ABO血型A201等位基因表达A抗原活性的分析  

Evaluation of the A antigenicity expressed by A201 in ABO blood group

作　　者：周懿舒[1] 李春梅[1] 朱兰卉[1] 李冯锐[1] 崔洪刚[1] 宣金锋[1] 邢佳鑫[1] 丁梅[1] 王保捷[1] 庞灏[1] 

机构地区：[1]中国医科大学法医学院法医血清学教研室,辽宁沈阳110001

出　　处：《中国输血杂志》2013年第4期327-331,共5页Chinese Journal of Blood Transfusion

基　　金：教育部归国人员科研启动基金(2008890)

摘　　要：目的了解ABO血型系统中A201等位基因表达的A抗原活性。方法采用血型血清学方法检测1个家系2代3人血液和唾液各1份标本的ABO血型表型;应用Identifiler法医基因分析试剂盒作亲缘关系鉴定;PCR扩增ABO基因所有外显子区后作DNA测序分析,PCR-RFLP法同步检测A201等位基因中的序列变异。结果亲缘关系鉴定显示在Identifiler的15个遗传标记系统中,父母均能够提供全部相应的等位基因给孩子,确定存在亲缘关系;然而采用不同来源的3份抗体作ABO血型检验时,出现其中之一的正定型试验否定母子关系、反定型不能排除母子关系的矛盾现象。3个标本ABO基因的测序:父、母、子的基因型分别为O01/O01、A201/B101和A201/O01,支持反定型结果,提示A201等位基因在AB和A表型中所表达的A抗原活性存在明显的差异。PCR-RFLP法成功地同步鉴定出A201等位基因中的2个主要变异点467C/T和1059-1061delC。结论 ABO血型A201基因在AB和A表型中表达A抗原活性可能因检测抗体不同表现出一定的差异;基因测序与PCR-RFLP法同步分析可简便快速地鉴定A201等位基因中的467C/T和1059-1061delC。Objective To study the differences of the A antigenicity expressed by A201 between AB and A phenotypes in ABO blood group. Methods The ABO blood groups of 3 samples of blood and saliva from one family within two genera- tions were determined by standard serological method. Paternity testing was performed by the AmpFLSTR Identifiler Plus PCR Amplification Kit. All exons ofABO gene were amplified by PCR and the PCR products were sequenced. Furthermore, we simultaneously detected the sequence variations^of A201 via PCR-RFLP. Results Positive paternity was concluded by analyzing genetic data for 15 STR loci. However, a controversial phenomenon, which showed negative paternity under forward grouping, while positive under reverse grouping, was observed by the comparison among 3 different sources of antibod- ies. The genotypes of father,mother and the child were determined as O01/O0l ,A2OI/BIO1 and A201/O01, by DNA se- quencing, supporting the results from the reverse grouping. The results suggested that there were significant differences of the A antigenicity expressed by A201 between AB and A pbenotypes. A simultaneous detection of C467T and 1059-1061de/ C variants presented in A201 was successfully built by PCR-RFLP and fragment size differences. Conclusion There is a sig- nificant difference of the A antigenicity expressed by A201 between AB and A phenotypes. A rapid and effective method to detect the variants in A201 has been set up.

关 键 词：ABO血型 A2亚型 等位基因 A201 DNA测序 PCR-RFLP 

分 类 号：R457.11[医药卫生—治疗学] D919.4[医药卫生—临床医学]