罕见B(A)亚型的血清学特点及分子机制的探究

Identification of serologic and molecular biological characters of rare B(A)blood subgroup

目的:研究罕见B(A)血型的血清学特性和分子机制,为B(A)血型的临床输血提供理论基础。方法:采用血型血清学方法、PCR-RELP基因分型和血型第6、7外显子直接测序的方法进行B(A)血型鉴定,并分析B(A)血型的分子机制及遗传规律。结果:4例B(A)血型病例中,1号和4号病例为B(A)*04型,B等位基因在正常B*101基础上第7个外显子发生了640A>G突变;2和3号病例以及2号的儿子为B(A)*02型,B等位基因发生单碱基错义突变700C>G。结论:当ABO血型正反定型不一致或血型血清学检测结果不符合孟德尔遗传规律时,可通过亚型血清学分析,采用分子诊断技术和家系调查辅助诊断,进行正确的血型鉴定,选择合适的血液制品进行输注,为临床输血提供安全保障。

Objective：To investigate the serologic and molecular biological characters of rare B（A）blood subgroup,so as to provide theoretically support to blood transfusion for B（A）blood type.Method：Standard serological method was used to determine blood group.PCR-RFLP and sequencing of exon 6and 7of blood group gene were used to identify the genotype and heredity feature.Result：4patients of blood group B（A）were included in this study.Patient 1and 4were type B（A）＊04,which had a mutation 640A〉G on B＊101.Patient 2and 3were type B（A）＊02,and son of patient 2was also type B（A）＊02,which had a missense mutation on 700C〉G on B.Conclusion：Subgroup serological analysis along with molecular diagnosis and family investigation could be used for accurate determination of blood group when serological result neither follow Mendelian inheritance nor show coincident in positive and negative blood typing,which might be helpful to choose the appropriate blood type for a safe blood transfusion in clinic.