Department of Zoology and Anthropology, Faculty of Sciences, University of Porto, 4169-007 Porto, Portugal.
Am J Hum Biol. 2010 Sep-Oct;22(5):588-95. doi: 10.1002/ajhb.21049.
Malaria endemicity in Southwest Iberia afforded conditions for an increase of sickle cell disease (SCD), which in the region follows a clinal pattern toward the south, where foci of high prevalence were found. SCD distribution is associated with specific geographical areas, and therefore, its introduction into Iberia may be related to the migration of different populations. We have analyzed the variation of uniparental markers in Portuguese populations with high frequency of SCD--Coruche, Pias, and Alcacer do Sal--to evaluate if their present-day pattern of neutral diversity could provide evidence about people inhabiting the area over different time periods. Two hundred and eighty-five individuals were sampled in Coruche, Pias, and Alcacer do Sal. All were analyzed for the control region of mitochondrial DNA (mtDNA); males were additionally examined for Y-chromosome markers. Results were then compared with data from other Portuguese and non-Portuguese populations. In Coruche, the genetic profile was similar to the profile usually found in Portugal. In Alcacer do Sal, the frequency of sub-Saharan mtDNA L lineages was the highest ever reported (22%) in Europe. In Pias, mtDNA diversity revealed higher frequencies of Mediterranean haplogroups I, J, and T than usually found in surrounding populations. The presence of Sub-Saharan maternal lineages in Alcacer do Sal is likely associated with the influx of African slaves between the 15th and 19th centuries, whereas in Pias, the Mediterranean influence might be traced to ancient contacts with Greeks, Phoenicians, and Carthaginians, who established important trading networks in southern Iberia.
西南伊比利亚的疟疾流行使镰状细胞病（SCD）的发病率增加，该疾病在该地区呈向南的梯度分布，在那里发现了高发焦点。SCD 的分布与特定的地理区域有关，因此，它在伊比利亚的引入可能与不同人群的迁移有关。我们分析了葡萄牙 SCD 高发地区（科鲁什、皮亚什和阿尔卡塞尔·多萨尔）的单亲标记变异，以评估其当今中性多样性模式是否可以为不同时期居住在该地区的人群提供证据。在科鲁什、皮亚什和阿尔卡塞尔·多萨尔共采集了 285 个人的样本。所有样本均进行了线粒体 DNA（mtDNA）控制区分析；男性还进行了 Y 染色体标记分析。结果与来自其他葡萄牙和非葡萄牙人群的数据进行了比较。在科鲁什，遗传特征与葡萄牙通常发现的特征相似。在阿尔卡塞尔·多萨尔，撒哈拉以南地区的 mtDNA L 谱系频率是欧洲有史以来报道的最高（22%）。在皮亚什，mtDNA 多样性显示出较高频率的地中海单倍群 I、J 和 T，高于周围人群通常发现的频率。阿尔卡塞尔·多萨尔撒哈拉以南地区的母系谱系可能与 15 至 19 世纪非洲奴隶的涌入有关，而在皮亚什，地中海的影响可能可以追溯到与希腊人、腓尼基人和迦太基人的古代接触，他们在伊比利亚南部建立了重要的贸易网络。
