Tri-allelic pattern in CSF1PO: a case study

Paternity testing is a well-established application of forensic genetics, generally providing accurate results based on inheritance laws. However, in rare cases, genetic anomalies may arise, complicating the interpretation of DNA profiles and requiring careful evaluation. In this study, we describe a paternity case involving a rare tri-allelic pattern observed at the CSF1PO locus. To confirm the anomaly, genetic material from multiple family members was analysed using different kits. The pattern was consistently verified across all amplification attempts, demonstrating its reliability and its concordance with a specific individual. This case emphasises the importance of careful interpretation in genetic testing and considers the potential implications of such anomalies for DNA analysis. Furthermore, it calls for collaboration among forensic disciplines and experts to address similar findings in forensic and medical genetics.