B(A)血型的血清学特点及基因分析—附1例报告

The Serological and Genetic Features of Blood Type B(A)-One Case Report

目的探讨1例B(A)血型的血清学特点,及采用基因测序技术对B(A)血型进行鉴定。方法采用血型血清学技术检测ABO血型表型,采用直接测序和克隆测序方法确定其ABO基因型。结果血清学结果正反定型不符,正定型为AB型,A抗原较弱,H抗原较正常B型明显增强;反定型血浆中有较弱的抗-A1;对ABO基因第6、7外显子进行基因测序,第6外显子有O_(02)等位基因,第7外显子存在640A>G突变,证实为B(A)_(04)等位基因,基因型确定为B(A)_(04)/O_(02)。结论血型确定为B(A)血型,进一步基因型鉴定为罕见的B(A)_(04)/O_(02)。

Objective To investigate the serological characteristics of one case of B（A） blood type identified by DNA sequencing. Methods The ABO blood phenotypes were determined by routine serological methods,and the ABO genotype was determined by direct sequencing and cloning sequencing. Results The serological results of positive and reverse ABO blood typing were inconsistent.The positive serological result presented AB,while the A antigen was relatively weak and the H antigen was stronger than that of the normal type B. The reverse serological detection showed the existence of weak anti-A1. Complete regions of sixth and seventh exons of the ABO gene were amplified.The sequencing result showed that allele O02 was found in the sixth exon,and 640 A〉G mutation was showed in the seventh exon. It showed an allele of B（A）04 and genotype of B（A）04/O02. Conclusion The blood type was identified as B（A）,and further genotype was identified as a rare B（A）04/O02.