2 210例江西籍汉族骨髓供者的HLA-A、B、DRB1等位基因和单倍型频率

目的分析江西汉族骨髓供者人类白细胞抗原(HLA)-A、B、DRB1等位基因频率和HLA单倍型频率。方法根据2210例江西汉族无关骨髓供者的HLA基因型数据,采用最大似然性方法计算HLA-A、B、DRB1的基因频率和单倍型频率。结果江西汉族骨髓供者中共观察到72个HLA等位基因,其中A*02、A*11、A*24、A*33、B60、B*46、B*13、B*58、B*51、B75、B62、DRB1*09、DRB1*12、DRB1*15、DRB1*04、DRB1*08、DRB1*11、DRB1*14和DRB1*13的频率高于0.05。358条A-B单倍型中,A2-B46、A11-B60、A33-B58等26条单倍型的频率高于0.01,68条单倍型表现为显著的正连锁不平衡;420条B-DR单倍型中,B46-DR9、B13-DR15、B75-DR12等22条单倍型频率高于0.01,82条单倍型表现为显著的正连锁不平衡;2518条A-B-DR单倍型中,386条单倍型有意义(频率大于等于4.52×10-4),A2-B46-DR9、A2-B46-DR8、A11-B13-DR15、A33-B58-DR13、A33-B58-DR17、A30-B13-DR7等39条单倍型频率高于0.005。结论江西汉族HLA-A、B、DRB1等位基因和HLA单倍型的分布特征接近南方汉族人群,但又有其自身特殊性,本研究群体的HLA等位基因频率和单倍型频率可作为江西汉族人群的参考标准。

Allele and Haplotype Frequencies for the Loci HLA-A,B and DRB1 in 2 210 Jiangxi Chinese Han Unrelated Bone Marrow Donors

Objective To analyse the human leukocyte antigen(HLA)-A, B, DRB1 allele and haplotype frequencies in Jiangxi Chinese Han unrelated bone marrow donors.Methods Frequencies of HLA-A,B,DRB1 allele and haplotype were calculated by maximum likelihood estimator method,which based on the genotype data of 2 210 Jiangxi Han unrelated bone marrow donors.Results A total of 72 HLA alleles were observed in Jiangxi Han bone marrow donors and the most frequent were A*02, A*11, A*24, A*33, B60, B*46, B*13, B*58, B*51, B75,B62,DRB1*09,DRB1*12, DRB1*15, DRB1*04, DRB1*08, DRB1*11, DRB1*14 and DRB1*13. Among 358 kinds of A-B haplotype, there were 26 kinds included A2-B46, A11-B60 and A33-B58 with frequency higher than 0.01,and 68 kinds with statistically significant and positive linkage disequilibrium. Moreover, among 420 kinds of B-DR haplotype, there were 22 haplotypes included B46-DR9, B13-DR15 and B75-DR12 with frequency higher than 0.01,and 82 haplotypes with statistically significant and positive linkage disequilibrium. Only 386 kinds of A-B-DR haplotype were informative with frequency higher than or equal to 4.52 per 10 000 in 2 518 haplotypes, and a total of 39 kinds of A-B-DR haplotype included A2-B46-DR9, A2-B46-DR8, A11-B13-DR15, A33-B58-DR13,A33-B58-DR17 and A30-B13-DR7 were the most frequent with frequency higher than 0.005.Conclusion Distribution of HLA-A,B,DRB1 alleles and haplotypes in Jiangxi Chinese Han is relatively closed to Southern Chinese Han population and also showed its own characterization. The frequencies of HLA allele and haplotype from this study may be served as the reference standard for Jiangxi Chinese Han.