Bulgarians vs the other European populations: A mitochondrial DNA perspective

Sena Karachanak, Valeria Carossa, Desislava Nesheva, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Viola Grugni, Vincenza Battaglia, Alessandro Achilli, Yordan Yordanov, Angel S. Galabov, Ornella Semino, Draga Toncheva, Antonio Torroni

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)497-503
Number of pages7
JournalInternational Journal of Legal Medicine
Issue number4
Early online date15 Jun 2011
Publication statusPublished - 1 Jul 2012
Externally publishedYes


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