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目的检测中华骨髓库湖南分库岳阳市汉族造血干细胞捐献志愿者HLA-DRB1高分辨基因型,了解其基因频率和基因多态性分布特点。方法采用DNA序列测定的分型技术,对1 381名汉族志愿者进行HLA-DRB1高分辨基因分型。结果检出236种HLA-DRB1基因型,主要基因型为0901/0901(4.63%)、0901/0803(4.42%)、0901/1202(4.42%)、0901/1501(4.27%),基因型的分布符合Hardy-Weinberg平衡定律。检出43种HLA-DRB1等位基因,前5位依次为DRB1*0901(19.41%)、DRB1*1501(10.79%)、DRB1*1202(8.98%)、DRB1*0803(7.49%)、DRB1*0405(5.47%),前5位等位基因频率分布与中华骨髓库湖北分库汉族人群比较,差异无统计学意义;与中华骨髓库北方汉族人群比较,差异有统计学意义。结论本资料从高分辨基因分型水平反映了岳阳汉族人群HLA-DRB1的分布情况,对指导HLA-DRB1与疾病的预测和预防、临床寻找HLA匹配的无关造血干细胞捐献者和我国人群群体遗传性研究等有重要意义。
Objective To detect the HLA-DRB1 high-resolution genotypes of Han nationality hematopoietic stem cell donors from the Hunan Bone Marrow Bank in Hunan Sub-base to understand the gene frequency and gene polymorphism distribution. Methods HLA-DRB1 high-resolution genotyping was performed in 1 381 Chinese Han volunteers using DNA sequencing. Results The 236 HLA-DRB1 genotypes were detected. The main genotypes were 0901/0901 (4.63%), 0901/0803 (4.42%), 0901/1202 (4.42%) and 0901/1501 (4.27% Distribution in line with Hardy-Weinberg equilibrium law. 43 HLA-DRB1 alleles were detected in the top five loci, including DRB1 * 0901 (19.41%), DRB1 * 1501 (10.79%), DRB1 * 1202 (8.98%), DRB1 * 0803 0405 (5.47%). There was no significant difference in the frequency distribution of the first 5 alleles between Han nationality population of Hubei China Bone Marrow Bank and that of Hubei Margin of China Marrow Bank. The difference was statistically significant compared with Han Chinese population of North China Marrow Bank. Conclusion This data reflects the distribution of HLA-DRB1 from high-resolution genotyping in Yueyang Han population, the prediction and prevention of HLA-DRB1 and disease, the clinical search for HLA-matched unrelated hematopoietic stem cell donors and the population heritability in Chinese population Research is of great significance.