title: Bulgarians vs the other European populations: a mitochondrial DNA perspective.
abstract: To define the matrilineal relationships between Bulgarians and other European populations, we have evaluated the mitochondrial DNA (mtDNA) variation in a sample of 855 Bulgarian subjects from the mtDNA perspective. The molecular survey was performed by sequencing ∼750 bp of the control region, which resulted in 557 different haplotypes, and by a subsequent restriction fragment length polymorphism analysis to confirm haplogroup/subhaplogroup affiliation. The classification was carried out according to the most updated criteria as reported by van Oven and Kayser (Hum Mutat 30:386-394, 2009), allowing the identification of 45 mitochondrial clades. The observed pattern of mtDNA variation indicates that the Bulgarian mitochondrial pool is geographically homogeneous across the country, and that is characterized by an overall extremely high frequency of western Eurasian lineages. In the principal component analysis, Bulgarians locate in an intermediate position between Eastern European and Mediterranean populations, which is in agreement with historical events. Thus, while the Mediterranean legacy could be attributed to the Thracians, indigenous people that firstly inhabited the Balkans, the Eastern contribution is likely due to the Proto-Bulgarians originating from the Middle East and to the Slavs migrating from northeast Europe.
authors.affiliation: Department of Medical Genetics, Medical University of Sofia, 1431, Sofia, Bulgaria.
authors.forename: Sena
authors.initials: S
authors.lastname: Karachanak
authors.forename: Valeria
authors.initials: V
authors.lastname: Carossa
authors.forename: Desislava
authors.initials: D
authors.lastname: Nesheva
authors.forename: Anna
authors.initials: A
authors.lastname: Olivieri
authors.forename: Maria
authors.initials: M
authors.lastname: Pala
authors.forename: Baharak
authors.initials: B
authors.lastname: Hooshiar Kashani
authors.forename: Viola
authors.initials: V
authors.lastname: Grugni
authors.forename: Vincenza
authors.initials: V
authors.lastname: Battaglia
authors.forename: Alessandro
authors.initials: A
authors.lastname: Achilli
authors.forename: Yordan
authors.initials: Y
authors.lastname: Yordanov
authors.forename: Angel S
authors.initials: AS
authors.lastname: Galabov
authors.forename: Ornella
authors.initials: O
authors.lastname: Semino
authors.forename: Draga
authors.initials: D
authors.lastname: Toncheva
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
mesh_terms: D002031:Bulgaria; D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005060:Europe; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial