摘要目的 分析江苏7地市汉族造血干细胞捐献志愿者人类白细胞抗原(HLA)-DRB1位点的基因频率,研究比较该7地市人群HLA-DRB1基因多态性.方法 采用聚合酶链反应-直接测序分型(PCR-SBT)和聚合酶链反应-反向序列特异性寡核苷酸探针(PCR-rSSOP)基因分型技术,对中华骨髓库江苏分库2787名无关供者的HLA-DRB1位点进行高分辨分型,分别计算并比较各地市HLA-DRB1基因频率.结果 淮安、徐州、泰州、宿迁、南京、常州、扬州HLA-DRB1位点分别检出等位基因38、33、26、36、37、31、26个.在淮安、徐州、宿迁,频率最高的HLA-DRB1等位基因分别是DRB1*07:01、09:01、15:01、12:02.在南京,频率最高的HLA-DRB1等位基因分别是DRB1*09:01、07:01、15:01、12:02.在扬州,频率最高的HLA-DRB1等位基因分别是DRB1*09:01、07:01、15:01、08:03.在泰州,频率最高HLA-DRB1等位基因是DRB1*09:01、07:01、04:05、15:01;在常州,频率最高的HLA-DRB1等位基因是DRB1*09:01、07:01、12:02、08:03.结论 本资料反映了江苏7地市汉族人群HLA-DRB1基因分布,具有丰富的多态性,其中南京、扬州基因频率相近最接近中国北方群体的特征.淮安、徐州、宿迁、常州、泰州5地市相近,除了DRB1*09:01、07:01两高频基因频率有所差异外也接近中国北方.本研究为HLA与疾病相关研究和我国人群群体遗传学研究等提供有意义的基础性资料.

abstractsObjective To investigate the frequencies of human leukocyte antigen ( HLA)-DRB1 alleles of Chinese Marrow Donor Program (CMDP) donors in seven markets of Jiangsu Han population. Methods 2787 donors from CMDP Jiangsu Branch were typed in HLA-DRB1 locus using polymerase chain reaction-sequence-based typing (PCR-SBT) method or polymerase chain reaction-reverse sequence specific oligonucleotide probes (PCR-rSSOP) method. Frequencies of HLA-DRB1 were separately calculated in seven markets and a comparison was made among them. Results A total of 38,33,26,36,37,31,26 alleles in DRB1 locus were separately found in Huai-an, Xuzhou, Taizhou, Suqian, Nanjing, Changzhou, Yangzhou population. The most frequent HLA-DRB1 alleles in Huai-an, Xuzhou, Suqian respectively were DRB1 * 07:01, 09:01, 15:01,12:02; In Nanjing and were DRB1 * 09:01,07:01, 15:01, 12:02; In Yangzhou were DRB1 * 09:01,07:01,15:01,08:03; In Taizhou were DRB1 *09:01, 07:01, 04:05, 15:01; In Changzhou were DRB1 *09:01,07:01, 12:02, 08:03. Conclusion The above results reflected the distribution of HLA-DRB1 alleles in seven markets of Jiangsu Han population, which held abundant polymorphism, and a certain uniqueness in every market. The HLA-DRB1 allele distribution of Nanjing, Yangzhou were the closest groups to northern China, Huaian, Xuzhou, Suqian, Changzhou, Taizhou were close to northern China except DRB1 * 09:01,07:01 in different frequencies. These findings could guide the selection of future donor in CMDP Jiangsu Branch. It also could serve as foundation for HLA related disease research, studies of population genetics and anthropology in Chinese Han population.