HLA-B和-DRB1、HLA-DQB1和-DPB1座位基因重组的分析  

Analysis of Gene Recombination between HLA-B and-DRB1, HLADQB1 and-DPB1 Loci

作　　者：陈晨[1,2,3] 王炜 陈男英[2,3] 董丽娜 章伟[2,3] 朱发明 CHEN Chen;WANG Wei;CHEN Nan-Ying;DONG Li-Na;ZHANG Wei;ZHU Fa-Ming(Schoo of Medical Technology and Informnation Engineering,Zhejiang Chinese Medical Universiry,Hangzhou 310053,Zhejiang Province,China;Blood Center of Zhejiang Province,Hangzhou 310052,Zhejiang Province,China;Key Laboratory of Blood Safery:Research of Zhejiang Province,Hangzhou 310052,Zhejiang Province,China)

机构地区：[1]浙江中医药大学医学技术与信息工程学院,浙江杭州310053 [2]浙江省血液中心,浙江杭州310052 [3]浙江省血液安全研究重点实验室,浙江杭州310052

出　　处：《中国实验血液学杂志》2023年第3期855-859,共5页Journal of Experimental Hematology

基　　金：浙江省医药卫生科学研究基金(2022KY733);浙江省医药卫生科学研究基金(2021KY138);浙江省医药卫生科学研究基金(2021KY651);浙江省血液中心科学研究基金(ZJB202203)。

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。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.

关 键 词：人类白细胞抗原(HLA) 基因重组 二代测序 HLA-B和HLA-DRB1座位 HLA-DQB1和HLA-DPB1座位 

分 类 号：R392[医药卫生—免疫学]