中国南方汉族人群HLA-DPA1、-DPB1及-DQA1基因多态性的研究

An analysis on allelic polymorphisms of HLA-DPA1, -DPB1 and -DQA1 loci in southern Chinese Han population

目的调查中国南方汉族人群HLA-DPA1、-DPB1和-DQA1等位基因多态性。方法 2017年6月-12月应用PCR-SBT测序分型法对1 000名健康无血缘关系的南方汉族人群外周血样(于2016年8月-2017年5月收集)进行HLA-DPA1、-DPB1和-DQA1基因测序分型。HLA-DPA1和-DPB1基因采用自行设计的引物同步扩增检测第2、3外显子,HLA-DQA1检测第1~4外显子。电泳序列导入uTYPE 7.2 HLA分析软件判定基因型。采用直接计数法计算等位基因的分布频率。结果在1 000人份南方汉族无关个体HLA-DPA1、-DPB1和-DQA1测序分型所获的序列中,无背景信号和杂峰。共检出6种HLA-DPA1等位基因,频率由高到低依次为DPA1~*02∶02 (0.541)>DPA1~*01∶03 (0.340)>DPA1~*02∶01 (0.095)>DPA1~*04∶01 (0.021)>DPA1~*02∶07 (0.003)>DPA1~*01∶04 (0.002);共检出HLA-DPB1等位基因33种,频率较高的前4种等位基因依次为DPB1~*05∶01(0.401)、DPB1~*02∶01(0.165)、DPB1~*04∶01(0.085)、DPB1~*02∶02(0.071);共检出19种HLA-DQA1等位基因,频率较高的前4种等位基因依次为DQA1~*01∶02(0.196)、DQA1~*03∶02(0.144)、DQA1~*01∶03(0.087)和DQA1~*06∶01(0.085)。结论本文获得了南方汉族人群HLA-DPA1、-DPB1和-DQA1基因多态性数据,可为人类学、群体遗传学、疾病关联研究等提供重要参考数据。

Objective To investigate allelic polymorphisms of HLA-DPA1,-DPB1 and-DQA1 loci in southern Chinese Han population. Methods Polymerase chain reaction sequence-based typing(PCR-SBT) was utilized to detect the genotype of HLA-DPA1, HLA-DPB1 and HLA-DQA1 in 1 000 samples(collected from August 2016 to May 2017) from unrelated healthy southern Chinese Han population. HLA-DPA1 and-DPB1 genes were simultaneously genotyped at exons 2 and 3, while HLA-DQA1 was detected at exons 1~4. All the obtained electrophoresis sequences were imported into uTYPE 7.2 HLA analysis software to define the genotype. The allele frequencies were calculated by direct counting. Results No background or signals was observed in the obtained HLA-DPA1,-DPB1 and-DQA1 sequences. In 1 000 unrelated healthy Han individuals, a total of six HLA-DPA1 alleles were identified. The frequencies from high to low were ranked as DPA1~*02∶02(0.541)> DPA1~*01∶03(0.340)> DPA1~*02∶01(0.095)> DPA1~*04∶01(0.021)> DPA1~*02∶07(0.003)> DPA1~*01∶04(0.002). A total of 33 HLA-DPB1 alleles were detected, in which the most common four DPB1 alleles were DPB1~*05∶01(0.401), DPB1~*02∶01(0.165), DPB1~*04∶01(0.085), DPB1~*02∶02(0.071). A total of 19 HLA-DQA1 alleles were detected and the most common four alleles were DQA1~*01∶02(0.196), DQA1~*03∶02(0.144), DQA1~*01∶03(0.087) and DQA1~*06∶01(0.085). Conclusion In the present study, the allelic polymorphism of HLA-DPA1,-DPB1 and-DQA1 has been elucidated in southern Chinese Han population, which can provide basic data for anthropology, population genetics and HLA-associated disease studies.