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.
作者
王超
胡晓玉
赵阳
於娟
金惠新
魏家余
蒋菲菲
赵娜娜
谷超群
吕蓉
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)
出处
《中国输血杂志》
CAS
2021年第3期240-244,共5页
Chinese Journal of Blood Transfusion
