Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs.
Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs.
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中国东部汉族遗传多态性与进化分化：KIR的综合比较分析
DOI：
10.1038/srep42486
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发表时间：
2017-02-16
影响因子：
4.6
通讯作者：
Chen F
中科院分区：
文献类型：
--
作者：
Yin C;Hu L;Huang H;Yu Y;Li Z;Ji Q;Kong X;Wang Z;Yan J;Yan J;Zhu B;Chen F
杀伤细胞免疫球蛋白样受体基因，即KIRs，聚集在160kb的基因组DNA区域内。在本研究中，我们采用PCR - SSP方法，成功鉴定了中国江苏省123名独立健康供体的17个KIR基因的基因型。所有个体在7个基因上均呈阳性。其余10个KIRs的观察到的携带基因频率（OFs）从14.63%（KIR2DS3）到95.93%（KIR3DL1）不等。我们发现了27种不同的基因型（不包括KIR1D）。最常见的基因型出现在63名个体中（51.22%）。连锁不平衡分析表明在45对比较中有29个正相关和6个负相关。为了研究群体分化，我们根据来自59个群体的KIR数据绘制了热图，并通过欧几里得距离进行了层次聚类。接下来，我们通过估计成对DA距离、绘制邻接树以及包含另外3个中国汉族群体的多维尺度分析（MDS）图来验证我们的结果。系统发育重建和聚类分析强烈表明东部汉族和吉林汉族之间存在遗传上的密切关系。总之，本研究为群体遗传学提供了有价值的KIR基因分型资源，并可能有助于未来揭示KIRs在免疫疾病中的遗传机制。
Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DAdistances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future.
影响因子：
7.4
作者：
Zhou Q;Wang J;He Z;Li X;Mao S;Huang S;Bian G;Ma F
通讯作者：
Ma F