Gross deletions in the F9 gene are easily detected by routinely sequencing hemophilia B-affected men. Nevertheless, a carrier diagnosis proves difficult as the presence of a normal allele does not recognize the partial or complete loss of the F9 gene and may be challenging if no DNA sample from affected men is available. This work aimed to identify hemophilia carriers in 2 families in which gross deletions of the F9 gene could be expected. The indirect genetic study was not conclusive, and sequencing did not show genetic defects in family 1. A real-time polymerase chain reaction (RT-PCR) assay using SYBR Green revealed the deletion of a copy of exon 8 in 3 women, whereas the multiple ligation-dependent probe amplification (MLPA) assay showed the deletion of a copy of exons 7 and 8 in these 3 women. These studies enabled us not only to rule out a pregnant woman as a carrier but also to confirm a complete deletion of the gene in the patient from family 2 and the heterozygous state of his mother. The advantages that the MLPA method offers are the identification of a multiple exon deletion in the same assay and commonly used technology. The RT-PCR technology used involves standardizing and analyzing each exon independently.
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http://dx.doi.org/10.1016/j.trsl.2008.12.006 | DOI Listing |
Biol Direct
January 2025
Department of Urology, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, Guangxi, China.
Introduction: Diabetic nephropathy (DN) is a common diabetes-related complication with unclear underlying pathological mechanisms. Although recent studies have linked glycolysis to various pathological states, its role in DN remains largely underexplored.
Methods: In this study, the expression patterns of glycolysis-related genes (GRGs) were first analyzed using the GSE30122, GSE30528, and GSE96804 datasets, followed by an evaluation of the immune landscape in DN.
BMC Pulm Med
January 2025
İzmir International Biomedicine and Genome Institute, Dokuz Eylül University, İzmir, Türkiye.
Purpose: The inflammatory response in animal models of chronic obstructive pulmonary disease (COPD) is activated by the NLR-family-pyrin-domain-containing-3 (NLRP3) inflammasome pathway, which is also known to play a role in obesity-related inflammation. The NLRP3/caspase-1/interleukin (IL)-1β pathway might be involved in the progression of COPD with increasing body mass index. To our knowledge, no previous studies have explored the role of NLRP3 inflammasome markers in linking COPD and obesity.
View Article and Find Full Text PDFBMC Biotechnol
January 2025
CAIQ Center for Biosafety, Chuangyi Rd, Yazhou District, Sanya, Hainan Province, 572024, China.
Background: Food safety is a significant global study subject that is strongly intertwined with human life and well-being. The utilization of DNA-based methods for species identification is a valuable instrument in the field of food inspection and regulation. It is particularly significant for traceability purposes, as it enables the monitoring of a specific item at every level of the food chain regulation.
View Article and Find Full Text PDFBMC Microbiol
January 2025
Laboratory of Comparative Pathology, Faculty of Veterinary Medicine, Hokkaido University, Kita 18 Nishi 9, Kita-Ku, Sapporo, Hokkaido, 060-0818, Japan.
Background: Glanders and melioidosis are contagious zoonotic diseases caused by Burkholderia mallei and B. pseudomallei, respectively. Bacterial isolation and polymerase chain reaction (PCR) have been used to detect these bacteria in animals suspected of infection; however, both methods require skilled experimental techniques and expensive equipment.
View Article and Find Full Text PDFMol Med
January 2025
Jaseng Spine and Joint Research Institute, Jaseng Medical Foundation, Gangnamdae-ro 540, Seoul, 135-896, Republic of Korea.
Background: Inflammation is a critical protective response in the body, essential for combating infections and healing injuries. However, chronic inflammation can be harmful and significantly contribute to the development and progression of chronic diseases, with macrophage-mediated responses being central to these processes. This study presents "SBR-Pel," a new therapeutic blend of Shinbaro tab (SBR), a traditional herbal formula, and pelubiprofen (Pel), a non-steroidal anti-inflammatory drug, and investigated their combined anti-inflammatory effects to create a treatment that both improves efficacy and reduces side effects.
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