Pericić Marijana, Barać Lauc Lovorka, Martinović Klarić Irena, Janićijević Branka, Rudan Pavao
Institute for Anthropological Research, Amruseva 8, 10000 Zagreb, Croatia.
Croat Med J. 2005 Aug;46(4):502-13.
The aim of this review is to summarize the existing data collected in high-resolution phylogenetic studies of mitochondrial DNA and Y chromosome variation in mainland and insular Croatian populations. Mitochondrial DNA polymorphisms were explored in 721 individuals by sequencing mtDNA HVS-1 region and screening a selection of 24 restriction fragment length polymorphisms (RFLPs), diagnostic for main Eurasian mtDNA haplogroups. Whereas Y chromosome variation was analyzed in 451 men by using 19 single nucleotide polymorphism (SNP)/indel and 8 short tandem repeat (STR) loci. The phylogeography of mtDNA and Y chromosome variants of Croatians can be adequately explained within typical European maternal and paternal genetic landscape, with the exception of mtDNA haplogroup F and Y-chromosomal haplogroup P* which indicate a connection to Asian populations. Similar to other European and Near Eastern populations, the most frequent mtDNA haplogroups in Croatians were H (41.1%), U5 (10.3%), and J (9.7%). The most frequent Y chromosomal haplogroups in Croatians, I-P37 (41.7%) and R1a-SRY1532 (25%), as well as the observed structuring of Y chromosomal variance reveal a clearly evident Slavic component in the paternal gene pool of contemporary Croatian men. Even though each population and groups of populations are well characterized by maternal and paternal haplogroup distribution, it is important to keep in mind that linking phylogeography of various haplogroups with known historic and prehistoric scenarios should be cautiously performed.
本综述的目的是总结在克罗地亚大陆和岛屿人群线粒体DNA和Y染色体变异的高分辨率系统发育研究中收集的现有数据。通过对线粒体DNA高变区1（HVS-1）进行测序，并筛选24个限制性片段长度多态性（RFLP）来探索721名个体的线粒体DNA多态性，这些RFLP可用于诊断主要的欧亚线粒体DNA单倍群。而通过使用19个单核苷酸多态性（SNP）/插入缺失和8个短串联重复（STR）位点，对451名男性的Y染色体变异进行了分析。克罗地亚人的线粒体DNA和Y染色体变异的系统地理学可以在典型的欧洲母系和父系遗传背景中得到充分解释，但线粒体DNA单倍群F和Y染色体单倍群P*除外，它们表明与亚洲人群存在联系。与其他欧洲和近东人群相似，克罗地亚人最常见的线粒体DNA单倍群是H（41.1%）、U5（10.3%）和J（9.7%）。克罗地亚人最常见的Y染色体单倍群是I-P37（41.7%）和R1a-SRY1532（25%），以及观察到的Y染色体变异结构揭示了当代克罗地亚男性父系基因库中明显的斯拉夫成分。尽管每个群体和群体组都以母系和父系单倍群分布为特征，但重要的是要记住，将各种单倍群的系统地理学与已知的历史和史前情况联系起来时应谨慎进行。
