一例ABO血型A抗原减弱的血清学及其基因变异分析  

Serology and Genetic Variation of a Case of A Antigen Weakening From ABO Blood Group

作　　者：郑双林 谢华斌 ZHENG Shuanglin;XIE Huabin(Department of Clinical Laboratory,Xiamen University Affiliated Cardiovascular Hospital,Xiamen 361000 China)

机构地区：[1]厦门大学附属心血管病医院检验科,福建厦门361000

出　　处：《内蒙古医学杂志》2023年第8期939-942,共4页Inner Mongolia Medical Journal

基　　金：2020年厦门市医疗卫生指导性项目(编号:3502Z20209142)。

摘　　要：目的分析1例A抗原表达减弱患者的血清学及分子生物学特点,并探讨其分子生物学机制及输血策略。方法应用常规血清学方法进行ABO血型鉴定,测序分型确定ABO基因型。结果血清学格局为A抗原减弱,基因测序表明外显子6存在c.261delG杂合突变、外显子7存在c.467C>T杂合突变、内含子6存在c.374+5G>A杂合突变,患者基因型为A102/AEL04/O01,表型为Ael。结论A等位基因内含子6的c.374+5G>A突变,导致转录过程形中成不同剪接变异体,造成A型糖基转移酶的活性减弱或失活,是本例患者A抗原减弱的主要原因。Objective To analyze the serological and molecular biological characteristics of a patient with weakened A antigen expression,and to discuss the molecular biological mechanism and transfusion strategy.Method ABO blood group was identified by conventional serological methods and ABO genotypes were determined by sequencing.Results The serological pattern indicated weakened A antigen,and gene sequencing showed the presence of c.261delG heterozygous mutation in exon6,c.467C>T in exon7,and c.374+5G>A in intron 6.The patient had genotype A102/AEL04/O01and phenotype Ael.Conclusion The c.374+5G>A mutation in intron 6 of the A allele resulted in the formation of different splice variants during transcription,causing decreased activity or inactivation of the type A glycosyltransferase,which was the main cause of the weakened A antigen in this patient.

关 键 词：ABO血型 血清学 基因测序 

分 类 号：R457.7[医药卫生—治疗学]