中国人群血型ABO亚型的分子基础研究  

The study on molecular basis of ABO blood subgroups in the Chinese population

作　　者：雷航[1] 范亮峰[2] 蔡晓红[1] 王钰箐 刘曦[2] 金沙[2] 沈伟[2] 陆琼[2] 向东[2] 王学锋[1] 邹纬[1] LEI Hang;FAN Liangfeng;CAI Xiaohong;WANG Yuqing;LIU Xi;JIN Sha;SHEN Wei;LU Qiong;XIANG Dong;WANG Xuefeng;ZOU Wei(Blood Transfusion Department,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Blood Group Reference Laboratory,Shanghai Blood Centre,Shanghai 200051,China)

机构地区：[1]上海交通大学医学院附属瑞金医院输血科,上海200025 [2]上海市血液中心血型参比室,上海200051

出　　处：《诊断学理论与实践》2020年第4期364-369,共6页Journal of Diagnostics Concepts & Practice

基　　金：上海市自然科学基金(17ZR1417000);中国输血协会威高科研基金(CSBT-WG-2019-01)。

摘　　要：目的:对我国人群血型ABO亚型的表型与基因型进行关联性研究,以探讨ABO亚型的分布特点及分子背景。方法:采用血清学方法对2014年7月至2019年6月间1545505名献血者和116209例受血者中检出的血型ABO亚型进行表型鉴定,用直接测序或克隆后测序分析ABO基因的DNA序列。结果:血型血清学鉴定在1545505名献血者和116209例受血者中共检出ABO亚型617例,检出率为3.71/万,检出率最高的表型为B(A)(0.066‰),其次是B3(0.045‰)和Bx(0.039‰)。544例ABO亚型样本经基因测序鉴定出42种ABO亚型等位基因,其中ABO*BA.04的检出构成比最高(25.20%),其次为ABO*BA.02(11.55%)和ABO*cis-AB.01(9.71%)。关联分析提示,ABO亚型等位基因所对应的表型可与首次检测的表型不一致,即一种基因型可对应多种表型。结论:中国人群血型ABO亚型检出率为3.71/万,B(A)表型是中国人群中最常检出的ABO亚型,B3和Bx相关的亚型次之;较常检出的亚型等位基因则是ABO*BA.04、ABO*BA.02和ABO*cis-AB.01。Objective:To explore distribution and molecular basis of ABO blood subgroups in Chinese population by analyzing phenotype-genotype correlations of ABO subgroups.Methods:Phenotype investigations were performed using serology studies in 1545505 blood donors and 116209 blood recipients enrolled from April 2014 to June 2019,and the DNA sequence of the ABO gene was analyzed by direct sequencing or sequencing after cloning.Results:Serologic typing revealed that ABO subgroup were detected in 617 individuals,with an overall incidence of 3.71/10000.Subgroup B(A)showed the highest detection rate(0.066‰),and was followed by B3(0.045‰)and Bx(0.039‰).A total of 42 ABO subgroup alleles were identified in 544 individuals by direct sequencing.According to the results of sequencing,ABO*BA.04 was the most common allele,with a constituent ratio of 25.20%,and then ABO*BA.02(11.55%)and ABO*cis-AB.01(9.71%).Correlation analysis revealed that corresponding phenotype of ABO subgroup alleles might differ from result of first testing,which meant a certain genotype could show multiple different phenotypes.Conclusions:Incidence of ABO blood subgroups in Chinese population is 3.71/10000.B(A)subgroup is the most common in Chinese population and followed by B3 and Bxrelated subgroups.The common subgroup alleles are ABO*BA.04,BA.02 and cis-AB.01.

关 键 词：ABO亚型 基因突变 等位基因 

分 类 号：R446.11[医药卫生—诊断学]