河北地区汉族人群HLA-C位点基因多态性分析
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摘要
目的:了解河北汉族人群人类白细胞抗原(HLA)-C位点基因多态性及分布特征。方法:对1 912例河北地区汉族人群献血者采用基于测序的分型技术(SBT)进行HLA-C位点高分辨基因分型,直接计算等位基因频率,并与中国其他地区人群进行比较。结果:1 912例河北汉族献血者中共检出41个HLA-C等位基因,其中频率大于0.050的常见等位基因共7个,分别为C*07:02(0.13546),C*06:02(0.118985),C*08:01(0.101726),C*03:03(0.10068),C*01:02(0.09022),C*03:04(0.089174),C*04:01(0.071391)。与我国其他文献中汉族人群数据进行群体比较后发现,河北汉族人群HLA-C位点频率除与最高的常见基因与中国造血干细胞捐献者均为C*07:02外,与其他地区无论是分布规律还是常见等位基因的频率均存在显著差异,四川、广东、湖南岳阳3省市与中国南方汉族人群基因分布规律却较为相近。结论:获得了河北地区汉族人群HLA-C位点基因分布规律和特征,与南方汉族人群差异显著,本研究为中国人群HLA-C位点基因研究和应用提供了参考数据。
Objective:To investigate the polymorphism and distribution of human leukocyte antigen-C(HLAC)locus in Hebei Han population.Method:HLA-C loci high resolution genotyping was performed on 1 912 Hebei Han population using sequence-based typing techniques.The allele frequencies were calculated using direct counting method and compared with the HLA-C frequencies in other parts of China.Result:A total of 41 HLA-C alleles were detected in 1 912 Hebei Han donors.Among them,there were 7 common alleles with frequency greater than0.050,which were C*07:02(0.13546),C*06:02(0.118985),C*08:01(0.101726),C*03:03(0.10068),C*01:02(0.09022),C*03:04(0.089174)and C*04:01(0.071391).Compared with the data of Han popula tion in other researches,it was found that the highest frequency of HLA-C loci gene in Hebei Han population was similar to that of Chinese hematopoietic stem cell donors,both were C*07:02,when compared with other regions,the genetic distribution and gene frequency were significantly different.While genetic distribution of Sichuan Han population,Guangdong Han population,Hunan Yueyang Han population and Han nationality of Southern China were closer.Conclusion:The distribution and characteristics of HLA-C loci in Hebei Han population were significantly different from those in Han nationality of Southern China.This study provided reference data for the study and application of HLA-C loci genes in Chinese.
Objective:To investigate the polymorphism and distribution of human leukocyte antigen-C(HLAC)locus in Hebei Han population.Method:HLA-C loci high resolution genotyping was performed on 1 912 Hebei Han population using sequence-based typing techniques.The allele frequencies were calculated using direct counting method and compared with the HLA-C frequencies in other parts of China.Result:A total of 41 HLA-C alleles were detected in 1 912 Hebei Han donors.Among them,there were 7 common alleles with frequency greater than0.050,which were C*07:02(0.13546),C*06:02(0.118985),C*08:01(0.101726),C*03:03(0.10068),C*01:02(0.09022),C*03:04(0.089174)and C*04:01(0.071391).Compared with the data of Han popula tion in other researches,it was found that the highest frequency of HLA-C loci gene in Hebei Han population was similar to that of Chinese hematopoietic stem cell donors,both were C*07:02,when compared with other regions,the genetic distribution and gene frequency were significantly different.While genetic distribution of Sichuan Han population,Guangdong Han population,Hunan Yueyang Han population and Han nationality of Southern China were closer.Conclusion:The distribution and characteristics of HLA-C loci in Hebei Han population were significantly different from those in Han nationality of Southern China.This study provided reference data for the study and application of HLA-C loci genes in Chinese.
引文
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[9]Kulpa DA,Collins KL.The emerging role of HLA-C in HIV-1infection[J].Immunology,2011,134:116-122.
[2]夏玲,王珏,罗玫,等.直接测序法用于四川骨髓库汉族人群HLA-C等位基因分布的研究[J].中国输血杂志,2010,23(8):596-601.
[3]朱为刚,金士正,邹红岩,等.广东汉族HLA-A、C、B、DRB1和DQB1基因的高分辨多态性及连锁不平衡分析[J].中国输血杂志,2009,22(12):987-994.
[4]孙昂,粟玉萍,代敏,等.岳阳汉族人群HLA-C高分辨等位基因多态性分析[J].现代医药卫生,2016,32(17):2726-2728.
[5]金士正,邹红岩,甄建新,等.中国南方汉族人群HLA-I、Ⅱ类八个位点等位基因多态性的研究[J].中华医学遗传学杂志,2017,34(1)110-114.
[6]黑爱莲,李伟,刘娜,等.中华骨髓库造血干细胞捐献志愿者HLA-A、-B、-C、-DRB1、-DQB1高分辨等位基因频率分析[J].中国输血杂志,2009,22(4):285-287.
[7]朱明明,普雄明,吴卫东.HLA-Cw与银屑病相关性的研究[J].现代生物医学进展,2009,9(17):3345-3347.
[8]Khakoo SI,Thio CL,Martin MP,et al.HLA and NK cell inhibitory receptor genes in resolving hepatitis C virus infection[J].Science,2004,305:872-874.
[9]Kulpa DA,Collins KL.The emerging role of HLA-C in HIV-1infection[J].Immunology,2011,134:116-122.