广西壮族人群HLA - A、- B、- C、- DRB1和 - DQB1等位基因多态性及高分辨率单倍型频率
[Polymorphism of HLA-A, -B, -C, -DRB1 and -DQB1 Allele and Haplotype Frequency at High Resolution in Guangxi Zhuang Population].
作者信息
Pei Yong-Feng, Yu Mei, Huang Hui-Ni, Chen Jie-Run, Li Heng-Cong
机构信息
Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning 530007, Guangxi Zhuang Autonomous Region, China,E-mail:
Nanning Institute of Transfusion Medicine, Nanning Blood Center, Nanning 530007, Guangxi Zhuang Autonomous Region, China.
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Aug;28(4):1397-1405. doi: 10.19746/j.cnki.issn.1009-2137.2020.04.054.
OBJECTIVE
To analyze the characteristics of allelic and haplotypic polymorphisms of human leukocyte antigens at HLA-A, -B, -C, DRB1 and DQB1 loci in Guangxi Zhuang population.
METHODS
Polymerase chain reaction-sequence based typing (PCR-SBT) was used to detect. The five loci (HLA-A, -B, -C, -DRB1, -DQB1) in 350 unrelated Zhuang ethnic individual from Guangxi region. Allelic and haplotypic frequencies were calculated by using Arlequin software 3.5.2.2. Phylogeny tree were constructed by using MEGA software 6.0, and SPSS software was used for principal component analysis.
RESULTS
Among the five loci in the population, only HLA-A and DRB1 loci were observed as departures from Hardy-Weinberg expectations. A total of 19 HLA-A, 42 HLA-B, 22 HLA-C, 25 HLA-DRB1 and 15 HLA-DQB1 alleles were found in 350 samples. The most highest frequent alleles were A11: 01(28.57%), B46: 01(14.00%), C01: 02(18.43%), DRB116: 02 (15.71%）and DQB105: 02 (35.00%) . The most common five loci haplotype was A33: 03-C03: 02-B58: 01-DRB103: 01-DQB102: 01（6.86%）. The phylogenetic tree analysis showed that Guangxi Zhuang population had a relative close genetic relationship with southern Han Chinese populations.
CONCLUSION
This reaserch found that the HLA-A, B, C, DRB1 and DQB1 loci are highly polymorphic in Guangxi Zhuang population.
目的
分析广西壮族人群人类白细胞抗原（HLA）-A、-B、-C、DRB1和DQB1基因座的等位基因及单倍型多态性特征。
方法
采用聚合酶链反应-序列分型（PCR-SBT）方法对广西地区350名无血缘关系的壮族个体的上述5个基因座进行检测。使用Arlequin软件3.5.2.2计算等位基因和单倍型频率。使用MEGA软件6.0构建系统发育树，并使用SPSS软件进行主成分分析。
结果
在该人群的5个基因座中，仅观察到HLA-A和DRB1基因座偏离哈迪-温伯格平衡。在350份样本中，共发现19个HLA-A、42个HLA-B、22个HLA-C、25个HLA-DRB1和15个HLA-DQB1等位基因。频率最高的等位基因分别为A11:01（28.57%）、B46:01（14.00%）、C01:02（18.43%）、DRB116:02（15.71%）和DQB105:02（35.00%）。最常见的5个基因座单倍型为A33:03-C03:02-B58:01-DRB103:01-DQB102:01（6.86%）。系统发育树分析表明，广西壮族人群与南方汉族人群具有相对较近的遗传关系。
结论
本研究发现HLA-A、B、C、DRB1和DQB1基因座在广西壮族人群中具有高度多态性。
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