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目的对5例B(A)亚型血型的分子机制进行研究,并探讨该亚型的红细胞表面A和B抗原的表达情况。方法日常工作中收集的5例B(A)血型标本进行血清学鉴定,并应用聚合酶链式反应-序列特异性引物法(PCR-SSP)、ABO基因直接测序、TA克隆单体型分析等方法,同时用流式细胞术直接分析红细胞表面A和B抗原的表达情况。结果发现了5例较为少见的B(A)02亚型,该亚型是由于ABO基因第7外显子存在700C/G杂合,导致Pro234Ala氨基酸替换所致。B(A)血型红细胞表面B抗原强度比正常B血型B抗原强度略低,而A抗原强度则明显低于正常A型血A抗原强度。结论 ABO基因700C>G突变是导致B(A)亚型的分子遗传基础之一,该亚型红细胞表面A或B抗原的强弱与正常红细胞相比均有差别。
Objective To study the molecular mechanism of 5 subtype B (A) subtypes and explore the expression of A and B antigens on this subtype. Methods Five cases of B (A) blood samples collected from routine work were identified by polymerase chain reaction-sequence specific primers (PCR-SSP), ABO direct sequencing and TA clone haplotype analysis Methods The expression of A and B antigens on erythrocytes were analyzed by flow cytometry. Five rare B (A) 02 subtypes were found. This subtype is due to the presence of 700C / G heterozygosity at exon 7 of the ABO gene, resulting in the substitution of Pro234Ala amino acids. B (A) erythrocyte B surface antigen intensity than normal B blood group B antigen intensity slightly lower, and A antigen intensity was significantly lower than normal A blood A antigen intensity. Conclusions The 700C> G mutation of ABO gene is one of the molecular genetic bases leading to B (A) subtype, and the intensity of A or B antigen on erythrocyte surface is different from that of normal erythrocytes.