Palo Jukka U, Ulmanen Ismo, Lukka Matti, Ellonen Pekka, Sajantila Antti
Department of Forensic Medicine, University of Helsinki, Helsinki, Finland.
Eur J Hum Genet. 2009 Oct;17(10):1336-46. doi: 10.1038/ejhg.2009.53. Epub 2009 Apr 15.
The Finnish population in Northern Europe has been a target of extensive genetic studies during the last decades. The population is considered as a homogeneous isolate, well suited for gene mapping studies because of its reduced diversity and homogeneity. However, several studies have shown substantial differences between the eastern and western parts of the country, especially in the male-mediated Y chromosome. This divergence is evident in non-neutral genetic variation also and it is usually explained to stem from founder effects occurring in the settlement of eastern Finland as late as in the 16th century. Here, we have reassessed this population historical scenario using Y-chromosomal, mitochondrial and autosomal markers and geographical sampling covering entire Finland. The obtained results suggest substantial Scandinavian gene flow into south-western, but not into the eastern, Finland. Male-biased Scandinavian gene flow into the south-western parts of the country would plausibly explain the large inter-regional differences observed in the Y-chromosome, and the relative homogeneity in the mitochondrial and autosomal data. On the basis of these results, we suggest that the expression of 'Finnish Disease Heritage' illnesses, more common in the eastern/north-eastern Finland, stems from long-term drift, rather than from relatively recent founder effects.
在过去几十年里,北欧的芬兰人口一直是广泛基因研究的对象。由于其多样性降低和同质性,该人群被视为一个同质隔离群体,非常适合进行基因定位研究。然而,多项研究表明,该国东部和西部之间存在显著差异,尤其是在男性介导的Y染色体方面。这种差异在非中性基因变异中也很明显,通常被解释为源于16世纪芬兰东部定居时发生的奠基者效应。在这里,我们使用Y染色体、线粒体和常染色体标记以及覆盖整个芬兰的地理采样,重新评估了这一人群历史情况。所得结果表明,斯堪的纳维亚有大量基因流入芬兰西南部,但没有流入东部。男性偏向的斯堪的纳维亚基因流入该国西南部,可能解释了在Y染色体上观察到的巨大区域间差异,以及线粒体和常染色体数据中的相对同质性。基于这些结果,我们认为,在芬兰东部/东北部更为常见的“芬兰疾病遗产”疾病的表现,源于长期的遗传漂变,而非相对较新的奠基者效应。