安徽省汉族人群HLA-A、-B、-C、-DRB1、-DQB1等位基因分布及单体型多态性研究  

Distribution and haplotype polymorphism of HLA-A、-B、-C、-DRB1、-DQB1 alleles in Anhui Han population

作　　者：王超[1] 胡晓玉[1] 赵阳[1] 於娟[1] 金惠新[1] 魏家余 蒋菲菲[1] 赵娜娜 谷超群 吕蓉[1] WANG Chao;HU Xiaoyu;ZHAO Yang;YU Juan;JIN Huixin;WEI Jiayu;JIANG Feifei;ZHAO Nana;GU Chaoqun;LV Rong(Blood Center of Anhui Province,Hefei 230031,China)

机构地区：[1]安徽省血液中心,安徽合肥230031

出　　处：《中国输血杂志》2021年第3期240-244,共5页Chinese Journal of Blood Transfusion

摘　　要：目的研究安徽省汉族人群HLA-A、-B、-C、-DRB1、-DQB1等位基因和单体型频率分布特征。方法 PCR-测序分型技术(SBT)对3 169例随机无血缘关系的干细胞捐献者进行HLA-A、-B、-C、-DRB1、-DQB1基因分型,利用计数法、最大期望算法和PyPop软件计算等位基因频率、单体型频率和连锁不平衡参数。结果人群共观察到411个HLA等位基因,其中HLA-A、-B、-C、-DRB1、-DQB1分别检出等位基因数量为67、143、65、75和64个。频率>0.1的等位基因有HLA-A*11∶01、A*11∶01、A*24∶02、A*02∶01、C*01∶02、C*07∶02、C*06∶02、DRB1*09∶01、DRB1*15∶01、DRB1*07∶01、DQB1* 03∶01、DQB1* 03∶03、DQB1*02∶01。发现1 426条HLA-A~HLA-B、1 772条HLA-B~HLA-DRB1和798条HLA-B~HLA-C、446条HLA-DRB1~HLA-DQB1单体型,单体型表现有连锁不平衡,其中19条表现为强连锁不平衡(RLD>0.80)。结论获得安徽省汉族人群HLA-A、-B、-C、-DRB1、-DQB1等位基因频率和单体型分布数据,其等位基因和单体型分布特征有其自身的特点。Objective To study the distribution and haplotype polymorphism of HLA-A,-B,-C,-DRB1,-DQB1 alleles in Anhui Han population. Methods The HLA-A,-B,-C,-DRB1 and-DQB1 genotyping of 3 169 random unrelated stem cell donors was performed by PCR-SBT. The allele frequency, haplotype frequency and linkage imbalance parameters were calculated by counting method, maximum expectation algorithm and PyPop software. Results A total of 411 HLA alleles were detected in the population, of which 67, 143, 65, 75 and 64 alleles were detected for HLA-A,-B,-C,-DRB1 and-DQB1, respectively. The alleles with frequency >0.1 were HLA-A*11∶01, A*11∶01, A*24∶02, A*02∶01, C*01∶02, C*07∶02, C*06∶02, DRB1*09∶01, DRB1*15∶01, DRB1*07∶01, DQB1* 03∶01, DQB1* 03∶03, and DQB1*02∶01. 1426 HLA-A~HLA-B, 1 772 HLA-B~HLA-DRB1, 798 HLA-B~HLA-C, and 446 HLA-DRB1~HLA-DQB1 haplotypes were detected. The haplotypes showed linkage imbalance, and 19 of them showed strong linkage imbalance(RLD>0.80). Conclusion The frequency and haplotype distribution of HLA-A,-B,-C,-DRB1 and-DQB1 alleles in Anhui Han population were obtained. The distribution of those alleles and haplotypes have their own characteristics.

关 键 词：HLA 高分辨基因分型 单体型频率 等位基因 

分 类 号：R457.11[医药卫生—治疗学]