title: The mitochondrial DNA makeup of Romanians: A forensic mtDNA control region database and phylogenetic characterization.
abstract: 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.
authors.affiliation: Section of Legal Medicine, Department of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy. Electronic address: c.turchi@univpm.it.
authors.forename: Chiara
authors.initials: C
authors.lastname: Turchi
authors.affiliation: Romanian National DNA Database, National Forensic Science Institute, General Inspectorate of Romanian Police, Bucharest, Romania. Electronic address: florin.stanciu@genes.ro.
authors.forename: Florin
authors.initials: F
authors.lastname: Stanciu
authors.affiliation: Section of Legal Medicine, Department of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy. Electronic address: giorgia.paselli@studio.unibo.it.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Paselli
authors.affiliation: Section of Legal Medicine, Department of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy. Electronic address: buscemi@univpm.it.
authors.forename: Loredana
authors.initials: L
authors.lastname: Buscemi
authors.affiliation: Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA, USA. Electronic address: walther.parson@i-med.ac.at.
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.affiliation: Section of Legal Medicine, Department of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy. Electronic address: a.tagliabracci@univpm.it.
authors.forename: Adriano
authors.initials: A
authors.lastname: Tagliabracci
mesh_terms: D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000235:genetics*; D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D012383:Romania; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial
keywords: Forensic database; Haplogroup; Mitochondrial DNA; Romanians