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目的分析安徽汉族人群中人类白细胞抗原(HLA)-A、B、DRB1基因和单倍型的分布特征。方法根据2816例安徽汉族无关骨髓供者的HLA基因型数据,分别采用方根法和最大似然性方法计算HLA-A、B、DRB1基因频率和单倍型频率,并进行群体比较。结果安徽汉族中共检出78个HLA基因,其中A*02、A*11、A*24、A*33、A*30、B*13、B*46、B60、B62、B*58、B61、DRB1*09、DRB1*15、DRB1*04、DRB1*07、DRB1*12、DRB1*08、DRB1*13、DRB1*11和DRB1*14最常见。440条A-B单倍型和481条B-DR单倍型中,A2-B46、A30-B13等26条A-B单倍型以及B13-DR7、B46-DR9等27条B-DR单倍型最常见;另外,至少80条A-B单倍型和102条B-DR单倍型呈现显著的正连锁不平衡,其中A2-B46、A30-B13、A33-B58、A33-B44、A2-B38等17条A-B单倍型以及B13-DR7、B46-DR9、B58-DR17、B44-DR13、B54-DR4、B52-DR15、B58-DR3、B57-DR7等18条B-DR单倍型表现为强连锁不平衡。3488条A-B-DR单倍型中,537条A-B-DR单倍型的频率大于等于3.55×10-4,A30-B13-DR7和A2-B46-DR9等27条单倍型频率高于0.005。结论安徽汉族人群HLA-A、B、DR基因和单倍型的分布比较接近中国北方汉族人群,但一定程度上受到南方汉族人群的影响。
Objective To analyze the distribution of human leukocyte antigen (HLA) -A, B, DRB1 genes and haplotypes in Anhui Han population. Methods According to HLA genotype data of 2816 non-related myeloid donors in Anhui Han population, HLA-A, B and DRB1 gene frequencies and haplotype frequencies were calculated by square root method and maximum likelihood respectively. Results A total of 78 HLA genes were detected in Anhui Han nationality. Among them, A * 02, A * 11, A * 24, A * 33, A * 30, B * 13, B * 46, B60, B62, B * 58, B61, DRB1 * 09, DRB1 * 15, DRB1 * 04, DRB1 * 07, DRB1 * 12, DRB1 * 08, DRB1 * 13, DRB1 * 11 and DRB1 * 14 are the most common. Of the 440 AB haplotypes and 481 B-DR haplotypes, 26 AB haplotypes such as A2-B46 and A30-B13 and 27 B-DR haplotypes such as B13-DR7 and B46-DR9 were the most common In addition, at least 80 AB haplotypes and 102 B-DR haplotypes showed significant positive linkage disequilibrium. Among them, 17 were A2-B46, A30-B13, A33-B58, A33-B44 and A2-B38 AB haplotype and 18 B-DR haplotypes such as B13-DR7, B46-DR9, B58-DR17, B44-DR13, B54-DR4, B52-DR15, B58-DR3, B57- balance. Among 3488 A-B-DR haplotypes, 537 A-B-DR haplotype frequencies were greater than or equal to 3.55 × 10-4, and 27 haplotype frequencies such as A30-B13-DR7 and A2-B46-DR9 were higher than 0.005. Conclusion The distribution of HLA-A, B, DR genes and haplotypes in Anhui Han population is closer to the Han population in northern China, but to some extent, it is affected by the Han population in southern China.