Paleo-Balkan and Slavic Contributions to the Genetic Pool of Moldavians: Insights from the Y Chromosome

Moldova has a rich historical and cultural heritage, which may be reflected in the current genetic makeup of its population. To date, no comprehensive studies exist about the population genetic structure of modern Moldavians. To bridge this gap with respect to paternal lineages, we analyzed 37 binary and 17 multiallelic (STRs) polymorphisms on the non-recombining portion of the Y chromosome in 125 Moldavian males. In addition, 53 Ukrainians from eastern Moldova and 54 Romanians from the neighboring eastern Romania were typed using the same set of markers. In Moldavians, 19 Y chromosome haplogroups were identified, the most common being I-M423 (20.8%), R-M17* (17.6%), R-M458 (12.8%), E-v13 (8.8%), R-M269* and R-M412* (both 7.2%). In Romanians, 14 haplogroups were found including I-M423 (40.7%), R-M17* (16.7%), R-M405 (7.4%), E-v13 and R-M412* (both 5.6%). In Ukrainians, 13 haplogroups were identified including R-M17 (34.0%), I-M423 (20.8%), R-M269* (9.4%), N-M178, R-M458 and R-M73 (each 5.7%). Our results show that a significant majority of the Moldavian paternal gene pool belongs to eastern/central European and Balkan/eastern Mediterranean Y lineages. Phylogenetic and AMOVA analyses based on Y-STR loci also revealed that Moldavians are close to both eastern/central European and Balkan-Carpathian populations. The data correlate well with historical accounts and geographical location of the region and thus allow to hypothesize that extant Moldavian paternal genetic lineages arose from extensive recent admixture between genetically autochthonous populations of the Balkan-Carpathian zone and neighboring Slavic groups.

摩尔多瓦拥有丰厚的历史文化遗产，这一点或可从该国当代人群的遗传构成中得到印证。迄今为止，学界尚未开展针对现代摩尔多瓦人群群体遗传结构的全面研究。为填补父系谱系研究方向的这一空白，我们对125名摩尔多瓦男性Y染色体非重组区域的37个二元多态位点与17个多等位基因（短串联重复序列，Short Tandem Repeats, STRs）多态位点进行了分型分析。此外，我们采用同一套标记，对来自摩尔多瓦东部的53名乌克兰男性以及毗邻罗马尼亚东部的54名罗马尼亚男性进行了基因分型。
在摩尔多瓦人群中，共鉴定出19个Y染色体单倍群，其中占比最高的为I-M423（20.8%）、R-M17*（17.6%）、R-M458（12.8%）、E-v13（8.8%），以及R-M269*与R-M412*（二者占比均为7.2%）。在罗马尼亚人群中，共发现14个单倍群，包括I-M423（40.7%）、R-M17*（16.7%）、R-M405（7.4%）、E-v13与R-M412*（二者占比均为5.6%）。在乌克兰人群中，共鉴定出13个单倍群，包括R-M17（34.0%）、I-M423（20.8%）、R-M269*（9.4%）、N-M178、R-M458与R-M73（各占5.7%）。
我们的研究结果显示，摩尔多瓦人群的父系基因库绝大多数隶属于东欧/中欧以及巴尔干/东地中海Y染色体谱系。基于Y-STR位点的系统发育分析与分子方差分析（Analysis of Molecular Variance, AMOVA）同样表明，摩尔多瓦人群与东欧/中欧人群以及巴尔干-喀尔巴阡人群亲缘关系紧密。该研究数据与该区域的历史记载及地理区位高度契合，据此我们可提出假说：现存摩尔多瓦人群的父系遗传谱系，源自巴尔干-喀尔巴阡区域的遗传本土人群与周边斯拉夫族群近期发生的大规模基因交流。