The maternal perspective for five Slovenian regions: The importance of regional sampling

Ann Hum Biol. 2016;43(1):57-66. doi: 10.3109/03014460.2015.1006678. Epub 2015 Jun 12.

Abstract

Background: The Slovenian territory is geographically positioned between the Alps, Adriatic Sea, Pannonian basin and the Dinaric Mountains and, as such, has served as a passageway for various populations in different periods of time. Turbulent historic events and diverse geography of the region have produced a diverse contemporary population whose genetic analysis could provide insight into past demographic events.

Aim: The aims of this study were to characterize the Slovenian mitochondrial gene pool at the micro-geographic level and to compare it with surrounding populations.

Subjects and methods: A total of 402 individuals from five Slovenian regions were analysed in this study by typing HVR I, HVR II and coding region polymorphisms of mtDNA.

Results: Analysis revealed 47 haplogroups and sub-haplogroups, the most common of which were H*, H1, J1c, T2 and U5a. Intra-population comparisons revealed a sharp gradient of the J1c haplogroup between Slovenian regions, with a peak frequency of 24.5% being observed in the population of the Littoral Region.

Conclusion: The sharp gradient of the J1c haplogroup between Slovenian regions is in line with the archaeological horizon known as Impressed Ware culture and could, therefore, represent a genetic trace of the early Neolithic expansion route along the East Adriatic coastal region.

Keywords: Impressed ware culture; J1c haplogroup; Slavs; Slovenian population; mtDNA diversity; neolithic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Pool*
  • Genetic Variation
  • Genetics, Population*
  • Genotype
  • Geography
  • Haplotypes
  • Humans
  • Phylogeny
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Principal Component Analysis
  • Sequence Analysis, DNA
  • Slovenia / epidemiology

Substances

  • DNA, Mitochondrial
  • DNA