese Journal of Health Laboratory Technology

基　　金：温州市科技计划项目资助课题(Y20140612)

摘　　要：目的对1例B3亚型进行血清学和分子机制研究。方法应用单克隆抗-A、抗-B、抗-H试剂检测患者红细胞ABO抗原,应用标准A、B、O红细胞检测血清中ABO抗体,再对ABO基因6、7外显子和部分内含子进行聚合酶链反应和基因测序分析。结果患者红细胞与抗B呈弱凝集反应(呈混合视野),血清中存在抗A抗体,基因测序显示ABO基因在第3内含子发生IVS3+5G>A杂合突变,符合B303特征。结论 ABO基因IVS3+5G>A杂合突变导致D-半乳糖转移酶活性降低,引起B3表现型。Objective To study the serological and molecular mechanism of one case of B3 subtype. Methods ABO antigen was detected by monoclonal anti-A, anti-B, and anti-H reagents. Serum ABO antibodies were detected by standard A, B, O red blood cells. Mutations in exons 6 and 7, including partial intron of the ABO gene, were screened by polymerase chain reaction and DNA sequencing. Results There was a weak agglutination reaction between red blood cells and anti-B(mixed visual field) and anti-A antibody in serum. Gene sequencing showed that ABO gene had a heterozygous mutation of IVS3+5G>A in the third intron, which was consistent with the characteristics of B303. Conclusion The heterozygous mutation of ABO gene IVS3+5G>A results in the decrease of D-galactosyltransferase activity, which causes the B3 phenotype.

关 键 词：ABO血型系统 血清学 基因检测 测序 

分 类 号：R446.6[医药卫生—诊断学]