1例B（A）亚型的血型分子生物学鉴定

Molecular biological identification of one case B （A） subtype in blood type

目的：对一例ABO血型正反定型不符,疑为B（A）亚型的患者样本进行血型分子生物学鉴定,以确定患者血型.方法：应用血型血清学和基因测序方法进行ABO血型鉴定和基因碱基序列检测.结果：血型血清学鉴定,红细胞上具有A抗原和B抗原,且凝集强度B〉A;血清中具有抗A1抗体;H抗原凝集强度大于对照组标准B细胞,低于标准O细胞.ABO基因Exon6和Exon7直接测序,Exon6显示nt261缺失G,表现为O基因特征性突变,为O01基因.Exon7显示nt526C/G、nt657C/T、nt700C/G、nt703G/A、nt796C/A、nt803G/C、930G/A杂合,nt700C/G为B（A）02特有的基因突变,测序结果确定为B（A）02/O01型.结论：对血清学鉴定困难的疑难血型患者应该进行基因分型,确保患者输血安全.

Objective： To determine the blood type of one case suspected B （A） subtype which showed inconsistence in ABO blood positive and negative stereotype sby molecular biological identification. Methods： Serological method was used to identify the ABO blood group, and gene sequencing method was used to detect the nucleodde sequence. Results： It was showed that both A and B antigens were detected on red cell with aggregation intensity of B〉A, and there was anti A1 antibody in the sera. H antigen on the blood cells was detected stronger than that of standard B cells, which was weaker than that of standard O cells. Gene sequencing showed 261 G/del in exon6, with O01 gene, and nt526C/G, nt657C/T, nt700C/G, nt703G/A, nt796C/A, nt803G/C, nt930G/A heterozygous in Exon7. nt700C/G heterozygous was caused by a unique mutation orB （A） 02, so the patient was identified as B （A） 02/O01 type. Conclusion： Patients who have difficulty in blood typing with serological method should be genotyped to ensure the safety of blood transfusion.