Genetic studies in south Balkan populations

Area of Science:

• Population Genetics
• Human Genetics
• Anthropology

Background:

• The Balkan region is a crossroads of diverse ethnic groups with complex genetic histories.
• Understanding the genetic landscape of Balkan populations is crucial for tracing human migration and admixture patterns.

Purpose of the Study:

• To genetically characterize Balkan populations using DNA Short Tandem Repeat (STR) systems and classical genetic markers.
• To investigate the genetic relationships and homogeneity among various Balkan groups, including Romanians, Albanians, Greeks, and Aromuns.
• To identify unique genetic signatures within specific Balkan populations.

Main Methods:

• Analysis of four DNA-STR systems and 19 classical genetic markers.
• Comparison of obtained genetic data with existing literature.
• Construction of Neighbor-joining trees to visualize genetic distances and relationships.

Main Results:

• Four distinct genetic clusters were identified: Sub-Saharan African, North African, Japanese, and European populations.
• Most large Balkan populations, excluding the Greek sample, exhibited greater genetic homogeneity.
• Aromun populations displayed a distinct genetic trend, suggesting a unique genetic structure when all 23 systems were analyzed.

Conclusions:

• Balkan populations exhibit diverse genetic profiles, with Aromuns showing a notable genetic divergence.
• Genetic analysis using STR and classical markers effectively differentiates major global populations and highlights intra-regional variations.
• The study underscores the importance of fine-scale genetic investigations within complex regions like the Balkans.