Peña José A, Garcia-Obregon Susana, Perez-Miranda Ana M, De Pancorbo Marian M, Alfonso-Sanchez Miguel A
Departamento de Genética, Antropología Física y Fisiología Animal, Universidad del País Vasco, 48080 Bilbao, Spain.
Am J Hum Biol. 2006 Jul-Aug;18(4):532-9. doi: 10.1002/ajhb.20525.
In this work, seven multiallelic short-tandem repeat (STR) loci from the nonrecombining region of the human Y-chromosome (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, and DYS393) were typed in a sample of residents in the Basque Country (RBAS). In all, 40 different Y-STR haplotypic combinations were identified, resulting in a value of haplotypic diversity of 0.979. Y-STR data compiled from previous works were used for studying Y-chromosome diversity in the Iberian Peninsula and for assessing the effects of migratory movements on the genetic background of the population living currently in territories traditionally occupied by native (autochthonous) Basques. An analysis of the spatial distribution of allelic frequencies of the Y-STRs revealed a geographic pattern characterized by variation gradients (frequency clines) oriented for the most part in the direction southwest-northeast. Accordingly, a neighbor-joining analysis showed a relative polarization between populations located in the northeast and center of the Iberian Peninsula, and the rest of the samples considered. The study sample (RBAS) occupied an intermediate position in the population tree between the autochthonous Basques (BASQ) and the remaining samples. Interestingly, the RBAS collection only showed genetic heterogeneity with that of native Basques (PhiST = 0.013, P < 0.05). Estimates of admixture proportions in the gene pool of RBAS indicated a high level of hybridization with Basque (56%) and non-Basque (44%) genes, which could explain the genetic differentiation observed between BASQ and RBAS.
在本研究中，对来自人类Y染色体非重组区域的7个多等位基因短串联重复序列（STR）位点（DYS19、DYS389 I、DYS389 II、DYS390、DYS391、DYS392和DYS393）在巴斯克地区（RBAS）的居民样本中进行了分型。总共鉴定出40种不同的Y-STR单倍型组合，单倍型多样性值为0.979。从先前研究中汇编的Y-STR数据用于研究伊比利亚半岛的Y染色体多样性，并评估迁徙运动对目前生活在传统上由本地（本土）巴斯克人占据的地区的人群遗传背景的影响。对Y-STR等位基因频率的空间分布分析揭示了一种地理模式，其特征是变异梯度（频率渐变群）大多呈西南-东北方向。相应地，邻接法分析显示位于伊比利亚半岛东北部和中部的人群与其他考虑的样本之间存在相对极化。研究样本（RBAS）在种群树中位于本土巴斯克人（BASQ）和其他样本之间的中间位置。有趣的是，RBAS样本仅与本土巴斯克人的样本表现出遗传异质性（PhiST = 0.013，P < 0.05）。RBAS基因库中混合比例的估计表明与巴斯克基因（56%）和非巴斯克基因（44%）存在高度杂交，这可以解释在BASQ和RBAS之间观察到的遗传分化。
