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目的分析2 504例汉族人群HLA-A、B、C、DRB1和DQB1高分辨等位基因多态性及分布特征。方法采用基于Illumina Miseq二代测序技术,对岳阳地区2 504例汉族造血干细胞捐献志愿者的HLA-A、B、C、DRB1和DQB1基因进行高分辨分型,采用Py Pop软件计算等位基因频率、单体型频率核对连锁不平衡参数。结果 HLA-Ⅰ类基因中,A、B和C基因座分别检出55、117和67个等位基因,其中频率>0.05常见等位基因为A*11:01:01:01、A*24:02:01:01、A*02:07:01、A*02:01:01:01、A*33:03:01,B*40:01:02、B*58:01:01、B*15:02:01、B*13:01:01、B*46:01:01、C*03:03:01、C*03:02:02:01、C*08:01:01、C*03:04:01:02、C*07:02:01:01、C*01:02:01;HLA-Ⅱ类基因中,共检出50个DRB1和26个DQB1等位基因,频率>0.05常见等位基因见于DRB1*11:01:01、DRB1*08:03:02、DRB1*12:02:01、DRB1*15:01、DRB1*09:01:02,DQB1*03:01:01、DQB1*03:02:01、DQB1*03:03:02、DQB1*05:02:01、DQB1*06:01:01。HLA-A、B、C、DRB1和DQB1位点基因型分布符合Hardy-Weinberg平衡(P>0.05)。任意2个HLA基因间均具有强的连锁不平衡,其中频率≥0.01有统计学意义的单体型有196条。结论获得了岳阳地区汉族人群HLA-A、B、C、DRB1和DQB1高分辨等位基因频率数据,为人类学、移植配型、疾病相关性等研究提供了参考数据。
Objective To analyze the polymorphism and distribution of HLA-A, B, C, DRB1 and DQB1 high-resolution alleles in 2 504 Han Chinese population. Methods The HLA-A, B, C, DRB1 and DQB1 genes of 2 504 Han donors who were donated by Han hematopoietic stem cells in Yueyang district were genotyped using Illumina Miseq second-generation sequencing. The allele frequencies were calculated by Py Pop software , Haplotype frequency check linkage imbalance parameters. Results There were 55, 117 and 67 alleles in A, B and C loci of HLA-Ⅰ genotypes, respectively. The common alleles with frequency> 0.05 were A * 11: 01: 01: 01 and A * 24 : 02: 01: 01, A * 02: 07: 01, A * 02: 01: 01: 01, A * 33: 03: 01, B * 40: 01: 02, B * 58: 01: 01, B * 15: 02: 01, B * 13: 01: 01, B * 46: 01: 01, C * 03: 03: 01, C * 03: 02: 02: 01, C * 08: 01: 01, C There were 50 DRB1 and 26 DQB1 alleles were detected in HLA-Ⅱ class genotypes at frequency> 0.05 Common alleles are found in DRB1 * 11: 01: 01, DRB1 * 08: 03: 02, DRB1 * 12: 02: 01, DRB1 * 15: 01, DRB1 * 09: 01: 02, DQB1 * 03: 01: 01, DQB1 * 03: 02: 01, DQB1 * 03: 03: 02, DQB1 * 05: 02: 01, DQB1 * 06: 01: 01. The distribution of HLA-A, B, C, DRB1 and DQB1 loci was in accordance with Hardy-Weinberg equilibrium (P> 0.05). There was a strong linkage disequilibrium between any two HLA genes, of which there were 196 haplotypes with frequency≥0.01. Conclusion High frequency alleles of HLA-A, B, C, DRB1 and DQB1 are obtained in Yueyang Han population, which provide reference data for anthropology, transplantation matching and disease-related studies.