A genetic portrait of the South-Eastern Carpathians based on autosomal short tandem repeats loci used in forensics

Am J Hum Biol. 2018 Sep;30(5):e23139. doi: 10.1002/ajhb.23139. Epub 2018 Aug 12.

Abstract

Objectives: This work aimed to describe the genetic landscape of the Balkan Peninsula, as revealed by STR markers commonly used in forensics and spatial methods specifically developed for genetic data.

Methods: We generated and analyzed 16 short tandem repeats (STRs) autosomal genotypes in 287 subjects from ten administrative/geographical regions of Eastern Europe (Romania and the Republic of Moldova). We report estimates of the allele frequencies in these sub-populations, their fixation indexes, and use these results to complement previous spatial analyses of Southern Europe.

Results: In seven out of ten analyzed regional samples the heterozygosity, averaged across loci, was lower than expected. The average Fis was 0.011. Among the 16 loci, five returned a significant fixation index Fst. The composite Fst across the 16 loci, among the 10 regional samples, was 0.00417, a figure twice as large as that obtained with the same markers across the entire Northern Mediterranean. The first spatial principal component (sPC1) returned the picture of a Central-European pattern of frequencies for the Carpathians, which extended to the Southern boundary of the Balkan Peninsula. However, the 8 alleles extracted by sPC1 returned a picture of a strong reduction of the migration rate in the Carpathian region, mostly between the inner locations.

Conclusions: Our results revealed an unexpected heterogeneity in the area. We believe that populations from some regions will require treatment as distinct entities when considered in forensic applications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Frequency*
  • Genetic Variation*
  • Genotype
  • Humans
  • Microsatellite Repeats*
  • Moldova
  • Romania