Aim: To evaluate the effect of genetic instability and degradation in archived histology samples from cancerous tumors and to investigate the validity of short tandem repeat (STR) typing of these samples and its potential effect on human identification.
Methods: Two hundred and twenty eight slides of archival pathology tissues from 13 different types of malignant tumors were compared with healthy tissues from the same individuals. DNA analysis was performed using standard techniques for forensic STR analysis, PowerPlex16 and Identifiler on 2 distinct sample sets. Genetic instability was assessed by comparing reference tissues with cancerous tissues derived from the same individual. Loss of heterozygosity, a > or =50% reduction in heterozygosity ratio between healthy and diseased samples, and microsatellite instability, the presence of an additional allele not present in reference tissue, were assessed. The quality of profiles obtained with respect to completeness among the archived samples and degradation using the 2 platforms were also compared.
Results: Profiles obtained using the Identifiler system were generally more complete, but showed 3-fold higher levels of instability (86%) than those obtained using PowerPlex 16 (27%). Instances of genetic instability were distributed throughout all loci in both multiplex STR systems.
Conclusion: After having compared 2 widely used forensic chemistries, we suggest individual validation of each kit for use with samples likely to exhibit instability combined with fixation induced degradation or artifact. A "one size fits all" approach for interpretation of these samples among commercially available multiplexes is not recommended.
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http://dx.doi.org/10.3325/cmj.2009.50.218 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Physiology and Biophysical Sciences, State University of New York at Buffalo, Buffalo, NY 14214.
Ion channels are generally allosteric proteins, involving specialized stimulus sensor domains conformationally linked to the gate to drive channel opening. Temperature receptors are a group of ion channels from the transient receptor potential family. They exhibit an unprecedentedly strong temperature dependence and are responsible for temperature sensing in mammals.
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January 2025
Génétique Quantitative et Evolution - Le Moulon, INRAE, CNRS, AgroParisTech, Université Paris-Saclay, Gif-sur-Yvette, France.
Elucidating the genetic components of plant genotype-by-environment interactions is of key importance in the context of increasing climatic instability, diversification of agricultural practices and pest pressure due to phytosanitary treatment limitations. The genotypic response to environmental stresses can be investigated through multi-environment trials (METs). However, genome-wide association studies (GWAS) of MET data are significantly more complex than that of single environments.
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January 2025
Department of Anesthesiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.
The presence of specific genetic mutations in patients with glioblastoma multiforme (GBM) is associated with improved survival outcomes. Disruption of the DNA damage response (DDR) pathway in tumor cells enhances the effectiveness of radiotherapy drugs, while increased mutational burden following tumor cell damage also facilitates the efficacy of immunotherapy. The ATRX gene, located on chromosome X, plays a crucial role in DDR.
View Article and Find Full Text PDFCells
December 2024
Karmanos Cancer Institute, Department of Oncology, School of Medicine, Wayne State University, 4100 John R Street, Detroit, MI 48201, USA.
The DNA replication machinery is highly conserved from bacteria to eukaryotic cells. Faithful DNA replication is vital for cells to transmit accurate genetic information to the next generation. However, both internal and external DNA damages threaten the intricate DNA replication process, leading to the activation of the DNA damage response (DDR) system.
View Article and Find Full Text PDFHeliyon
January 2025
Faculty of Medicine, University of Surabaya, Surabaya, 60292, Indonesia.
Nasopharyngeal cancer (NPC), although rare in young individuals worldwide, is significantly influenced by the Epstein-Barr virus (EBV). Considering EBV's widespread prevalence, understanding its role in NPC's future occurrence, disease progression, clinical symptoms, metastatic tendencies, and prognosis is crucial. In this study, we extensively analyzed two young patients with NPC, who displayed distinct clinical features.
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