Phenotypic prediction in forensic genetics: Evaluation of Real-Time PCR with Melting Curve Analysis for SNP detection

Identifier:  TFM:2192

Handle: https://hdl.handle.net/20.500.11797/TFM2192

Authors:  Gutiérrez Reyes, Ana Belén

Abstract:
Single nucleotide polymorphisms (SNPs) are key genetic markers used in pharmacogenetics, phenotypic prediction, and forensic genetics. This study assessed the forensic potential of real-time PCR with melting curve analysis for genotyping within Forensic DNA Phenotyping (FDP). Four clinically relevant DPYD variants linked to fluoropyrimidine toxicity were analyzed in clinical samples. Results showed reliable variant detection and accurate genotype assignment. However, forensic limitations include high DNA input requirements, difficulty with mixed profiles, and higher per-SNP costs compared to NGS. Despite this, the method offers advantages for degraded DNA and rapid processing, though extensive forensic validation and population-specific optimization are needed.