Rapidly mutating Y-chromosomal short tandem repeats (RM Y STRs) with mutation rates ≥ 10−2 per locus per generation are valuable for differentiating amongst male paternal relatives where standard Y STRs with mutation rates of ≤10−3 per locus per generation may not. Although the 13 RM Y STRs commonly found in commercial assays provide higher levels of paternal lineage differentiation than conventional Y STRs, there are many male paternal relatives that still cannot be differentiated. This can be improved by increasing the number of Y STRs or choosing those with high mutation rates. We present a RM Y STR multiplex comprising 19 loci with high mutation rates and its developmental validation (repeatability, sensitivity and male specificity). The multiplex was found to be robust, reproducible, specific and sensitive enough to generate DNA profiles from samples with inhibitors. It was also able to detect all contributor alleles of mixtures in ratios up to 9:1. We provide preliminary evidence for the ability of the multiplex to discriminate between male paternal relatives by analyzing large numbers of male relative pairs (536) separated by one to seven meioses. A total of 96 mutations were observed in 162 meioses of father–son pairs, and other closely related male pairs were able to be differentiated after 1, 2, 3, 4, 5, 6 and 7 meiosis in 44%, 69%, 68%, 85%, 0%, 100% and 100% of cases, respectively. The multiplex offers a noticeable enhancement in the ability to differentiate paternally related males compared with the 13 RM Y STR set. We envision the future application of our 19 RM Yplex in criminal cases for the exclusion of male relatives possessing matching standard Y STR profiles and in familial searching with unknown suspects. It represents a step towards the complete individualization of closely related males.
Background: The human microbiome is a treasure trove of biological importance that plays countless roles in the metabolism, immunity, and overall health of the host. Conversely, it actively contributes to the emergence of numerous pathological conditions, such as cancer. The last 10 years has seen a great deal of exploration and investigation into the mysterious relationship between breast cancer and the human microbiome. This study aims to conduct a bibliometric analysis to explore the role of microbiome in breast cancer, identifying key research trends and potential microbial markers.Methodology: The Web of Science (WoS) database was queried between 2013 and July 10, 2023. Analysis was carried out using R for papers with the terms “Breast Cancer,” “Bacteria,” and “Inflammation,” and a total of 339 articles published in the last decade were reviewed.Results: After 2019, there was a rise in the number of publications. The United States was the most dominant and had the highest level of collaborations. Breast cancer, inflammation, bacteria, dysbiosis, and the microbiome were the most frequently used keywords. With 11 papers published, “Cancers” was the most cited source for studies on breast cancer etiology, pathophysiology, and inflammation caused by bacteria.Conclusion: Despite that microbial signatures have been established for various subtypes of breast cancer, the crux of healthy microbiome yet needs to be detected. This review represents a modest attempt to compile the body of knowledge regarding the relationship between breast cancer and the human microbiome.
1 January 2025 in Interdisciplinary Perspectives on Infectious Diseases
Chikungunya virus (CHIKV), an arbovirus transmitted by Aedes mosquitoes, has caused massive global epidemics, where it causes periodic outbreaks of febrile illness. In recent years, it has afflicted populations of Africa, South America, and Southeast Asia. Aedes albopictus and Aedes aegypti mosquitoes are the carriers of the virus causing severe clinical manifestations with multiorgan involvement which can last for years and have a significant negative impact on the health, quality of life, and ability to work and are the hallmarks of chikungunya fever. The effects of climate change as well as increased globalization of trade and travel have led to growth of the habitat of Aedes mosquitoes. As a result, increasing numbers of people will be at risk of chikungunya fever in the coming years. In the absence of specific antiviral treatments and with vaccines still in development, surveillance and vector control are essential to suppress re‐emergence and epidemics. This review discusses the role of oxidative stress and inflammation in pathogenesis, therapeutic potential of antioxidants, preventive methods like vector control, public health education, and molecular techniques for early detection. A holistic review of literature from 2002 to 2024 was carried out using the Web of Science database to observe disease prevention and diagnostic advancements, particularly in vaccine research highlighting the continuous global public health initiatives aimed at reducing the virus’s effects. To prevent epidemics from resurfacing, however, constant monitoring and vector control are necessary.
15 July 2020 in Lahore Garrison University Journal of Life Sciences
Forensic Science is robustly associated with DNA that has a complex genetic blue print information intended to resolve the queries related to civil cases, judiciary, investigatory purposes and crime scenes. The study was carried out to contribute the data set of RMYSTRs (Rapidly Mutating YSTRs) globally. The study focused on the significance of using RM-YSTRs as compared to the set of 9-17 YSTRs (mutation rate 1 × 10-2), as the later one is not being able to attain a high magnitude of male relatives differentiation. In the present work, 100 Sindh DNA male samples were collected, by genotyping the amplified samples, using RM-YSTRs, having a mutation rate of 1 × 10-3. Forensic efficiency parameters such as, PIC (Polymorphism Information Content) was observed in the range of 0.7745 at locus DYS576 to 0.9313 at locus DYF399S1b, maximum gene diversity (0.9350) was found at locus DYF399S1b, minimum gene diversity (0.7978) was seen at locus DYS576. Highest value of allele frequency was found as 0.350 with the allele no 18 at locus DYS576. The results had shown that haplotype frequency and haplotype diversity value were 0.010 and 0.99297, as no haplotype was repeated, which highlighted on the fact that nearly complete male individualization can be obtainedusing RM YSTRs, thus helpful in avoiding the adventitious matches or exclusion or inclusion of male relatives in forensics cases work. It might be an initiative towards establishing RM YSTR database of Pakistani Sindhi population.