Turchi Chiara, Stanciu Florin, Paselli Giorgia, Buscemi Loredana, Parson Walther, Tagliabracci Adriano
Section of Legal Medicine, Department of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy.
Romanian National DNA Database, National Forensic Science Institute, General Inspectorate of Romanian Police, Bucharest, Romania.
Forensic Sci Int Genet. 2016 Sep;24:136-142. doi: 10.1016/j.fsigen.2016.06.013. Epub 2016 Jun 30.
To evaluate the pattern of Romanian population from a mitochondrial perspective and to establish an appropriate mtDNA forensic database, we generated a high-quality mtDNA control region dataset from 407 Romanian subjects belonging to four major historical regions: Moldavia, Transylvania, Wallachia and Dobruja. The entire control region (CR) was analyzed by Sanger-type sequencing assays and the resulting 306 different haplotypes were classified into haplogroups according to the most updated mtDNA phylogeny. The Romanian gene pool is mainly composed of West Eurasian lineages H (31.7%), U (12.8%), J (10.8%), R (10.1%), T (9.1%), N (8.1%), HV (5.4%),K (3.7%), HV0 (4.2%), with exceptions of East Asian haplogroup M (3.4%) and African haplogroup L (0.7%). The pattern of mtDNA variation observed in this study indicates that the mitochondrial DNA pool is geographically homogeneous across Romania and that the haplogroup composition reveals signals of admixture of populations of different origin. The PCA scatterplot supported this scenario, with Romania located in southeastern Europe area, close to Bulgaria and Hungary, and as a borderland with respect to east Mediterranean and other eastern European countries. High haplotype diversity (0.993) and nucleotide diversity indices (0.00838±0.00426), together with low random match probability (0.0087) suggest the usefulness of this control region dataset as a forensic database in routine forensic mtDNA analysis and in the investigation of maternal genetic lineages in the Romanian population.
为了从线粒体角度评估罗马尼亚人群的模式，并建立一个合适的线粒体DNA法医数据库，我们从属于摩尔多瓦、特兰西瓦尼亚、瓦拉几亚和多布罗加四个主要历史地区的407名罗马尼亚受试者中生成了一个高质量的线粒体DNA控制区数据集。通过桑格测序法分析了整个控制区（CR），并根据最新的线粒体DNA系统发育将得到的306种不同单倍型分类为单倍群。罗马尼亚基因库主要由西欧亚血统的H（31.7%）、U（12.8%）、J（10.8%）、R（10.1%）、T（9.1%）、N（8.1%）、HV（5.4%）、K（3.7%）、HV0（4.2%）组成，东亚单倍群M（3.4%）和非洲单倍群L（0.7%）除外。本研究中观察到的线粒体DNA变异模式表明，罗马尼亚的线粒体DNA库在地理上是均匀的，单倍群组成揭示了不同起源人群混合的信号。主成分分析散点图支持了这一情况，罗马尼亚位于东南欧地区，靠近保加利亚和匈牙利，是东地中海和其他东欧国家的边境地区。高单倍型多样性（0.993）和核苷酸多样性指数（0.00838±0.00426），以及低随机匹配概率（0.0087）表明，该控制区数据集可作为法医数据库用于常规法医线粒体DNA分析以及罗马尼亚人群母系遗传谱系的调查。
