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20例ABO*AW.37等位基因增强现象的分析

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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。
Analysis of ABO allelic enhancement phenomenon in 20 cases with ABO*AW.37 allele
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.

ABO subtypeABO*AW.37allelic enhancementgene sequencing

黄娴、李双玉、李彤彤、吴丽娜、解金辉、马蕾、种靖慧、安仕萍

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天津市血液中心,天津 300110

ABO亚型 ABO*AW.37 等位基因增强 基因测序

天津市卫生健康委员会科技项目

TJWJ2021MS047

2024

中国输血杂志
中国输血协会 中国医学科学院输血研究所

中国输血杂志

CSTPCD
影响因子:1.279
ISSN:1004-549X
年,卷(期):2024.37(8)