目的:探讨1例ABO血型血清学正、反定型不符的血样标本的分子遗传学基础。方法:采用试管法对此例血样进行ABO血型正、反定型，应用直接测序及单倍型测序的方法确定其基因型。结果:此例样本血型血清学结果显示，其正定型为AwB型，反定型为B型；直接测序及单倍型测序最终结果显示，其中一条等位基因为O01，另一条等位基因与A101标准序列相比，存在c.297A>G、c.657C>T、c.796C>A、c.803G>C及c.930G>A碱基突变。结论:经基因测序证实，此例血清学定型困难的样本基因型为O01/B(A)new型，此突变类型的B(A)型既往未见报道。“,”Objective:To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.Methods:ABO serology was carried out with the standard tube method.To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.Results:Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c. 297A>G, c. 657C>T, c. 796C>A, c. 803G>C, c. 930G>A variants as compared with the A101 allele.Conclusion:Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.