【摘要】 目的：统计分析来自中华骨髓库江苏分库七地市汉族造血干细胞志愿者常见人类白细胞抗原（human leukocyte antigen,HLA）单倍型频率，了解江苏七地市汉族人群HLA单倍型分布特点。方法：采用聚合酶链反应-直接测序分型（polymerase chain reaction-sequence based typing,PCR-SBT）技术，对中华骨髓库江苏分库共计11 889例无血缘关系志愿者的HLAA/B/DR B1/C/DQB1位点进行高分辨分型，按地市应用Arlequin 3.5软件分别计算单倍型HLA-A-B-C、DRB1-DQB1、A-B-DRB1、A-B-DRB1-C-DQB1的频率，统计分析各地市常见HLA单倍型，并与国内已发表汉族人群数据进行比较，基于等位基因频率，采用Hierarchical Clustering算法应用SPSS软件进行聚类分析。结果：HLA-A-B-C单倍型中，A*30∶01-B*13∶02-C*06∶02、A*33:03-B*58∶01-C*03∶02为江苏七地市频率最高的前2位单倍型。聚类分析发现，南京、扬州、常州、镇江聚为一类，宿迁、淮安、徐州聚为一类。HLA-DRB1-DQB1单倍型中，宿迁、淮安、徐州最常见的单倍型为DRB1*07∶01-DQB1*02∶02,DRB1*09∶01-DQB1*03∶03次之；常州、扬州、镇江、南京最常见的单倍型为DRB1*09∶01-DQB1*03∶03,DRB1*07∶01-DQB1*02∶02次之。聚类分析发现，江苏七地市聚为一类。A*30∶01-B*13∶02-DRB1*07∶01为江苏七地市频率最高的HLA-A-B-DRB1单倍型；A*33∶03-B*58∶01-DRB1*03∶01为南京、扬州、淮安、常州排名第二位的单倍型。聚类分析发现，南京、扬州、常州、黑龙江、辽宁聚为一类，淮安、宿迁、徐州聚为一类。江苏七地市频率最高的HLA-A-B-DRB1-C-DQB1单倍型均为A*30∶01-B*13∶02-DRB1*07∶01-C*06∶02-DQB1*02∶02，其中含有A*30∶01-B*13∶02-DRB1*07∶01单倍型（包括3个点及5个点）的频率在江苏七地市由北向南大体呈现逐渐降低的趋势。聚类分析发现常州、徐州、南京聚为一类，后与镇江聚为一类；淮安、宿迁聚为一类，后与徐州聚为一类；岳阳、浙江、广东聚为一类。结论：总体来看，苏北三地市（宿迁、淮安、徐州）聚为一类，其余四地市聚为一类，江苏七地市汉族人群HLA单倍型多态性与我国南北方相比更偏向我国北方人群。更多还原

【Abstract】 Objective:To investigate the distribution characteristics of common human leukocyte antigen(HLA)haplotypes in Han population in Chinese Marrow Donor Program(CMDP)Jiangsu Branch from 7 prefecture-level cities in Jiangsu Province. Methods:In this study,11 889 volunteers from CMDP Jiangsu Branch were genotyped at HLA-A/B/DRB1/C/DQB1 loci using PCR-SBT method.HLA haplotypes frequencies of HLA-A-B-C,DRB1-DQB1,A-B-DRB1,A-B-DRB1-C-DQB1 were separately calculated using Arlequin3.5 from 7 prefecture-level cities in Jiangsu Province,the common HLA haplotypes were statistically analyzed and compared with the published data of Han population in China. The clustering analysis between different populations was conducted by hierarchical clustering method with SPSS software. Results:In the HLA-A-B-C haplotypes,A*30∶01-B*13∶02-C*06∶02 and A*33∶03-B*58∶01-C*03∶02 were the top two common haplotypes in 7 prefecture-level cities of Jiangsu Province. The clustering analysis showed that Nanjing,Yangzhou,Changzhou and Zhenjiang were clustered,and Suqian,Huai’an and Xuzhou were clustered. The top two common haplotypes in HLA-DRB1-DQB1 haplotypes were DRB1*07∶01-DQB1*02∶02 DRB1*09∶01-DQB1*03∶03 in Suqian,Huai’an and Xuzhou,and DRB1*09∶01-DQB1*03∶03,DRB1*07∶01-DQB1*02∶02 were the top two common haplotypes in Changzhou,Yangzhou,Zhenjiang and Nanjing. The clustering analysis showed that 7 prefecture-level cities in Jiangsu Province were clustered into one group.Among the HLA-A-B-DRB1 haplotypes,A*30∶01-B*13∶02-DRB1*07∶01 was the most frequent haplotype in 7 prefecture-level cities of Jiangsu Province,and A*33∶03-B*58∶01-DRB1*03∶01 was the second frequent A-B-DRB1 haplotype in Nanjing,Yangzhou,Huai’an and Changzhou. The clustering analysis showed that Nanjing,Yangzhou,Changzhou,Heilongjiang and Liaoning were clustered,and Huai’an,Suqian and Xuzhou were clustered. The most frequent HLA-A-B-DRB1-C-DQB1 haplotype was A*30∶01-B*13∶02-DRB1*07∶01-C*06∶02-DQB1*02∶02 in 7 prefecture-level cities of Jiangsu Province,and the frequency of the haplotypes that containing A*30∶01-B*13∶02-DRB1*07∶01 gradually decreased from north to south in Jiangsu Province. The clustering analysis showed that Changzhou,Xuzhou and Nanjing were clustered together,and then clustered with Zhenjiang. Huai’an and Suqian were clustered together,and then clustered with Xuzhou. Yueyang,Zhejiang and Guangdong were clustered together. Conclusion:On the whole,the three prefecture-level cities in Northern Jiangsu(Suqian,Huai’an and Xuzhou)are clustered together,and the other 4 cities are clustered together. The HLA haplotype polymorphism in Han population from 7 prefecture level cities of Jiangsu Province is more biased to the Northern China than the Southern China.更多还原