【摘要】 目的分析陕西地区造血干细胞捐献者人类白细胞抗原(HLA)系统基因多态性,并鉴定新的HLA等位基因。方法采用序列特异性引物聚合酶链反应(PCR-SSP)、PCR-序列特异性寡核苷酸探针(SSO)流式微珠检测以及DNA测序(SBT)等HLA基因分型技术检测14006名陕西地区造血干细胞捐献者HLA系统基因多态性。结果14006名无关供者中共检出HLA-A、B、DRB1等位基因(含血清学特异性)分别为18、40、15种,包括很少在汉族人群中检测到的HLA-A25、B42、B53、B73和DR3。HLA-A02、A11、A24、A33、B13、B46、B4001组(B60)、B1501组(B62)、DRB115、DRB109、DRB104、DRB112在陕西人群中有较高的频率分布。并发现了2个新等位基因,已被世界卫生组织命名为HLA-A0290和HLA-B4814。结论为研究本地区群体遗传学以及HLA与疾病相关性等方面提供了数据资料。更多还原

【Abstract】 Objective To analyze the polymorphism of human leukocyte antigen(HLA)-A, B, and DRB1 genes in Shaanxi province, China. Methods Peripheral blood samples were collected from 14 006 unrelated healthy voluntary bone marrow registry donors on Shaanxi province, aged 18-45, with a male to female ratio of nearly 1∶1. Polymerase chain reaction sequence specific primer (PCR-SSP), polymerase chain reaction sequence specific oligonucleotide probes (PCR-SSO), and sequencing-based test (SBT) was used to analyze the polymorphism of HLA-A, B, and DRB1 genes. Results In these 14 006 unrelated donors, 18,40 and 15 HLA alleles were identified on the HLA-A, B, and DRB1 loci respectively, including HLA-A25, B42, B53, B73, and DR3 that were rarely reported in Han population. The gene frequencies of HLA-A*02, A*11, A*24, A*33, B*13, B*46, B*4001 group (B60), B*1501 group (B62), DRB1*15, DRB1*09, DRB1*04, and DRB1*12 were all significantly higher in the Shaanxi population. Two novel alleles were identified and officially assigned by the WHO Nomenclature Committee as A*0290 and B*4814. Conclusion The characteristics of the polymorphism of HLA-A, B, and DRB1 genes in Shaanxi province were established which will be helpful for patients to find matched donors and establish the foundation for further studying population genetics and HLA-related diseases.更多还原