江苏8地市汉族人群HLA-A位点等位基因多态性分析
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南京医科大学第一附属医院HLA实验检测中心

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中华骨髓库研究课题(CMDP201909)


Polymorphism analysis of HLA-A alleles in Han population from 8 prefecture-level cities of Jiangsu Province
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Department of HLA lab,the First Affiliated Hospital with Nanjing Medical University

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    摘要:

    [摘要] 目的:统计分析来自中华骨髓库江苏分库8地市汉族造血干细胞志愿者HLA-A位点等位基因频率,了解江苏8地市汉族人群HLA-A位点等位基因分布特征。方法:采用聚合酶链反应-直接测序分型(Polymerase chain reaction-sequence based typing,PCR-SBT)技术,对中华骨髓库江苏分库共计27143名无关志愿者的HLA-A位点进行高分辨分型,按地市统计HLA-A位点等位基因频率并比较分析。结果:江苏8地市汉族人群共检测出86种HLA-A位点等位基因,其中常州57种,南京56种,镇江38种,扬州37种,淮安41种,宿迁45种,徐州42种,盐城41种。经统计分析,南京与镇江、扬州在A*02:01:01G 、11:01、24:02、30:01、33:03等位基因频率上均无显著性差异。南京、镇江非常接近,常见的HLA-A位点等位基因依次为A*11:01、24:02、02:01:01G、33:03、30:01、02:07、02:06、31:01、01:01;常州、扬州非常接近,常见的HLA-A位点等位基因依次为A*11:01、24:02、02:01:01G、33:03、02:07、30:01、02:06、31:01、01:01。盐城、宿迁比较接近,常见的HLA-A位点等位基因大体依次为A*11:01、24:02、02:01:01G、30:01、33:03、02:07、02:06、01:01,仅在A*02:01:01G、30:01的顺序上有所区别。徐州、淮安也比较接近,常见的HLA-A位点等位基因大体依次为A*24:02、11:01、30:01、02:01:01G、33:03,仅在A*30:01、02:01:01G的顺序上有所区别。结论:本资料反应了江苏8地市汉族人群HLA-A位点等位基因分布状况,其基因频率分布与地域分布基本吻合,徐州、淮安与鲁南地区非常接近,南京、镇江、常州、扬州与上海、浙江有一定相似之处。江苏8地市HLA-A位点等位基因多态性分析为研究HLA-A位点等位基因与疾病相关性以及江苏8地市人类遗传学提供了有意义的基础性资料。

    Abstract:

    [Abstract] Objective: To investigate the distribution characteristics of HLA-A alleles in Han population from Chinese Marrow Donor Program (CMDP) Jiangsu Branch in 8 prefecture-level cities of Jiangsu Province. Methods: 27143 volunteers from CMDP Jiangsu Branch were genotyped at HLA-A locus using Polymerase Chain Reaction–Sequence Based Typing (PCR-SBT) method, frequencies of HLA-A alleles were separately calculated in 8 prefecture-level cities and compared. Results: A total of 86 HLA-A alleles were detected in Jiangsu Han population, among them 57,56,38,37,41,45,42,41 HLA-A alleles were separately detected in Changzhou, Nanjing, Zhenjiang, Yangzhou, Huai’an, Suqian, Xuzhou, Yancheng Han population. There was no significant difference in allele frequencies of A*02:01:01G, 11:01, 24:02, 30:01 and 33:03 among Nanjing, Zhenjiang and Yangzhou after statistical analysis. The common alleles in Nanjing and Zhenjiang were very close, which were A*11:01、24:02、02:01:01G、33:03、30:01、02:07、02:06、31:01、01:01. The common alleles in Changzhou were very close to Yangzhou, which were A* 11:01、24:02、02:01:01G、33:03、02:07、30:01、02:06、31:01、01:01.The common alleles in Yancheng and Suqian were very close, which were A* 11:01、24:02、02:01:01G、30:01、33:03、02:07、02:06、01:01, only difference in the order of A*02:01:01G and A*30:01. The common alleles in Xuzhou were very close to Huai’an, which were A*24:02、11:01、30:01、02:01:01G、33:03,only difference in the order of A*02:01:01G and A*30:01. Conclusion: The results reflected the distribution of HLA-A alleles of Jiangsu Han population from 8 prefecture-level cities and the alleles frequency distribution was basically consistent with the regional distribution. HLA-A alleles distribution of Xuzhou and Huai'an were similar to the Southern Area of Shandong, those of Nanjing, Zhenjiang, Changzhou and Yangzhou were similar to Shanghai and Zhejiang. These findings could serve as foundation for HLA-A related disease research, population anthropology in Jiangsu Han population.

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  • 收稿日期:2020-12-01
  • 最后修改日期:2021-01-19
  • 录用日期:2021-06-21
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