湖北造血干细胞骨髓库HLA-A及B和DRB1基因多态性分布

Distribution of polymorphism of HLA-A,B and DRB1 genes in the Hubei registry of the CMDP

目的:调查湖北省造血干细胞分库HLA-A、B、DRB1位点等位基因频率及单体型分布特征。方法:根据中国骨髓库组织配型实验室规程,采用PCR-SSP、PCR-SSO检测20979名湖北分库造血干细胞捐献者HLA-A、B、DRB1基因型;采用最大数学预期值算法计算HLA基因和单体型频率,分析本库群体调查结果,统计相关遗传参数。结果:20979例造血干细胞捐献者中,共验出77种HLA基因型,455条HLA-A-B单体型,457条HLA-B-DRB1单体型,2866条HLA-A-B-DRB1单体型。其中频率大于0.1的基因型有A02、A11、A24、B46、B60、B13、DR09、DR15、DR04、DR12,频率大于0.01的HLA-A-B、HLA-B-DRB1、HLA-A-B-DRB1单体型分别有23、22、5条。有88条HLA-A-B和9条HLA-B-DRB1单体型呈现显著的连锁不平衡,其中有7条HLA-A-B和2条HLA-B-DRB1单体型呈现强连锁不平衡。结论:湖北省造血干细胞库HLA-A-B-DRB1基因和单体型多态性分布具有本库群体特点,其频率分布和相关遗传参数为临床移植供受对的选择提供了数据参考。

Objective：To investigate the frequency distribution of HLAA, B and DRB1 alleles and haplotypes in the Hubei registry of the CMDP. Method： HLA-A, B and DRB1 genes of the 20 979 donors were genotyped by PCR-SSP and PCR-SSO based on the procedure of Tissue Matching Laboratory of CMDP;HLA genes and hapiotype frequencies were calculated by method of Expectation Maximization; and genetic parameters were analyzed. Result.. A total of 77 HLA alleles, 455 HLA-A B haplotypes, 457 HLA B-DRB1 haplotypes and 2 866 HLA-A-B-DRB1 were observed in which the frequencies of A02, All, A24, I346, I360, B13, I）R09, DR15, DR04 and DR12 genes were greater than 0.1 and the frequencies of 23 HLA-A-B, 22 HLA-B-DRB1 and 5 HLA-A-N-DRB1 haplotypes were greater than 0.01. 88 HLA AB and 9 HLA-B-DRB1 haplotypes showed significant linkage disequilibrium in which 7 HLA AB and 2 HI.A-B DRB1 haplotypes showed strong linkage disequilibrium. Conclusion： The distribution of polymorphism of HLA-A, B and DRB1 genes in the Hubei registry of the CMDP had features of the library groups. The frequency distribution and genetie parameters would support references for donor selection of clinical transplantation.