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第42卷第10期 南京医科大学学报(自然科学版)
2022年10月 Journal of Nanjing Medical University(Natural Sciences) ·1387 ·
·基础医学·
江苏七地市汉族人群常见 HLA单倍型多态性分析
潘芹芹,马 骁,樊 甦,王晓艳,尤雅洁,沈 捷 *
南京医科大学第一附属医院HLA实验检测中心,江苏 南京 210029
[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(poly⁃
merase 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HLA⁃
A/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。
[关键词] 人类白细胞抗原;单倍型频率;聚类分析;江苏七地市
[中图分类号] R392.2 [文献标志码] A [文章编号] 1007⁃4368(2022)10⁃1387⁃07
doi:10.7655/NYDXBNS20221006
Polymorphism analysis of common HLA haplotype in Han population from 7 prefecture ⁃
level cities of Jiangsu Province
PAN Qinqin,MA Xiao,FAN Su,WANG Xiaoyan,YOU Yajie,SHEN Jie *
Department of HLA Lab,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China
[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 Arlequin
3.5 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
[基金项目] 中华骨髓库课题(CMDP201909)
∗
通信作者(Corresponding author),E⁃mail:shenjie@njmu.edu.cn