Development of a multiplex panel with 36 insertion/deletion markers (InDel) for individual identification.

Area of Science:

• Forensic Genetics
• Population Genetics
• Molecular Biology

Background:

• Insertion/deletion (InDel) polymorphisms are increasingly favored genetic markers in forensic genetics.
• Their low mutation rates and small amplicon sizes offer advantages over traditional markers.
• A need existed for a robust InDel panel for human identification and population studies.

Purpose of the Study:

• To develop and validate a 36-InDelplex identification panel.
• To determine the gene frequencies of the panel in the Turkish population.
• To assess the panel's suitability for human identification and population genetics.

Main Methods:

• Development of a 36-InDelplex panel (34 autosomal InDel loci, 1 Y InDel locus, amelogenin).
• Selection of loci from 1000 Genomes Project Phase 3 data with MAF ≥ 0.4.
• Validation following SWGDAM guidelines, including sensitivity, reproducibility, and inhibitor tolerance.
• Population study on 250 Turkish samples and comparison with major global populations.

Main Results:

• The developed panel demonstrated high sensitivity, yielding complete profiles with 0.25 ng DNA.
• The Turkish population study showed a mean observed heterozygosity (Ho) of 0.48.
• The panel achieved a combined discrimination power (CPD) of 0.999999999990867 and combined exclusion probability (CPE) of 0.9930.

Conclusions:

• The 36-InDelplex panel is a reliable, sensitive, and accurate system for human identification.
• The panel is well-suited for population genetics studies, including forensic applications.
• This system provides valuable genetic data for the Turkish population and aids in global population comparisons.