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目的对1例正反定型不符的标本进行血清学疑难血型鉴定和分子生物学机制分析。方法应用常规血型血清学方法进行血型鉴定;对ABO基因的Exon6和Exon7扩增后进行直接测序,并进行单体型测序确定其基因型。结果该例标本血清学表现为B_w,红细胞与抗-A不凝集,与抗-B 2+凝集,与抗-A1不凝集,血清中存在抗-A;直接测序及单体型测序显示,此例标本的B等位基因在Exon7存在nt664G>A突变。结论经测序检测证实,此例血清学表现为B_w的标本,其基因型为罕见的B_w31/O01型。
OBJECTIVE: To identify serological difficult blood type and analyze the molecular biological mechanism of a positive and negative stereotyped specimens. Methods The blood type was identified by routine blood group serological method. Exon 6 and Exon 7 of ABO gene were directly sequenced after amplification, and their genotypes were determined by haplotype sequencing. Results The serological results of this sample were B_w, agglutination of erythrocytes and anti-A, agglutination with anti-B 2+, non-agglutination with anti-A 1 and anti-A in serum. Direct sequencing and haplotype sequencing showed that The B allele of the sample showed nt664G> A mutation in Exon7. Conclusion The results of sequencing confirmed that the serological manifestations of this case were B_w specimens whose genotypes were rare B_w31 / O01.