中国北方汉族人群HLA-DQA1、-DQB1和HLA-DPA1、-DPB1等位基因多态性分析

Allele polymorphism analysis of HLA-DQA1,HLA-DQB1 and HLA-DPA1,HLA-DPB1 among Han population in Northern China

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.