摘要目的 探讨一种新的B(A)型的分子机制.方法 应用PCR-序列特异性引物检测一例ABO血型正、反定型不一致献血者的ABO基因型,同时扩增A BO基因的第6和第7外显子,并进行直接测序和克隆测序.结果 ABO血型正、反定型不一致献血者的红细胞不能吸收放散抗-A,血浆中未检出不规则抗体.PCR-序列特异性引物结果显示其基因型为ABO*B/O.测序结果显示一等位基因为A BO*O02,另一等位基因的突变位点为297A>G、526C>G、657C>T、701C>T、703G>A、796C>A、803G>C、930G>A;该等位基因被GenBank收录(登录号KM974887),经检索血型抗原基因突变数据库证实为新的B(A)等位基因.结论 鉴定了一新的等位基因ABO*B(A)07,为深入研究血型抗原的异常表达和ABO血型的准确定型提供了依据.

abstractsObjective To explore the molecular basis for a novel B(A) phenotype .Methods Genomic DNA was abstracted from peripheral blood sample from the proband .ABO genotyping were carried out with sequence specific primer PCR (PCR-SSP) .Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced .Results Anti-A serum could not be adsorbed or eluted by the donor's red blood cells ,and no irregular antibodies were found in the plasma .PCR-SSP showed that the ABO genotype of the donor was ABO*B/O .Sequencing results showed that one of the alleles was ABO*O02 ,while the other could not be defined but contained the following mutation points ,297A>G ,526C>G ,657C> T ,701C> T ,703G>A , 796C> A ,803G > C ,and 930G > A .The data was accepted by the GenBank (the loading code was KM974887) and the Blood Group Antigen Mutation Database ,and was confirmed to be a novel allele of B (A) .Conclusion A novel allele ABO* B(A)07 with 701C> T has been identified ,which may facilitate further study on blood antigen variants and typing of the blood groups .