广西壮族人群HLA-A、-B、-C、-DRB1、-DQB1高分辨等位基因多态性和单倍型的研究

Polymorphism of HLA-A,-B,-C,-DRB1 and-DQB1 Allele and Haplotype Frequency at High Resolution in Guangxi Zhuang Population

目的:分析广西壮族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、-B、-C、-DRB1、-DQB1等位基因和单倍型的特点。方法:采用多聚酶链式反应-基于测序的分型技术(polymerase chain reaction-sequence based typing,PCR-SBT),对广西地区350名壮族非亲缘个体进行HLA-A、-B、-C、-DRB1、-DQB1测序分析,使用Arlequin软件(3.5.2.2)计算HLA等位基因频率、单倍型频率,使用MEGA v6.0软件构建系统发生树和用SPSS软件做主成分分析。结果:该人群5个位点,只有HLA-A和DRB1位点的等位基因分布偏离Hardy-Weinberg平衡(P<0.05)。总共检出19种HLA-A等位基因,42种HLA-B等位基因,22种HLA-C等位基因,25种HLA-DRB1等位基因和15种HLA-DQB1等位基因。等位基因频率最高的分别是A*11:01(28.57%)、B*46:01(14.00%)、C*01:02(18.43%)、DRB1*16:02(15.71%)和DQB1*05:02(35.00%),最常见的5位点单倍型是A*33:03-C*03:02-B*58:01-DRB1*03:01-DQB1*02:01(6.86%),系统发生树结果表明该人群与南方汉族人群亲缘关系较近。结论:广西壮族人群HLA-A、-B、-C、-DRB1、-DQB1等位基因和单倍型有较高的遗传多态性。

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 reactionsequence 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 A*11:01(28.57%),B*46:01(14.00%),C*01:02(18.43%),DRB1*16:02(15.71%)and DQB1*05:02(35.00%).The most common five loci haplotype was A*33:03-C*03:02-B*58:01-DRB1*03:01-DQB1*02:01(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.