Objective Using PCR genotyping and sequence analysis to clarify the ABO blood group molecular mechanism of a volunteer blood donor whose serological result seems like B(A). Methods Routine red cell and serum tests for ABO were processed at first. And exon 6 and 7 of ABO gene were analyzed by PCR and sequence analysis. Results The specimen showed like B(A), since it was serum reactive with both Al and A2 cells and had strong H antigens expression. The PCR genotyping results was B(A)02. Further sequencing showed that specimen had the 261delG mutantion in exon6 and the nt700C/G mutation in the allele B gene. Conclusion The sample was finally determined as B(A)02/O01.%目的 对1例ABO定型正反不符[血清学初定为B(A)]的标本进行PCR分型和测序分析,拟阐明其血清学的分子机制.方法 采用试管法进行血清学鉴定；用PCR-SSP方法对标本ABO基因亚型进行初筛,并测序分析标本ABO基因的第6和第7外显子.结果 血清学表现为AxB,且H抗原明显增强,反定与A1细胞和A2细胞皆有反应,初定为B(A)型；PCR-SSP分型定为B(A)02型.测序表明:标本的第6外显子存在261delG突变；第7外显子在B101序列的基础上,出现了B(A)02型700C/G的典型突变.结论 该标本的基因型为B(A)02型与O01型杂合.
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