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

Entity: Universitat Rovira i Virgili (URV)

Confidenciality: No

Education area(s): Genètica, Física i Química Forense

APS: No

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

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.

Subject: ADN

Academic year: 2024-2025

Language: en

Work's public defense date: 2025-06-27

Subject areas: Biochemistry and biotechnology

Student: Gutiérrez Reyes, Ana Belén

Work's codirector: Gutiérrez Fornés, Cristina

Department: Bioquímica i Biotecnologia

Creation date in repository: 2025-11-26

Keywords: Forensic DNA Phenotyping, Single Nucleotide Polymorphisms, DPYD Genotyping

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

Access Rights: info:eu-repo/semantics/openAccess

Project director: Terra Barbadora, Ximena