38例ABO血型抗原表达异常的基因分析

Genetic analysis of expression abnormality of ABO blood group antigen in 38 cases

目的探讨ABO血型抗原表达减弱的血清学结果与基因多态性的关系。方法采用盐水试管法对38例ABO血型抗原表达异常标本进行ABO血型血清学鉴定及不规则抗体筛查。对ABO基因采用特异性序列引物聚合酶链反应(PCR-SSP)及第1~7外显子直接测序进行基因分型并比对。结果38例标本中共检出ABO等位基因18个,其中常见的等位基因15个,罕见的等位基因1个(Bw30/O01)及新等位基因2个。常州地区ABO基因多态性主要以A102/B101、A307/O02及Bw03为主,其中A102/B101占18.4%(7/38)、A307/O02占15.8%(6/38)、Bw03占7.9%(3/38)。另外发现3例突变型组合(B310/O01、Ax24/B101、Bw30/O01)及2例新突变位点(1036A>C、873C>T);5例突变均未被ISBT数据库收录。结论ABO亚型分子遗传在常州地区具有丰富的基因多态性,并发现3例突变型组合未收录和2例新突变位点未收录。新突变位点为ABO亚型突变发生机制研究提供样本来源,为精准输血提供参考。

Objective To investigate the relationship between the serology and genetic polymorphisms in ABO blood group antigen expression weakening.Methods The ABO blood group serological identification and irregular antibody screening were performed in 38 cases with ABO blood group antigen expression abnormality by saline test tube method.The ABO genes conducted the genotyping and comparison by PCR-SSP and direct sequencing of exons 1-7.Results A total of 18 ABO alleles were detected out in 38 samples,in which there were 15 common alleles,1 rare allele(Bw30/O01)and 2 novel alleles.The ABO gene polymorphisms in Changzhou area were mainly A102/B101,A307/O02 and Bw03,among which A102/B101 accounted for 18.4%(7/38),A307/O02 accounted for 15.8%(6/38)and Bw03 accounted for 7.9%(3/38).In addition,3 cases of mutant combinations(B310/O01,Ax24/B101,Bw30/O01)and 2 cases of new mutation loci(1036A>C,873C>T)were also found.None of the above 5 cases were included in the ISBT database.Conclusion The submolecular genetics of ABO has abundant gene polymorphisms in Changzhou area,3 cases of un-included mutant combinations and 2 cases of un-included new mutation sites are found.The new mutation site provides a sample source for the study of the mechanism of ABO subtype variation and provides the reference for precise blood transfusion.