B(A)血型与cisAB血型的血清学表型及基因型研究

Study on serological phenotype and genotype of B(A) blood group and cisAB blood group

目的:研究罕见B(A)和cisAB血型的血清学特性和分子机制,对表型和基因型的关联性进行分析。方法:采用血型血清学方法进行ABO血型正反定型,对其中血清学表型为AB亚型的标本,应用PCR-SBT法扩增ABO基因第6、7外显子,进行基因测序,确定突变位点和类型,并对表型和基因型关联性进行分析。结果:16例血清学表型为AB亚型的标本中,经分子生物学鉴定确定为B(A)血型的12例,包括3种B(A)型等位基因,分别为ABO*BA.03(1例)、ABO*BA.04(5例)、ABO*BA.02(6例),这3种等位基因所对应的表型有B(A)、ABx、正O反B。确定为cisAB血型的4例,4例样本基因型全部为ABO*cisAB.01,血清学表型为AxB和A2Bx,未发现其他变异型。结论:本研究显示了16例B(A)型和cisAB型的血清学表型和基因型特点,通过基因测序了解突变位置及类型。相同的基因型可表现出多种不同的血清学反应特点,对于ABO亚型等疑难血型的鉴定,采用血清学方法和分子生物学方法相结合的方式能够准确鉴定血型。

Objective:To study the rare B(A)and cisAB blood groups’ serological characteristics and molecular mechanism and analyze the association of phenotype and genotype. Method:The positive and negative typing of ABO blood group was carried out by blood group serological method.The samples of AB subgroup was typed with PCR-SBT method.We amplified the 6 and 7 exon on ABO gene by PCR-SBT method to confirm mutation site and type and analyze the association of the phenotype and genotype. Result:There were 12 cases of B(A)blood group and 4 cases of cisAB blood group by molecular biological identification among 16 AB subgroup samples in serology.12 B(A)type cases included 3 kinds of allele of ABO*BA.03(1 case),ABO*BA.04(5 cases)and ABO*BA.02(6 cases),with the phenotype of B(A),ABsub and positive definite type O and inverse type B.4 cisAB type cases were ABO*cisAB.01 genotype with the phenotype of AsubB and A2 Bsub,no variant.Conclusion:The serological phenotypes and genotypic characteristics of 16 cases of B(A)and cisAB groups show the mutation site and type in this study by gene sequencing.The same genotype could show various serological phenotypes.The identification of ABO subgroup doubt samples can be correctly identified by combination of serological method and molecular biology identification.