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目的研究中国满族人群HLA-A、B、DRB1等位基因和单倍型的多态性。方法根据2 183名满族骨髓捐献者的HLA-A、B、DRB1基因分型数据,采用最大似然性方法计算HLA-A、B、DRB1等位基因和单倍型频率。结果满族人群中共检出18个HLA-A、44个HLA-B和15个HLA-DRB1等位基因,其常见等位基因为A*02、A*11、A*24、A*30、A*33、B*13、B*35、B*46、B*51、B*40(B60)、B*40(B61)、B*15(B62)、DRB1*04、DRB1*07、DRB1*08、DRB1*09、DRB1*11、DRB1*12、DRB1*13、DRB1*14和DRB1*15。A*30-B*13、A*02-DRB1*15、B*13-DRB1*07和A*30-B*13-DRB1*07分别为其最常见A-B、A-DRB1B-DRB1和A-B-DRB1单倍型,31条A-B、24条A-DRB1和27条B-DRB1单倍型频率≥0.01,32条A-B-DRB1单倍型频率≥0.005。14条A-B、3条A-DRB1、14条B-DRB1和38条A-B-DRB1单倍型呈现强连锁不平衡格局(ALD≥0.40)。结论中国满族人群HLA-A、B、DRB1等位基因和单倍型的分布比较接近北方汉族人群并具有其自身分布特点。
Objective To study the polymorphisms of alleles and haplotypes of HLA-A, B and DRB1 in Chinese Manchu population. Methods HLA-A, B, DRB1 alleles and haplotype frequencies were calculated using the maximum likelihood method based on HLA-A, B, DRB1 genotyping data from 2 183 ethnic bone marrow donors. Results A total of 18 HLA-A, 44 HLA-B and 15 HLA-DRB1 alleles were detected in Manchu population. The common alleles were A * 02, A * 11, A * 24, A * 30, A B * 35, B * 46, B * 51, B * 40 B60, B * 40 B61, B * 15 B62, DRB1 * 04, DRB1 * 07, DRB1 * 08, DRB1 * 09, DRB1 * 11, DRB1 * 12, DRB1 * 13, DRB1 * 14 and DRB1 * 15. A * 30-B * 13, A * 02- DRB1 * 15, B * 13- DRB1 * 07 and A * 30- B * 13- DRB1 * 07 are their most common AB, A- DRB1B- DRB1 and AB- DRB1 haplotype, 31 AB, 24 A-DRB1 and 27 B-DRB1 haplotype frequencies ≥ 0.01, 32 AB-DRB1 haplotype frequencies ≥ 0.005, AB AB, 3 A-DRB1, The B-DRB1 and 38 AB-DRB1 haplotypes showed strong linkage disequilibrium pattern (ALD≥0.40). Conclusion The distribution of HLA-A, B, DRB1 alleles and haplotypes in Manchu population of China is close to that of northern Han population and has its own distribution characteristics.