摘要
目的 调查中国北方汉族人群HLA-DQA1、-DQB1、 HLA-DPA1、-DPB1等位基因多态性。方法 选取2016年中华骨髓库造血干细胞志愿者1 004人的外周血样,采用第2代测序方法(next generation sequence,NGS)进行HLA-DQA1、-DQB1、HLA-DPA1、-DPB1等位基因分型。结果 1 004人份样本中,共检出24种HLA-DQA1、20种HLADQB1、12种HLA-DPA1、40种HLA-DPB1等位基因。各位点频率较高的前3种等位基因依次为HLA-DQA1^(*)01:02:01(15.2%),HLA-DQA1^(*)03:02:01(15.2%),HLA-DQA1^(*)05:05:01(8.0%);HLA-DQB1^(*)03:01:01 (19.0%),HLA-DQB1^(*)03:03:02(16.2%),HLA-DQB1^(*)05:02:01(11.2%);HLA-DPA1^(*)02:02:02(52.2%),HLA-DPA1^(*)01:03:01(33.0%),HLA-DPA1^(*)02:01:01(10.3%);HLA-DPB1^(*)05:01:01(37.0%),HLA-DPB1^(*)02:01:02(17.6%),HLA-DPB1^(*)04:01:01(10.0%)。HLA-DQA1、-DQB1和HLA-DPA1、-DPB1之间的单体型存在连锁不平衡。结论 获得北方汉族人群HLADQA1、-DQB1和HLA-DPA1、-DPB1等位基因多态性数据和单体型数据,可为器官移植、群体遗传学和疾病关联研究等提供重要参考数据。
Objective To explore the allele polymorphisms of HLA-DQA1,-DQB1 and HLA-DPA1,-DPB1 among Han population in Northern China.Methods The peripheral blood samples of hematopoietic stem cell from 1 004volunteers in 2016 China Bone Marrow Bank were selected,and the allelic typing of HLA-DQA1,HLA-DQB1,HLADPA1 and HLA-DPB1 were sequenced and categorized by the next generation sequence(NGS) method.Results A total of 24 HLA-DQA1 alleles,20 HLA-DQB1 alleles,12 HLA-DPA1 alleles and 40 HLA-DPB1 alleles were detected in 1 004serum samples.The first three alleles with high frequency were HLA-DQA1~*01:02:01(15.2%),HLA-DQA1~*03:02:01(15.2%),HLA-DQA1~*05:05:01(8.0%);HLA-DQB1~*03:01:01(19.0%),HLA-DQB1~*03:03:02(16.2%),HLA-DQB1~*05:02:01(11.2%);HLA-DPA1~*02:02:02(52.2%),HLA-DPA1~*01:03:01(33.0%),HLA-DPA1~*02:01:01(10.3%);HLA-DPB1~*05:01:01(37.0%),HLA-DPB1~*02:01:02(17.6%),HLA-DPB1~*04:01:01(10.0%).Linkage disequilibrium was found between HLA-DQA1 and-DQB1,HLA-DPA1 and-DPB1.Conclusions The data of HLA-DQA1,-DQB1,HLA-DPA1,-DPB1allele polymorphism and haplotype among ethnic Hans from Northern China were obtained by NGS,which can provide important reference data for organ transplantation,population genetics and disease association research.
作者
王丽君
王东梅
刘娜
张丹
敬媛媛
贾延军
Wang Lijun;Wang Dongmei;Liu Na;Zhang Dan;Jing Yuanyuan;Jia Yanjun(Department of HLA Typing,Beijing Red Cross Blood Center,Beijing 100088,China)
出处
《北京医学》
CAS
2023年第6期544-547,共4页
Beijing Medical Journal
关键词
人类白细胞抗原
第2代测序分型
多态性
等位基因
human leukocyte antigen(HLA)
next generation sequence(NGS)
polymorphism
allele