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中国湖南省张家界土家族MICA/B的等位基因多态性和单倍型多样性

Allele polymorphism and haplotype diversity of MICA/B in Tujia nationality of Zhangjiajie, Hunan Province, China.

作者信息

Wang Y J, Zhang N J, Chen E, Chen C J, Bu Y H, Yu P

机构信息

Department of Immunology, College of Basic Medical Sciences, Central South University, 110 Xiangya Road, Changsha 410078, China; Department of Blood Transfusion, The Second Xiang Ya Hospital of Central South University, 139 Ren Min Zhong Road, Changsha 410011, China.

Department of Blood Transfusion, The Second Xiang Ya Hospital of Central South University, 139 Ren Min Zhong Road, Changsha 410011, China.

出版信息

Hum Immunol. 2016 May;77(5):411-7. doi: 10.1016/j.humimm.2016.03.005. Epub 2016 Mar 10.

Abstract

Previous studies indicate the distribution of major histocompatibility complex class I chain-related genes A (MICA) and B (MICB) alleles and haplotypes varies widely between different ethnic populations and geographic areas. It is meaningful to investigate allelic frequencies and establish a genetic database. In this study, we firstly reported the polymorphic variation of MICA/B in 187 healthy, unrelated Tujia individuals in Zhangjiajie region, China. Using polymerase chain reaction-sequence specific priming (PCR-SSP) and sequencing-based typing (PCR-SBT), we identified eight MICA-sequence alleles, four MICA-short tandem repeat variants, and 13 MICB variants, of which MICA(∗)008:04 (29.41%), MICA(∗)A5 (29.68%), MICA(∗)A5.1 (29.68%) and MICB(∗)005:02 (39.57%) were the most frequent. Linkage disequilibrium analysis further revealed MICB(∗)005:02-MICA(∗)019 (13.10%) and MICB(∗)002-MICA(∗)008:04 (9.89%) as the most common two-locus haplotypes. Data comparison by neighbor-joining dendrograms and principal component analysis to verify allelic frequencies in other Chinese and Asia ethnic groups showed that the Zhangjiajie Tujias were genetically closer to the Guangdong Han population, based on MICA loci variability. Our results provide new information about the MICA/B gene polymorphism in Chinese Tujia population, which will form the basis for future studies on the potential role of MICA/B in allogeneic organ transplantation and disease susceptibility in related ethnic groups.

摘要

先前的研究表明,主要组织相容性复合体I类链相关基因A(MICA)和B(MICB)的等位基因及单倍型分布在不同种族人群和地理区域之间存在很大差异。研究等位基因频率并建立遗传数据库具有重要意义。在本研究中,我们首次报道了中国张家界地区187名健康、无亲缘关系的土家族个体中MICA/B的多态性变异。使用聚合酶链反应-序列特异性引物法(PCR-SSP)和基于测序的分型法(PCR-SBT),我们鉴定出8个MICA序列等位基因、4个MICA短串联重复变异体和13个MICB变异体,其中MICA(∗)008:04(29.41%)、MICA(∗)A5(29.68%)、MICA(∗)A5.1(29.68%)和MICB(∗)005:02(39.57%)最为常见。连锁不平衡分析进一步揭示,MICB(∗)005:02-MICA(∗)019(13.10%)和MICB(∗)002-MICA(∗)008:04(9.89%)是最常见的两位点单倍型。通过邻接法树状图和主成分分析进行数据比较,以验证其他中国和亚洲种族群体的等位基因频率,结果显示,基于MICA基因座变异性,张家界土家族在基因上与广东汉族更为接近。我们的研究结果提供了有关中国土家族人群中MICA/B基因多态性的新信息,这将为未来研究MICA/B在同种异体器官移植中的潜在作用以及相关种族群体的疾病易感性奠定基础。

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