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.
题目: HLA-B和-DRB1、HLA-DQB1和-DPB1座位基因重组的分析.
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。.
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