Lappalainen Tuuli, Koivumäki Satu, Salmela Elina, Huoponen Kirsi, Sistonen Pertti, Savontaus Marja-Liisa, Lahermo Päivi
Finnish Genome Center, University of Helsinki, Finland.
Gene. 2006 Jul 19;376(2):207-15. doi: 10.1016/j.gene.2006.03.004. Epub 2006 Mar 18.
Twenty-two Y-chromosomal markers, consisting of fourteen biallelic markers (YAP/DYS287, M170, M253, P37, M223, 12f2, M9, P43, Tat, 92R7, P36, SRY-1532, M17, P25) and eight STRs (DYS19, DYS385a/b, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393), were analyzed in 536 unrelated Finnish males from eastern and western subpopulations of Finland. The aim of the study was to analyze regional differences in genetic variation within the country, and to analyze the population history of the Finns. Our results gave further support to the existence of a sharp genetic border between eastern and western Finns so far observed exclusively in Y-chromosomal variation. Both biallelic haplogroup and STR haplotype networks showed bifurcated structures, and similar clustering was evident in haplogroup and haplotype frequencies and genetic distances. These results suggest that the western and eastern parts of the country have been subject to partly different population histories, which is also supported by earlier archaeological, historical and genetic data. It seems probable that early migrations from Finno-Ugric sources affected the whole country, whereas subsequent migrations from Scandinavia had an impact mainly on the western parts of the country. The contacts between Finland and neighboring Finno-Ugric, Scandinavian and Baltic regions are evident. However, there is no support for recent migrations from Siberia and Central Europe. Our results emphasize the importance of incorporating Y-chromosomal data to reveal the population substructure which is often left undetected in mitochondrial DNA variation. Early assumptions of the homogeneity of the isolated Finnish population have now proven to be false, which may also have implications for future association studies.
对来自芬兰东部和西部亚群体的536名无血缘关系的芬兰男性进行了22个Y染色体标记分析，这些标记包括14个双等位基因标记（YAP/DYS287、M170、M253、P37、M223、12f2、M9、P43、Tat、92R7、P36、SRY - 1532、M17、P25）和8个短串联重复序列（STRs）（DYS19、DYS385a/b、DYS388、DYS389I/II、DYS390、DYS391、DYS392、DYS393）。该研究的目的是分析芬兰国内遗传变异的区域差异，并分析芬兰人的群体历史。我们的结果进一步支持了芬兰东部和西部之间存在明显遗传边界的观点，到目前为止，这一观点仅在Y染色体变异中观察到。双等位基因单倍群和STR单倍型网络均显示出分叉结构，并且在单倍群和单倍型频率以及遗传距离方面也存在类似的聚类现象。这些结果表明，该国西部和东部经历了部分不同的群体历史，早期的考古、历史和遗传数据也支持这一点。似乎很可能来自芬兰 - 乌戈尔语系源头的早期移民影响了整个国家，而随后来自斯堪的纳维亚的移民主要对该国西部产生了影响。芬兰与邻近的芬兰 - 乌戈尔语系、斯堪的纳维亚和波罗的海地区之间的联系很明显。然而，没有证据支持近期来自西伯利亚和中欧的移民。我们的结果强调了纳入Y染色体数据以揭示群体亚结构的重要性，而这种亚结构在线粒体DNA变异中往往未被发现。早期关于孤立的芬兰人群体同质性的假设现已被证明是错误的，这可能也会对未来的关联研究产生影响。
