摘要
目的:分析ABO基因第7外显子c.721C>T变异导致的不同亚型,探讨影响抗原表达的分子机制。方法:通过标准血型血清学方法鉴定7例样本的ABO亚型,应用聚合酶链反应(polymerase chain reaction,PCR)法扩增ABO基因第6、7外显子及相关内含子,并进行直接DNA测序和克隆测序。结果:7例ABO表型分别为:A_(w) 1例、B_(w) 3例、AB_(w) 2例、A2或A_(int) 1例。测序发现,ABO基因第7外显子分别在A1.02、B1.01和O.01.02等位基础上发生了c.721C>T变异,等位基因分别为AW.43(1例)、BW.03(5例)和O.01.07(1例),基因型分别为ABO*AW.43/O.01.02(1例)、ABO*BW.03/O.01.01(3例)、ABO*A1.02/BW.03(2例)和ABO*A2.05/O.01.07(1例)。结论:ABO基因c.721C>T变异引起241位氨基酸精氨酸(Arg)被色氨酸(Trp)替换,导致α-1,3-N-乙酰半乳糖胺基转移酶(GTA)或α-1,3-D-半乳糖基转移酶(GTB)活性降低,抗原表达减弱。在O.01.02基础上产生c.721 C>T变异形成的O.01.07等位基因,是一个无效等位基因,不能形成有催化功能的酶,对A2亚型抗原的表达无影响。
Objective:To analyze the different subtypes caused by c.721 C>T substitution in the exon 7 of the ABO gene,and to investigate the related molecular mechanism of different antigens expression.Methods:ABO subtypes in 7 samples were identified by standard serological methods.The exons 6,7,and adjacent intron of ABO gene were amplified by Polymerase Chain Reaction(PCR),and the PCR products were analyzed by direct DNA sequencing and cloning sequencing.Results:ABO subtypes phenotypes were A_(w)(1 case),B_(w)(3 cases),AB_(w)(2 cases),A_(2) or Aint(1 case).The result showed that the 7 th exon of ABO gene was c.721 C>T variety based on A1.02,B1.01,and O.01.02;the alleles were AW.43(1 case),BW.03(5 cases)and O.01.07(1 case),ABO genotypes were ABO*AW.43/O.01.02(1 case),ABO*BW.03/O.01.02(3 cases),ABO*A1.02/BW.03(2 cases),and ABO*A2.05/O.01.07(1 case).Conclusion:c.721 C>T substitution in the ABO gene causes p.Arg241 Trp exchange resulting in the decreasing of GTA or GTB activities and weaker antigen expression.O.01.07 is a null allele which cannot form a functional catalytic enzyme has no effect on A2 subtype antigen expression.
作者
肖建宇
冯晨晨
刘太香
史丽莉
张若洋
黄成垠
陈青
XIAO Jian-Yu;FENG Chen-Chen;LIU Tai-Xiang;SHI Li-Li;ZHANG Ruo-Yang;HUANG Cheng-Yin;CHEN Qing(Jiangsu Province Blood Center,Nanjing 210042,Jiangsu Province,China;Center for Global Health,School of Public Health,Nanjing Medical University,Nanjing 211166,Jiangsu Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2021年第6期1917-1922,共6页
Journal of Experimental Hematology
基金
江苏省“十三五”期间“科教强卫工程”医学重点人才(ZDRCB2016010)
江苏省重点研发计划社会发展项目(BE2015717)
江苏省高层次卫生人才“六个一工程”拔尖人才项目(LGY2017095)
江苏省第五期“333高层次人才培养工程”(2016-Ⅲ-3344)。
