20例ABO*AW.37等位基因增强现象的分析
Analysis of ABO allelic enhancement phenomenon in 20 cases with ABO*AW.37 allele
黄娴 1李双玉 1李彤彤 1吴丽娜 1解金辉 1马蕾 1种靖慧 1安仕萍1
作者信息
摘要
目的 分析 20 例携带ABO*AW.37 等位基因的血清学和分子生物学特征,研究等位基因增强现象.方法 采用血清学方法检测ABO表型,对ABO基因 1～7 外显子采用Sanger测序进行基因型检测.结果 20 例测序均存在ABO*AW.37 的特征性变异c.940A>G(p.Lys314Glu).9 例ABO*AW.37 与B等位基因同时遗传时正定型抗-A均有凝集,血清学表型均为AwB.而11 例ABO*AW.37 与O基因同时遗传时正定型抗-A均无凝集;吸收放散5 例弱阳性,血清学表型为Ael;6 例吸收放散结果阴性,血清学表型为O型.结论 ABO*AW.37 基因与B等位基因同时遗传时,存在等位基因增强现象.ABO*AW.37 基因与O等位基因同时遗传时,血清学表型为Ael或O型,血型鉴定时需注意避免误判.
Abstract
Objective To investigate the serological and molecular characteristics of twenty blood samples carrying ABO∗AW.37 allele and to analyze ABO allelic enhancement.Methods The ABO phenotype of the twenty samples was de-termined by serological methods and the genotype of 1-7 ABO exons was analyzed by Sanger sequencing.Results Sequen-cing analysis showed that all twenty samples contained a c.940A>G(p.Lys314Glu)mutation of A allele,which was defined as ABO∗AW.37.When ABO∗AW.37 and B alleles were inherited simultaneously in 9 cases,in forward typing anti-A anti-bodies all agglutinated and the serological phenotype was Aw B.Among the 11 cases with ABO∗AW.37 and O alleles inherited simultaneously,there was no agglutination of anti-A in forward typing.For absorption and elution tests,5 cases were weakly positive and the serological phenotype was Ael,while 6 cases were negative for absorption and elution tests and the serologi-cal phenotype was O type.Conclusion Allelic enhancement occured when both ABO∗AW.37 allele and B allele were in-herited simultaneously.When ABO∗ AW.37 was inherited simultaneously with O allele,the serological phenotype was Aelor O type and attention should be paid to blood type identification.
关键词
ABO亚型/ABO*AW.37/等位基因增强/基因测序Key words
ABO subtype/ABO*AW.37/allelic enhancement/gene sequencing引用本文复制引用
基金项目
天津市卫生健康委员会科技项目(TJWJ2021MS047)
出版年
2024
国家科技期刊平台
NSTL
万方数据