Background and Aim. Staphylococcal food poisoning is caused by the consumption of food contaminated with Staphylococcus aureus and represents a global public health concern. Food products of animal origin can serve as reservoirs for multi-drug resistant strains of S. aureus. This study aimed to characterize the microbiological and molecular genetic properties of S. aureus isolated from raw horse meat. Materials and Methods. Species identification of S. aureus was performed using 16S rRNA gene analysis and matrix assisted laser desorption/ionization time-of-flight mass spectrometry. The sensitivity of the isolate to antibiotics was investigated using the disc diffusion method. Genetic determinants of resistance were identified using whole genome sequencing. High-throughput sequencing was performed on an Illumina MiSeq platform. DNA quantity was assessed spectrophotometrically, and quality was evaluated by electrophoresis on a 1% agarose gel. Genome assemblies based on short reads were obtained using SPAdes v. 4.0.0. Assembly quality assessment, organism verification, and initial annotation were performed using FastQC v.0.11.9. Antibiotic resistance genes were identified using the CARD and PATRIC databases. Results. The S. aureus 76_KZ strain was isolated from a raw horse meat sample. Morphologically, it is a Gram-positive coccus arranged in irregular clusters resembling grape bunches. The identified antibiotic resistance profile of S. aureus 76_KZ characterizes this strain as a multidrug resistant isolate with sensitivity to a limited spectrum of antibacterial drugs. This study presents the results of wholegenome sequencing of S. aureus isolated from raw horse meat in the Republic of Kazakhstan. The sequencing yielded a genome coverage of 173×. The sequenced genome of the S. aureus 76_KZ isolate, consisting of 2.616.354 bp, has been deposited in the GenBank genetic database under accession number JBNBZR000000000.1. Conclusion. The whole-genome data obtained for S. aureus 76_KZ enable the assessment of the isolate's resistance to antimicrobial drugs and facilitate the identification of genetic features relevant to epidemiological typing.

Introduction.Alport syndrome is a rare multisystem disorder caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. The relevance of studying Alport syndrome is due to its high frequency among inherited kidney diseases, its extreme genetic and phenotypic heterogeneity, the difficulty interpreting clinical and genetic diagnostic methods, and the presence of significant population differences in the frequency and spectrum of specific mutations.The aimof this study is to analyze whole-exome sequencing data in patients with clinical and laboratory suspicion of Alport syndrome to assess the diagnostic value of WES, characterize the spectrum of detected genetic variants, and identify factors influencing the effectiveness of molecular genetic diagnostics. Methods.Genomic DNA was isolated from blood samples of patients with suspected Alport syndrome. Whole-exome sequencing of the samples was performed, along with bioinformatic and statistical processing of the sequencing data.Results.Apreviously undescribed mutation in the intronic region of the COL4A5 gene, c.1588-2A>G, was identified, likely associated with Alport syndrome.Conclusions.This study highlights the importance of population genetic studies of Alport syndrome, particularly the study of the intronic regions of the COL4A3, COL4A4, and COL4A5 genes.Keywords:Alport syndrome, X-linked Alport syndrome, whole-exome sequencing, genotype-phenotype correlation, splicing disorders.

Ultra-multiplex PCR has become essential for targeted amplicon sequencing in molecular biology and clinical genetics. We implemented PCRpanel, a command-li

Background: Alport syndrome is a hereditary disorder caused by defects in the type IV collagen network. Although exon variants are primarily associated with Alport syndrome, the clinical significance of intronic variants remains incompletely characterized. The aim of this study was to characterize the clinical and molecular features of a familial case of Alport syndrome associated with the intronic variant c.1588-2A>G and to assess its impact using in silico tools. Case description: Two affected siblings presented with hematuria, proteinuria, and renal biopsy demonstrated focal global and segmental glomerulosclerosis, findings consistent with Alport syndrome. Whole-exome sequencing was subsequently performed in patients. The variant (NM_033380.2, c.1588-2A>G) in intron 23 of the COL4A5 gene was identified in both probands. SpliceAI analysis demonstrated a complete loss of the canonical acceptor site and a high probability of cryptic site activation. Conclusion: The evidence suggests a likely pathogenic role of the COL4A5 c.1588-2A>G variant in Alport syndrome.