岳阳地区汉族人群HLA-A、-B、-DRB1高分辨等位基因多态性研究

目的研究岳阳地区汉族人群HLA-A、B、DRB1等位基因多态性的分布特征。方法应用聚合酶链反应-直接测序分型(polymerase chain reaction sequence-based typing,PCR-SBT)高分辨技术,对岳阳地区3 560名无血缘关系的汉族人群HLA-A、-B、-DRB1进行基因分型。结果检出HLA-A、-B、-DRB1等位基因分别有53、89、53种,经统计分析这3个基因座分布均符合Hardy-Weinberg平衡定律。A*0207-B*4601-DRB1*0901和A*3303-B*5801-DRB1*0301单体型是岳阳地区汉族人群最常见单体型。结论岳阳地区汉族人群HLA-A、-B、-DRB1基因分布具有高度的遗传多态性并有其自身分布特点,中国各地常见的基因及罕见基因均有分布。

Study on the Polymorphism of HLA-A, -B and -DRB1 High-resolution Alleles in Yueyang Han Population

Objective To analyze the characteristics of the distribution of HLA A, - B and - DRB1 alleles in Han pop- ulation in Yueyang area. Methods HLA- A, - B and - DRB1 genotypes of 3,560 unrelated healthy blood stem cell donors in Yueyang area were determined by polymerase chain reaction sequence- based typing （PCR - SBT） high - resolution tech- nique. The frenquencies of alleles and haplotypes were calculated. Results Totally, 53 HLA- A alleles, 89 HLA- B alleles and 53 HLA- DRB1 alleles were detected. Statistical analysis revealed that the distribution of the three loci all conformed with Hardy- Weinberg equilibrium. A ＊0207 - B ＊＊ 4601 DRB1 ＊ 0901 and A＊3303 - B ＊5801 - DRB1 ＊0301 were the most popular haplotypes in Han population in Yueyang area. Conclusions The distribution of HLA- A, B and - DRB1 genes in Yueyang Hart population has high genetic polymorphism and its own characteristics. All common and rare genotypes in China can be found in this area.