B等位基因新突变导致AB弱表型

发布时间：2018-03-20 17:34

本文选题：ABO血型　切入点：弱表达　出处：《中国输血杂志》2017年07期 　论文类型：期刊论文

【摘要】：目的对血清学血型鉴定困难的患者进行ABO基因分型。方法采用Diagnostic Grifols,S.A公司的DG Gel Confirm卡、Neutral卡、Coombs卡以及WADiana/8XT Compact Analyzer全自动系统进行血清学血型鉴定、抗球蛋白试验和抗体筛查,采用聚合酶链反应结合直接测序法检测该患者ABO基因的增强子、启动子、第1-7外显子及其邻近内含子序列。结果患者红细胞与抗B反应为弱阳性表型,即在凝胶卡中呈双群(DP),试管中呈混合视野(MF);而与抗A反应均为强阳性。DNA测序发现患者ABO基因存在9个变异,第6外显子的297AG杂合突变,第7外显子的467CT、526CG、657CT、703GA、796CA、803GC、829GT、930GA8处杂合突变,其中829GT为新变异。根据Blood Group Antigen Gene Mutation Database数据库,该患者为A102/B101血型弱表达。结论 B等位基因的新变异是造成A102/B101基因型中B弱表达的主要原因,血清学和分子生物学检测有助于深入了解血型表型和基因型的特点,为正确制定临床输血策略提供依据。
[Abstract]:Objective to study the ABO genotyping of patients with difficult serological blood group identification. Methods using the DG Gel Confirm card Neutral Coombs card and the WADiana/8XT Compact Analyzer automatic system of Diagnostic Gel Confirm S.A. to identify the blood group of the patients, the anti-globulin test and the antibody screening system were used. The enhancer, promoter, exon 1-7 and its adjacent intron sequence of ABO gene were detected by polymerase chain reaction and direct sequencing. It was found that there were 9 mutations in the ABO gene of the patients, the heterozygosity of 297AG in exon 6 and the heterozygous mutation of 657CT703GA796CA803GC829GT930GA8 in exon 7 were found in the gel card and in the test tube respectively, and the results showed that there were 9 mutations in the ABO gene of the patients with strong positive reaction to the anti-A gene, and the heterozygous mutation of 297AG in exon 6 and exon 7 was 657CT703GA796CA803GC829GTN 930GA8, respectively. According to the Blood Group Antigen Gene Mutation Database database, the patient was weakly expressed in A102 / B101 blood group. Conclusion the new variation of B allele is the main cause of B weak expression in A102 / B101 genotype. The detection of serology and molecular biology is helpful to understand the phenotypic and genotypic characteristics of blood groups and to provide the basis for correctly formulating clinical transfusion strategies.
【作者单位】：上海交通大学医学院附属上海儿童医学中心输血科;
【基金】：上海市公共卫生重点学科建设项目(15GWZK0501)
【分类号】：R457.11

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