Di Santo Meztler Gabriela P, Del Palacio Santiago, Esteban María E, Armoa Isaías, Argüelles Carina F, Catanesi Cecilia I
Laboratorio de Diversidad Genética, IMBICE, CICPBA-Consejo Nacional de Investigaciones Científicas y Técnicas, La Plata, Argentina.
Instituto Argentino de Radioastronomía, CCT-La Plata, Consejo Nacional de Investigaciones Científicas y Técnicas, CICPBA, Villa Elisa, Argentina.
Front Genet. 2018 Jun 13;9:208. doi: 10.3389/fgene.2018.00208. eCollection 2018.
Alu insertions, INDELs, and SNPs in the X chromosome can be useful not only for revealing relationships among populations but also for identification purposes. We present data of 10 Alu insertions, 5 INDELs, and 15 SNPs of X-chromosome from three Argentinian north-east cities in order to gain insight into the genetic diversity of the X chromosome within this region of the country. Data from 198 unrelated individuals belonging to Posadas, Corrientes, and Eldorado cities were genotyped for Ya5DP62, Yb8DP49, Ya5DP3, Ya5NBC37, Ya5DP77, Ya5NBC491, Ya5DP4, Ya5DP13, Yb8NBC634, and Yb8NBC102 Alu insertions, for MID193, MID1705, MID3754, MID3756 and MID1540 Indels and for rs6639398, rs5986751, rs5964206, rs9781645, rs2209420, rs1299087, rs318173, rs933315, rs1991961, rs4825889, rs1781116, rs1937193, rs1781104, rs149910, and rs652 SNPs. No deviations from Hardy-Weinberg equilibrium were observed for Posadas and Corrientes. However, Eldorado showed significant values, and it was found to have an internal substructuring with two groups of different origin, one showing higher similarity with European countries, and the other with more similarities to Posadas and Corrientes. pairwise genetic distances emerged for some markers among the studied populations and also between our data and those from other countries and continents. Of particular interest, Alu insertions demonstrated the most differences, and could be of use in ancestry studies for these populations, while INDELs and SNPs variation were informative for differentiation within the country.
X染色体上的Alu插入序列、插入缺失多态性（INDELs）和单核苷酸多态性（SNPs）不仅有助于揭示不同人群之间的关系，还可用于身份识别。我们展示了来自阿根廷东北部三个城市的X染色体上10个Alu插入序列、5个插入缺失多态性和15个单核苷酸多态性的数据，以便深入了解该国该地区X染色体的遗传多样性。对来自波萨达斯、科连特斯和埃尔多拉多市的198名无亲缘关系个体进行基因分型，检测Ya5DP62、Yb8DP49、Ya5DP3、Ya5NBC37、Ya5DP77、Ya5NBC491、Ya5DP4、Ya5DP13、Yb8NBC634和Yb8NBC102 Alu插入序列，MID193、MID1705、MID3754、MID3756和MID1540插入缺失多态性，以及rs6639398、rs5986751、rs5964206、rs9781645、rs2209420、rs1299087、rs318173、rs933315、rs1991961、rs4825889、rs1781116、rs1937193、rs1781104、rs149910和rs652单核苷酸多态性。波萨达斯和科连特斯未观察到偏离哈迪-温伯格平衡的情况。然而，埃尔多拉多显示出显著的值，并且发现其内部存在亚结构，有两组不同来源的群体，一组与欧洲国家有更高的相似性，另一组与波萨达斯和科连特斯更相似。在所研究的群体之间以及我们的数据与其他国家和大陆的数据之间，一些标记出现了成对遗传距离。特别值得注意的是，Alu插入序列表现出最大的差异，可用于这些人群的祖先研究，而插入缺失多态性和单核苷酸多态性变异对于该国境内的分化具有信息价值。
