Development and validation of a novel 29-plex Y-STR typing system for forensic application

Area of Science:

• Forensic Genetics
• Human Population Genetics

Background:

• Short tandem repeats (STRs) on the Y-chromosome (Y-STRs) are crucial for forensic applications like mixture identification and relationship testing.
• Existing Y-STR genotyping systems may lack sufficient discriminatory power for complex familial relationships and population studies.

Purpose of the Study:

• To develop and validate a novel Y-STR 29-plex typing system with enhanced discriminatory capacity.
• To improve the resolution of genetic relationships and haplogroup classification in male populations.

Main Methods:

• A new 29-plex Y-STR typing system was created, combining 17 established Y-STR loci with 12 additional loci (8 low-medium mutation rate, 4 rapid mutation rate).
• The system was rigorously tested on 752 individuals, evaluating sensitivity, specificity, mixture resolution, reproducibility, accuracy, and population genetics according to SWGDAM guidelines.

Main Results:

• The Y-STR 29-plex system demonstrated high sensitivity, male and species specificity, and excellent mixture resolution.
• Reproducibility, accuracy, and precision were confirmed, showing robustness for familial searching and paternal biogeographic ancestry inference.

Conclusions:

• The novel Y-STR 29-plex typing system is a time-efficient, accurate, and reproducible tool for forensic genetics.
• This system significantly advances the capabilities for male identification, familial searching, and understanding paternal lineage and population structure.