巴斯克本土人群的 Y 染色体与青铜时代的更替。
The Y chromosome of autochthonous Basque populations and the Bronze Age replacement.
机构信息
Area de Antropología, Facultad de Biología, Universidad de Santiago de Compostela, Campus Sur s/n, 15782, Santiago de Compostela, Spain.
BIOMICs Research Group, Dpto. Z. y Biologia Celular A., Lascaray Research Centre, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain.
出版信息
Sci Rep. 2021 Mar 10;11(1):5607. doi: 10.1038/s41598-021-84915-1.
Here we report on the Y haplogroup and Y-STR diversity of the three autochthonous Basque populations of Alava (n = 54), Guipuzcoa (n = 30) and Vizcaya (n = 61). The same samples genotyped for Y-chromosome SNPs were typed for 17 Y-STR loci (DYS19, DYS385a/b, DYS398I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA H4) using the AmpFlSTR Yfiler system. Six major haplogroups (R, I, E, J, G, and DE) were detected, being R-S116 (P312) haplogroup the most abundant at 75.0% in Alava, 86.7% in Guipuzcoa and 87.3% in Vizcaya. Age estimates for the R-S116 mutation in the Basque Country are 3975 ± 303, 3680 ± 345 and 4553 ± 285 years for Alava, Guipuzcoa and Vizcaya, respectively. Pairwise Rst genetic distances demonstrated close Y-chromosome affinities among the three autochthonous Basque populations and between them and the male population of Ireland and Gascony. In a MDS plot, the population of Ireland segregates within the Basque cluster and closest to the population of Guipuzcoa, which plots closer to Ireland than to any of the other Basque populations. Overall, the results support the notion that during the Bronze Age a dispersal of individuals carrying the R-S116 mutation reached the Basque Country replacing the Paleolithic/Neolithic Y chromosome of the region.
我们报告了三个巴斯克自治区本土群体（阿拉瓦，n=54；吉普斯夸，n=30；比斯开，n=61）的 Y 单倍群和 Y-STR 多样性。对同一批用 Y 染色体 SNP 进行基因分型的样本，我们用 AmpFlSTR Yfiler 系统对 17 个 Y-STR 基因座（DYS19、DYS385a/b、DYS398I/II、DYS390、DYS391、DYS392、DYS393、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635、Y-GATA H4）进行了分型。共检测到六个主要单倍群（R、I、E、J、G 和 DE），其中 R-S116（P312）单倍群在阿拉瓦最为丰富，占 75.0%，在吉普斯夸和比斯开分别占 86.7%和 87.3%。对巴斯克地区 R-S116 突变的年龄估计分别为阿拉瓦 3975±303 年、吉普斯夸 3680±345 年和比斯开 4553±285 年。Rst 遗传距离的成对分析表明，三个巴斯克自治区本土群体之间以及它们与爱尔兰和加斯科涅男性群体之间的 Y 染色体亲缘关系密切。在 MDS 图中，爱尔兰群体位于巴斯克群体簇内，与吉普斯夸群体最为接近，而吉普斯夸群体与其他巴斯克群体相比，与爱尔兰群体更为接近。总体而言，研究结果支持了这样一种观点，即在青铜时代，携带 R-S116 突变的个体的扩散到达了巴斯克地区，取代了该地区的旧石器时代/新石器时代的 Y 染色体。
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