罕见B(A)血型的鉴定

Identification for rare B(A) blood group

目的观察2例罕见B(A)血型的血清学特征并研究其分子机制。方法用血型血清学鉴定2例献血者标本ABO血型,用序列特异性引物聚合酶链反应(PCR-SSP)基因分型和直接测序确定其基因型。结果 2例献血者血型血清学检测结果均表现为B(A)亚型的特点。标本1基因分型为BO2,测序结果为第7外显子B基因发生640A>G突变,符合B(A)04/O02的基因型特点;标本2基因分型为BO1,测序结果为第7外显子B基因发生700C>G突变,符合B(A)02/O01的基因型特点。结论2例标本均为B(A)表现型,基因型分别为B(A)04/O02和B(A)02/O01。

Objective To investigate the serological and molecular identification of 2 rare B（ A） blood groups. Methods The ABO blood groups of 2 samples from blood donors were detected by routine serological method. The genotype features was identified by PCRsequence specific primer（ PCR-SSP） and direct sequence analysis. Results The serological results for the 2 blood donors showed the characteristics of B（ A） phenotype. The sample 1 was genotyped as BO2 subtype by PCR-SSP and direct sequencing showed B alleles in exon 7,presented nt640 AG mutation which was confirmed to be B（ A） 04/O02 genotype. The sample 2 was genotyped as BO1 subtype by PCR-SSP and direct sequencing showed B alleles presented nt700 C G mutation in exon 7 which was confirmed to be B（ A） 02/O01 genotype. Conclusion The phenotype of the two samples should be B（ A） and the genotypes should be rare B（ A） 04/O02 and B（ A） 02/O01.