Genetic Tools and Techniques in Forensic Science—an In-Depth Look at the Process of Quantification of Forensic Samples

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Technologies and Resources for Genetics".

Deadline for manuscript submissions: closed (15 May 2024) | Viewed by 663

Special Issue Editor


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Guest Editor
SOD Diagnostica Genetica, Azienda Ospedaliero Universitaria Careggi, 50134 Florence, Italy
Interests: forensic genetics; Italian NDA database; ISO/IEC 17025:2017; validation studies; short tandem repeats; capillary electrophoresis; DNA quantification

Special Issue Information

Dear Colleagues,

The quantification of human DNA extracts from forensic samples plays a key role in the forensic genetics process. In real casework, a trace may not always contain human biological material, rather the biological traces at crime scenes may not be of human origin. Furthermore, the amount of DNA in a sample can vary between tens or hundreds of nanograms. Quantification guarantees maximum efficiency and avoids repeated analyses, overamplified samples or unnecessary examinations.

This Special Issue is dedicated to the classic and latest quantitative techniques, studying the status, role, and future of quantification in forensic genetics. We also look forward to receiving other related papers.

Dr. Ugo Ricci
Guest Editor

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Keywords

  • forensic genetics
  • ISO/IEC 17025:2015
  • accreditation
  • internal validation
  • contamination prevention
  • risk management
  • quality control

Published Papers (1 paper)

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Research

14 pages, 2200 KiB  
Article
Assessing DNA Degradation through Differential Amplification Efficiency of Total Human and Human Male DNA in a Forensic qPCR Assay
by Elena Chierto, Serena Aneli, Nicola Nocco, Alessia Riem, Martina Onofri, Eugenia Carnevali and Carlo Robino
Genes 2024, 15(5), 622; https://doi.org/10.3390/genes15050622 - 14 May 2024
Viewed by 296
Abstract
The assessment of degradation is crucial for the analysis of human DNA samples isolated from forensic specimens. Forensic quantitative PCR (qPCR) assays can include multiple targets of varying amplicon size that display differential amplification efficiency, and thus different concentrations, in the presence of [...] Read more.
The assessment of degradation is crucial for the analysis of human DNA samples isolated from forensic specimens. Forensic quantitative PCR (qPCR) assays can include multiple targets of varying amplicon size that display differential amplification efficiency, and thus different concentrations, in the presence of degradation. The possibility of deriving information on DNA degradation was evaluated in a forensic qPCR assay not specifically designed to detect DNA fragmentation, the Plexor HY (Promega), by calculating the ratio between the estimated concentrations of autosomal (99 bp) and Y-chromosomal (133 bp) targets (“[Auto]/[Y]”). The [Auto]/[Y] ratio measured in 57 formalin-fixed, paraffin-embedded samples was compared to a quality score (QS) calculated for corresponding STR profiles using quantitative data (allele peak height). A statistically significant inverse correlation was observed between [Auto]/[Y] and QS (R = −0.65, p < 0.001). The [Auto]/[Y] values were highly correlated (R = 0.75, p < 0.001) with the “[Auto]/[D]” values obtained using the PowerQuant (Promega) assay, expressly designed to detect DNA degradation through simultaneous quantification of a short (Auto) and a long (D) autosomal target. These results indicate that it is possible to estimate DNA degradation in male samples through Plexor HY data and suggest an alternative strategy for laboratories lacking the equipment required for the assessment of DNA integrity through dedicated qPCR assays. Full article
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