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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297A>G杂合突变,第7外显子的467C>T、526C>G、657C>T、703G>A、796C>A、803G>C、829G>T、930G>A8处杂合突变,其中829G>T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。
OBJECTIVE: To perform ABO genotyping in patients with serological blood type identification difficulties. Methods Serum blood type identification, antiglobulin test and antibody screening were performed by using Diagnostic Grifols, SA DG Gel Confirm card, Neutral card, Coombs card and WADiana / 8XT Compact Analyzer. Polymerase chain reaction combined with direct sequencing Method to detect the ABO gene enhancer, promoter, 1-7 exon and its adjacent intron sequences. Results The erythrocytes and anti-B reaction were weakly positive phenotypes, that is, the double group (DP) appeared in the gel card and the mixed field of view (MF) in the test tube; while it was strongly positive with the anti-A reaction. DNA sequencing found that there were 9 mutations in ABO gene, 297A> G heterozygous mutation in exon 6, 467C> T, 526C> G, 657C> T, 703G> A, 796C> A in exon 7, 803G> C, 829G> T, 930G> A8. Among them, 829G> T is the new mutation. According to the Blood Group Antigen Gene Mutation Database database, this patient is a weakly expressed A102 / B101 blood group. Conclusion The new mutation of B allele is the main reason for the weak expression of B in A102 / B101 genotypes. Serological and molecular tests may be helpful to understand the phenotypes and genotypes of blood type. In order to make a proper clinical transfusion strategy Provide evidence.