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Genetic data and population structure of 10 DIP-STR markers across four US population groups
Lauren Hoopes1, Diana Hall2, Nicole DeWald1
1Department of Chemistry & Physics, Arcadia University, 450 S Easton Rd, Glenside, PA, 19038, USA.
International Journal of Legal Medicine
|November 17, 2025
Summary
This study shows that 10 deletion/insertion polymorphisms-short tandem repeats (DIP-STRs) effectively predict ancestry in diverse U.S. populations. These genetic markers can distinguish between African American, European American, and East Asian American groups, with expected admixture in Southwest Hispanic individuals.
Area of Science:
- Forensic Genetics
- Population Genetics
- Human Ancestry
Background:
- Deletion/insertion polymorphisms (DIPs) combined with short tandem repeats (STRs), known as DIP-STRs, are genetic markers.
- Initially developed for mixture analysis, DIP-STRs are now explored for their potential as ancestry informative markers due to their mix of fast- and slow-evolving polymorphisms.
Purpose of the Study:
- To evaluate the efficacy of a panel of 10 DIP-STR markers in determining the ancestry of individuals from four distinct U.S. population groups.
- To assess the performance of these markers in distinguishing between African American, European American, East Asian American, and Southwest Hispanic populations.
Main Methods:
- Genotyping of 100 individuals from four U.S. population groups (African American, European American, East Asian American, Southwest Hispanic).
- Utilizing 557 HGDP-CEPH samples, previously genotyped for the same 10 DIP-STR markers, as reference populations in STRUCTURE software to analyze genetic structure.
- Haplotype diversity analysis and population clustering.
Main Results:
- A total of 116 haplotypes were identified across the four population groups, with 44.8% shared among them.
- Common and unique haplotypes were observed for each DIP-STR marker, indicating population-specific patterns.
- African American, European American, and East Asian American samples showed clear clustering with their respective ancestral populations, while Southwest Hispanic samples exhibited expected admixture.
Conclusions:
- A small set of 10 DIP-STR markers demonstrates significant power in distinguishing between the studied U.S. population groups.
- The findings support the utility of DIP-STRs as effective ancestry informative markers, aligning with reference population data.
- This marker panel offers a valuable tool for population genetics studies and forensic applications involving ancestry estimation.
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