ABO亚型B(A)04的鉴定及分子机制研究

Identification of Serologic and Molecular Bases of B(A)04 Subtype of ABO Blood Group

目的研究B(A)04血型的特性,为B(A)04血型的临床输血提供理论基础。方法应用血型血清学技术和基因分型技术鉴定B(A)04血型的特性,采用PCR方法扩增其ABO基因7个外显子、侧翼内含子,PCR产物采用直接测序和克隆测序方法,以确定B(A)血型的分子机制。结果血型血清学有相应的反应格局,患者正定型:A弱B,反定型:A1c 2+,Bc阴性,ABO基因测序发现第7外显子640位碱基发生A>G突变,导致214位蛋氨酸被缬氨酸替换,ABO血型基因型为ABO*B(A)04/O01。结论亚型或稀有血型的鉴定分析要慎重,必要时应用血型基因分型技术辅助定型,保障输血安全。

Objective To investigate the characters of B（A）04 subtype in order to provide a theoretical basis for the work of clinical blood transfusion. Methods The characteristics of B（A）04 subtype were identified by serological and genotyping technology. Exons 1 -7 and adjacent introns of the ABO gene were amplified by polymerase chain reaction （PCR）. The PCR products were directly sequenced and cloning sequenced to identify the molecular mechanism of B（A）04 subtype. Results The patient showed ABO forward and reverse typing discrepancy. ABO forward typing defined A weak B. However, A1 cells （2＋） and B cells （-） were observed in the reverse typing. The ABO gene sequencing showed a A〉G substitution at position in exon 7 which caused a Met to Val exchange at codon 214. The ABO blood group genotype was ABO＊B（A）04/O01. Conclusion The identification and analysis of subordinate or rare blood types should be very careful. In order to ensure the safety of blood transfusion, the molecular biological detection should carried out when necessary.