摘要目的 探讨2例ABO血型亚型个体ABO血型亚型的血清学和分子生物学机制.方法 选择分别于2015年10月21日和2015年11月12日,送青岛市中心血站输血研究所进行ABO血型鉴定的2例疑难血型全血标本为研究对象.采用血清学正反定型试验和吸收放散试验方法,对2例标本进行ABO血型鉴定;采用PCR-序列特异性引物(SSP)法对标本进行ABO基因分型检测,并对其ABO基因第6、7外显子的核苷酸序列进行直接测序,对ABO基因第6、7外显子及第6内含子进行单倍型测序.结果 ①1例标本的血清学鉴定为Ael型;直接测序结果显示,其ABO基因第7外显子存在c.940A＞G杂合突变;单倍型测序结果显示,ABO基因型为Ax13/O02;②另1例标本的血清学鉴定结果为Bel型;直接测序结果显示,其ABO基因第7外显子存在c.784G＞A杂合突变;单倍型测序结果显示,其ABO基因型为Bw17/O01.结论 血清学分型和基因测序分型相结合的方法,是对疑难血型个体ABO血型亚型进行分型较为可靠的方法.

abstractsObjective To explore the serological and molecular biological mechanisms of 2 cases of ABO blood subgroup samples.Methods A total of 2 unconfirmed blood samples which were investigated at the Institute of Blood Transfusion of Qingdao Blood Center for ABO blood group identification,on 21 October 2015 and 12 November 2015,were included in this study as study objects,respectively.Phenotypes of blood samples were detected with forward and reverse blood grouping testing,absorption and irradiation test.PCR-sequence specific primer (SSP) and direct sequencing methods were carried out to identify the genotypes of the samples.The haplotypes of exon 6,7 and intron 6 were also analyzed by haplotype sequencing method.Results ① The serological identification of sample 1 was identified as Ael type.Direct sequencing showed that there was c.940A≥G heterozygous mutation in exon 7 of ABO gene.The results of haplotype sequencing showed that ABO genotype of this sample was Ax13/O02.② The serological identification of the other sample was identified as Bel type.The results of the direct sequencing showed that there was c.784G ≥ A heterozygous mutation in exon 7 of the ABO gene.The haplotype sequencing results showed that the ABO genotype of this sample was Bw17/O01.Conclusions The combination of serological typing and gene sequencing is a reliable method for typing ABO blood subgroups of unconformity blood type individuals.