易漏检的B311亚型血清学及分子生物学分析  

Serological and molecular biological analysis of easily missed B subtype

作　　者：赵媛 李代红 艾丽萍 ZHAO Yuan;LI Daihong;AI Liping(Department of Blood Transfusion,Tianjin First Central Hospital,Sfihool of Medicine,Nankai University,Tianjin 300192,China;Tianjin Super Biotechnology Development Co.,Ltd.)

机构地区：[1]天津市第一中心医院南开大学医学院输血科,天津300192 [2]天津市秀鹏生物技术开发有限公司

出　　处：《中国输血杂志》2021年第5期522-525,共4页Chinese Journal of Blood Transfusion

摘　　要：目的总结发现的B311亚型血清学特征并进行基因序列分析。方法对4例全自动血型鉴定系统判定为正反定型相符,但是试管法B抗原混合凝集的标本进行序列特异引物聚合酶链反应(PCR-SSP)、启动子5’端和1~7外显子直接测序;结果 4例标本的微柱凝胶卡B抗原4+,全自动血型系统判定为正反定型相符B或AB型;试管法B抗原2+~3+混合凝集。PCR-SSP结果分别为B/O012例、B/O021例,AB1例;直接测序1~7外显子对比B101未发现突变,启动子5’端发现-35~-18d^(el)GGCGGAAGGCGGAGGCCG杂合突变。结论 B等位基因-35~18del碱基突变是B311的分子遗传机制,启动子活性降低导致B3血清学表现,全自动血型鉴定系统对B311亚型检出存在局限性。Objective To summarize the serological characteristics of B311 subtype and analyze its gene sequence. Methods PCR-SSP, direct sequencing of promoter 5’end and 1-7 exons were performed on 4 samples, which were consistent by forward and reverse blood typing via automatic blood type system, but presented mixed agglutination of B antigen via test tube method. Results The 4 samples, with the presence of B antigen 4+ in the microcolumn gel card, were determined as the blood group of B or AB by the automatic blood type system according to the consistency between forward and reverse blood typing. While mixed agglutination of B antigen 2+-3+ was observed by test tube method. Among the 4 samples, 2 were B/O01, 1 B/O02, and 1 AB by PCR-SSP. No mutation was found in B101 by direct sequencing of exons 1-7, and a heterozygous mutation of-35--18 d^(el)GGCGGAAGGCGGAGGCCG was found at the 5’end of the promoter. Conclusion The-35--18 del base mutation at B allele is the molecular genetic mechanism of B311. The reduced promoter activity leads to B3 serological performance. The automatic blood type system has certain limitations in detecting B311 subtype.

关 键 词：B311亚型 启动子 血清学 分子生物学 

分 类 号：R457.11[医药卫生—治疗学]