ABO血型A抗原减弱个体的血清学和基因序列分析  

Serological and genetic sequencing analysis of an individual with reduced antigen A in ABO blood type

作　　者：蔡雪娇[1] 林海芬[1] 杨飘飘 谢作听[1] CAI Xue-jiao;LIN Hai-fen;YANG Piao-piao;XIE Zuo-ting(Department of Blood Transfusion,the First Hospital Affiliated to Wenzhou Medical University,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州医科大学附属第一医院输血科,浙江温州325000

出　　处：《中国卫生检验杂志》2020年第3期284-285,共2页Chinese Journal of Health Laboratory Technology

基　　金：温州市科技局项目资助课题(Y20190470)。

摘　　要：目的研究分析1例A亚型患者的ABO血型的血清学和分子生物学特点。方法用微柱凝胶法和试管凝集法检测样本的红细胞表型,PCR特异性扩增ABO基因1~7序列。结果该患者红细胞与抗A抗体反应减弱,与抗A1抗体不凝集,直接测序检测到该样本患者第6外显子出现261delG,第7外显子出现467C>T;1061delC,第4内含子1delG。结论患者A抗原减弱与A201等位基因有关,新的突变点第4内含子1delG是否进一步造成A抗原减弱还需要深入研究。Objective To study the serological and molecular biological characteristics of a patient with A subtype in ABO blood group.Methods The erythrocyte phenotypes of the samples were detected by microcolumn gel method and tube agglutination method.Specific sequence-specific primer-polymerase chain reaction(PCR)was used to specifically amplify the 1-7 sequence of ABO gene.Results The erythrocyte and anti-A antibody responses of this patient were attenuated,and anti-A1 antibody did not agglutinate.Direct sequencing showed that 261 delG appeared in exon 6 of the sample,and 467 C>T appeared in exon 7;1061 delC,4th intron 1 delG.Conclusion The reduction of A antigen is associated with A201 allele.Whether the new intron 1 del in the new mutation point 4 further causes A antigen reduction still requires further investigation.

关 键 词：ABO基因 亚型 序列分析 

分 类 号：R446.6[医药卫生—诊断学]