安徽汉族HLA-A、B、DRB1基因多态性和单倍型的分布特征

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。

Characteristic and Distribution of Human Leukocyte Antigen-A,B,DRB1 Genes and Haplotypes in Anhui Chinese Han Population

Objective To analyse the distributive characteristic of human leukocyte antigen(HLA) -A, B, DRB1 genes and haplotypes for Anhui Chinese Han population. Methods Frequencies of HLA-A,B,DRB1 genes and haplotypes which based on 2 816 unrelated bone marrow donors from Anhui were calculated by square root method and maximum likelihood estimator method respectively, and then compared with other population.Results A total of 78 HLA alleles or antigens were observed and the most frequent were 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 in Anhui Chinese Han population. There were 26 kinds of haplotypes included A2-B46 and A30-B13 with frequency higher than 0.01 among 440 kinds of A-B haplotypes;whereas 27 kinds of haplotypes included B13-DR7 and B46-DR9 among 481 kinds of B-DR haplotypes. Additionally, at least 80 kinds of A-B haplotypes and 102 kinds of B-DR haplotypes were statistically significant and positive linkage disequilibrium respectively, and among them,there were 17 kinds of strong linkage disequilibrium A-B haplotypes mainly included A2-B46, A30-B13, A33-B58, A33-B44 and A2-B38, whereas, 18 kinds of strong linkage disequilibrium B-DR haplotypes mainly included B13-DR7, B46-DR9, B58-DR17, B44-DR13, B54-DR4, B52-DR15, B58-DR3 and B57-DR7. The numbers of haplotypes with frequency higher than or equal to 3.55 per 10 000 were 537 in 3 488 kinds of A-B-DR haplotypes, and 27 kinds of haplotypes included A30-B13-DR7 and A2-B46-DR9 were the most common haplotypes with frequency higher than 0.005.Conclusion Distribution of HLA-A, B,DRB1 genes and haplotypes in Anhui Chinese Han population is relatively closed to Northern Chinese Han population, but impressed by Southern Chinese Han to a certain extent.