Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
PLoS One. 2012;7(7):e41885. doi: 10.1371/journal.pone.0041885. Epub 2012 Jul 27.
The small alpine district of East Tyrol (Austria) has an exceptional demographic history. It was contemporaneously inhabited by members of the Romance, the Slavic and the Germanic language groups for centuries. Since the Late Middle Ages, however, the population of the principally agrarian-oriented area is solely Germanic speaking. Historic facts about East Tyrol's colonization are rare, but spatial density-distribution analysis based on the etymology of place-names has facilitated accurate spatial mapping of the various language groups' former settlement regions. To test for present-day Y chromosome population substructure, molecular genetic data were compared to the information attained by the linguistic analysis of pasture names. The linguistic data were used for subdividing East Tyrol into two regions of former Romance (A) and Slavic (B) settlement. Samples from 270 East Tyrolean men were genotyped for 17 Y-chromosomal microsatellites (Y-STRs) and 27 single nucleotide polymorphisms (Y-SNPs). Analysis of the probands' surnames revealed no evidence for spatial genetic structuring. Also, spatial autocorrelation analysis did not indicate significant correlation between genetic (Y-STR haplotypes) and geographic distance. Haplogroup R-M17 chromosomes, however, were absent in region A, but constituted one of the most frequent haplogroups in region B. The R-M343 (R1b) clade showed a marked and complementary frequency distribution pattern in these two regions. To further test East Tyrol's modern Y-chromosomal landscape for geographic patterning attributable to the early history of settlement in this alpine area, principal coordinates analysis was performed. The Y-STR haplotypes from region A clearly clustered with those of Romance reference populations and the samples from region B matched best with Germanic speaking reference populations. The combined use of onomastic and molecular genetic data revealed and mapped the marked structuring of the distribution of Y chromosomes in an alpine region that has been culturally homogeneous for centuries.
东蒂罗尔（奥地利）的小高山地区拥有独特的人口历史。几个世纪以来，这里一直居住着罗曼语、斯拉夫语和日耳曼语族群的成员。然而，从中世纪后期开始，这个以农业为主的地区的人口就只讲德语了。关于东蒂罗尔殖民的历史事实很少，但基于地名词源的空间密度分布分析有助于准确绘制各个语言群体以前的定居区域。为了测试当今 Y 染色体群体的亚结构，分子遗传数据与通过对牧场名称的语言学分析获得的信息进行了比较。语言学数据用于将东蒂罗尔分为前罗曼语（A）和斯拉夫语（B）两个区域。对来自 270 名东蒂罗尔男性的样本进行了 17 个 Y 染色体微卫星（Y-STR）和 27 个单核苷酸多态性（Y-SNP）的基因分型。对先证者姓氏的分析没有显示出空间遗传结构的证据。此外，空间自相关分析也没有表明遗传（Y-STR 单倍型）和地理距离之间存在显著相关性。然而，在区域 A 中没有发现 R-M17 染色体的单倍群，而在区域 B 中它是最常见的单倍群之一。R-M343（R1b）支系在这两个区域中表现出明显且互补的频率分布模式。为了进一步测试东蒂罗尔现代 Y 染色体景观是否存在与该高山地区早期定居历史有关的地理模式，进行了主坐标分析。区域 A 的 Y-STR 单倍型明显与罗曼语参考人群聚类，而区域 B 的样本与讲德语的参考人群最匹配。地名学和分子遗传学数据的综合使用揭示并绘制了在一个几个世纪以来文化上同质的高山地区 Y 染色体分布的显著结构。
