2例Aw43亚型的血清学和分子生物学鉴定分析  

Serological and molecular biological analysis of Aw43 subtype:report of two cases

作　　者：朱于莉 韩斌 冯智慧 ZHU Yuli;HAN Bin;FENG Zhihui(Institute of Transfusion Medicine,Qingdao Blood Center,Qiandao 266071,China)

机构地区：[1]青岛市中心血站输血研究所,山东青岛266071

出　　处：《中国输血杂志》2024年第1期107-110,共4页Chinese Journal of Blood Transfusion

基　　金：市南区科技计划项目(2020-2-016-YY)

摘　　要：目的对2例ABO疑难血型进行血清学鉴定和分子机制研究。方法采用试管法进行血型血清学试验,DNA直接测序分析ABO基因外显子和转录调控区,TA克隆测序确认单倍体的突变位点,采用DeepTMHMM进行跨膜区预测和分析。结果2例标本均表现为正定型A抗原减弱,同时反定型存在抗-A;ABO基因分析明确两者均含有1A>G,467C>T突变,为Aw43基因型;DeepTMHMM分析预测1A>G突变导致翻译起始位点后移将严重影响跨膜区结构。结论2例疑难血型是Aw43等位基因型,1A>G突变影响了跨膜区并进而改变了糖蛋白结构,导致酶功能受损。Objective To conduct serological identification and molecular study of two patients with ABO ambiguous blood group.Methods The serological tests were conducted by the tube method.DNA direct sequencing was performed to analyze the exons and transcriptional regulatory regions of the ABO gene.TA clone sequencing was performed to confirm the mutation sites of the haploid.DeepTMHMM was used for transmembrane region prediction and analysis.Results Both samples showed weak agglutination with anti-A in forward typing and the presence of anti-A antibodies in reverse typing.ABO gene analysis confirmed 1A>G and 467C>T mutations of A101 gene,indicating the Aw43 allele.DeepTMHMM analysis showed that 1A>G mutation shift back the translation start site,which would affect the transmembrane structure seriously.Conclusion The two cases of ABO ambiguous blood group were with Aw43 alleles.The 1A>G mutation affected the transmembrane region and subsequently altered the glycoprotein structure,resulting in impaired enzyme function.

关 键 词：ABO疑难血型 Aw43 跨膜区 

分 类 号：R457.1[医药卫生—治疗学]