【摘要】 目的：探讨2个家系人类白细胞抗原(HLA)座位的重组情况。方法：采集家系成员的外周血，提取基因组DNA，采用聚合酶链反应-序列特异性寡核苷酸探针技术(PCR-SSO)和二代测序技术检测HLA-A、-B、-C、-DRB1、-DQB1和-DPB1座位，通过家系遗传分析确定个体HLA单体型。结果：家系1中单体型HLA-A*11:01～C*03:04～B*13:01～DRB1*12:02～DQB1*03:01～DPB1*05:01:01G与HLA-A*03:01～C*04:01～B*35:03～DRB1*12:01～DQB1*03:01～DPB1*04:01:01G在HLA-B和HLA-DRB1座位间进行了交换，形成HLA-A*11:01～C*03:04～B*13:01～DRB1*12:01～DQB1*03:01～DPB1*04:01:01G。家系2中单体型HLA-A*02:06～C*03:03～B*35:01～DRB1*08:02～DQB1*04:02～DPB1*13:01:01G与HLA-A*11:01～C*07:02～B*38:02～DRB1*15:02～DQB1*05:01～DPB1*05:01:01G在HLA-DQB1和HLA-DPB1座位间进行了交换，形成HLA-A*02:06～C*03:03～B*35:01～DRB1*08:02～DQB1*04:02～DPB1*05:01:01G。结论：2个中国汉族人群家系分别发生了HLA-B和-DRB1、HLA-DQB1和-DPB1座位间的基因重组。更多还原

【Abstract】 Objective:To investigate the recombinations within the human leukocyte antigen (HLA) region in two families.Methods:Genomic DNA was extracted from the peripheral blood specimens of the different family members.HLA-A,-B,-C,-DRB1,-DQB1 and-DPB1 loci were genotyped using polymerase chain reaction-sequence specific oligonucleotide probing technique (PCR-SSO) and next-generation sequencing technique.HLA haplotype was determined by genetic analysis of the pedigree.Results:The haplotypes of HLA-A*11:01～C*03:04～B*13:01～DRB1*12:02～DQB1*03:01～DPB1*05:01:01G and HLA-A*03:01～C*04:01～B*35:03～DRB1*12:01～DQB1*03:01～DPB1*04:01:01G in the family 1 were recombined between HLA-B and HLA-DRB1 loci,which formed the haplotype of HLA-A*11:01～C*03:04～B*13:01～DRB1*12:01～DQB1*03:01～DPB1*04:01:01G.The haplotypes of HLA-A*02:06～C*03:03～B*35:01～DRB1*08:02～DQB1*04:02～DPB1*13:01:01G and HLA-A*11:01～C*07:02～B*38:02～DRB1*15:02～DQB1*05:01～DPB1*05:01:01G in the family 2 were recombined between HLA-DQB1 and HLA-DPB1 loci,which formed the haplotype of HLA-A*02:06～C*03:03～B*35:01～DRB1*08:02～DQB1*04:02～DPB1*05:01:01G.Conclusion:The gene recombination events between HLA-B and-DRB1,HLA-DQB1 and-DPB1 loci were found respectively in two Chinese Han families.更多还原