Journal of Applied Genetics最新文献

{"title":"Rapid and reliable molecular diagnosis of oculopharyngeal muscular dystrophy: a cost-effective alternative for PABPN1 gene (GCN)n repeat analysis.","authors":"M Vital, E Salazar, C Acordagoitia, C Vázquez, Patricia Esperón","doi":"10.1007/s13353-026-01115-1","DOIUrl":"https://doi.org/10.1007/s13353-026-01115-1","url":null,"abstract":"<p><p>Oculopharyngeal Muscular Dystrophy (OPMD) is a late-onset autosomal dominant disorder caused by an abnormal (GCN)n trinucleotide repeat expansion in exon 1 of the polyadenylate-binding protein nuclear 1 (PABPN1) gene. This expansion increases the polyalanine tract from a normal 10 to 11-18 repeats, leading to progressive muscle weakness. We evaluated the advantages of fragment analysis via a capillary electrophoresis system using a Gelbot device as a cost-effective alternative to Sanger sequencing for determining (GCN)n repeat numbers. A total of 90 genomic DNA samples primarily analyzed by Sanger sequencing were submitted to the above-mentioned capillary electrophoresis. This showed full concordance in the detection of expanded alleles. Compared to DNA sequencing, fragment analysis offered a faster turnaround time, a simpler workflow, and more straightforward result interpretation. Notably, this method requires less initial expenditure on instruments and avoids the need for fluorescently labelled primers and other reagents, which significantly reduces implementation costs. In conclusion, capillary electrophoresis-based fragment analysis provides a reliable, rapid, and accessible method for PABPN1 screening. It represents a practical diagnostic alternative for OPMD, particularly in laboratories with limited resources.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149080953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.","authors":"Murat Öztürk, Kübra Ateş, Zeynep Esener, Hatice Saraç, Büşra Yeninarcılar, Alperen Fettahlıoğlu, Cemal Ekici, Cemşit Karakurt, İsmail Dündar, Emine Çamtosun, Ayça Dilruba Aslanger, Zehra Oya Uyguner, İbrahim Tekedereli","doi":"10.1007/s13353-026-01112-4","DOIUrl":"10.1007/s13353-026-01112-4","url":null,"abstract":"<p><p>Marfanoid habitus represents a clinically heterogeneous phenotype observed in Marfan syndrome (MFS) and other hereditary connective tissue disorders; however, the diagnostic utility of multigene panel testing in this group remains incompletely defined. Marfanoid features encountered in clinical genetics practice are often partial, age-dependent, or overlapping and may not meet diagnostic criteria for a single disorder, limiting phenotype-based classification and supporting multigene testing. We retrospectively evaluated the diagnostic yield of a custom-designed NGS panel targeting OMIM-listed syndromes associated with marfanoid habitus in 62 patients referred between 2016 and 2022. Clinical and molecular data were reviewed, and MFS systemic scores were compared between groups. Variants were identified in 28 of 51 patients analyzed by the panel, including four with FBN1 variants. Based on ACMG criteria and clinical evaluation, 16 cases were classified as clinically definitive, two as clinically high-probability, and ten as clinically suspicious diagnoses. The diagnostic yield was 54.9% overall and 31.3% for clinically definitive cases. Exome sequencing in panel-negative patients identified seven variants across six additional genes. No significant difference in systemic scores was observed between variant-positive and variant-negative cases; however, patients with FBN1 variants had significantly higher scores than those with variants in other genes. ROC analysis demonstrated good discriminatory performance for FBN1-related cases (AUC = 0.80; 95% CI, 0.63-0.94), and each one-point increase in systemic score was associated with a 1.51-fold increase in the odds of harboring an FBN1 variant. These findings support tailored multigene panel testing as an effective diagnostic strategy in patients with marfanoid habitus.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149061165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of open-pollinated chilli lines for heterosis and combining ability under diverse Himalayan environments.","authors":"Ankush Chaudhary, Happy Dev Sharma, Amit Vikram, Meenu Gupta, Vipin Sharma, Anuj Sohi, Prakash Singathiya","doi":"10.1007/s13353-026-01113-3","DOIUrl":"https://doi.org/10.1007/s13353-026-01113-3","url":null,"abstract":"<p><p>Superior quality chilli for red ripe yield, processing, and pharmaceutical use is a major breeding objective in chilli. An experiment was conducted at three locations under diverse Himalayan agro-climatic zones. Twenty-one F₁ hybrids were developed by crossing seven diverse genotypes using a half diallel mating design to evaluate heterosis, combining ability and per se performance in a Randomized Complete Block design with three replications during summer 2021 and 2022. The open-pollinated varieties Him Palam Mirch 2, Punjab Guchhedar, Pusa Jwala and Pusa Sadabahar showed significant general combining ability for profitable red/dry fruit yield and most contributing traits. Ten F₁ hybrids were identified as superior for fruit yield and capsaicin content based on per se performance, significant heterosis, and specific combining ability effects. These included Him Palam Mirch 2 × Punjab Guchhedar, Pusa Sadabahar × DKC-8, Him Palam Mirch 2 × Him Palam Mirch 1, Pusa Jwala × Punjab Guchhedar, Him Palam Mirch 2 × Pusa Jwala, Him Palam Mirch 2 × DKC-8, Pusa Jwala × DKC-8, Surajmukhi × Pusa Sadabahar, Him Palam Mirch 2 × Pusa Sadabahar, and Him Palam Mirch 1 × DKC-8 across locations. A significant positive correlation of specific combining ability with economic heterosis and F₁ performance was observed for most of the traits. Beyond conventional heterosis analysis, this study integrates multi-location evaluation to identify hybrids with consistent performance and resilience traits. The dual utility of these hybrids for fruit yield and quality traits, along with their climate-resilient potential, provides new directions for chilli improvement programmes.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide identification of CHY zinc finger and RING finger (CHYR) genes in pepper and functional characterization of CaCHYR5 in response to Phytophthora capsici infection.","authors":"Meng Wang, Xueping Guo, Huiling Zhu, Jiajun Ye, Zhehan Wu, Youxin Yang, Yong Zhou","doi":"10.1007/s13353-026-01114-2","DOIUrl":"https://doi.org/10.1007/s13353-026-01114-2","url":null,"abstract":"<p><p>CHY zinc finger and RING finger (CHYR) proteins play crucial roles in the growth and development, as well as stress response. To date, no systematic or comprehensive analysis of the CHYR gene family has been performed in pepper (Capsicum annuum L.). In this study, we identified 8 CaCHYR genes (CaCHYR1-CaCHYR8), which were classified into 3 groups based on phylogenetic relationships. CaCHYR members within the same group exhibited similar distributions of conserved motifs and exon-intron structures. Chromosomal localization analysis showed that 8 CaCHYR genes were unevenly distributed on 6 chromosomes. Segmental duplication, rather than tandem duplication, was found to be the major contributor to the expansion of this gene family. CaCHYR genes feature a variety of cis-elements involved in developmental processes, phytohormone responses, and stress adaptation. Expression analysis based on RNA-seq data revealed that CaCHYR genes exhibited distinct spatial expression patterns across different tissues and in response to Phytophthora capsici infection (PCI), and quantitative real-time PCR (qRT-PCR) further confirmed that three of them (CaCHYR2, CaCHYR3, and CaCHYR5) exhibited altered expression under PCI. Furthermore, transient overexpression of CaCHYR5 in pepper leaves increased susceptibility to PCI, suggesting its potential negative regulatory role in pepper defense against P. capsici. Collectively, these findings reveal the expression patterns and regulatory functions of pepper CHYR genes in growth and development, laying a groundwork for breeding pepper cultivars tolerant to PCI.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148968749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimization of protoplast based DNA isolation and genome analysis in a gamma-irradiated Aspergillus niger mutant strain.","authors":"Ambreen Latif, Hazrat Ali, Muhammad Salman Haider, Noor Hassan, Iqra Latif Ghuman, Rubab Zahra Naqvi, Muhammad Bilal Khan Niazi, Asad Ali","doi":"10.1007/s13353-026-01111-5","DOIUrl":"https://doi.org/10.1007/s13353-026-01111-5","url":null,"abstract":"<p><p>Aspergillus niger is an important industrial fungus widely used for citric acid production and a range of biotechnological applications. In this study, a protoplast-based DNA isolation protocol was optimized for a gamma-irradiated A. niger AN-L103_M1 mutant strain, followed by whole-genome sequencing and functional genome analysis. Protoplast yield was strongly influenced by enzyme concentration and the molarity of the osmotic stabilizer. The highest yield was achieved at an enzyme concentration of 50 mg/mL (2.487 ± 0.04 × 10⁸ cells/mL) and 0.8 M KCl (2.550 ± 0.06 × 10⁸ cells/mL), with both factors showing significant effects (p < 0.0001) in GraphPad Prism 11.0.0. Whole-genome sequencing performed using an Illumina NovaSeq 6000 platform yielded a 37.06 Mb draft genome assembled into 537 contigs, with an N50 of 363,084 bp and a GC content of 48.2%. BUSCO 14 analysis showed high completeness (97.95% complete BUSCOs). Functional annotation and KEGG pathway mapping identified genes involved in glycolysis, the tricarboxylic acid cycle, and citrate biosynthesis, while biosynthetic gene cluster analysis revealed diverse potential for secondary metabolite production. These findings provide an optimized workflow for protoplast-based DNA isolation and genome-scale functional analysis in A. niger, proposing a basis for future comparative genomics, transformation studies, and experimentally validated metabolic engineering.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148945124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mining the sHSP20 (small heat-shock protein) gene family in finger millet (Eleusine coracana (L.) Gaertn.): structural, evolutionary and predicted abiotic-stress-responsive insights.","authors":"Shivani Tiwari, Neha Verma, Kritika Sharma","doi":"10.1007/s13353-026-01109-z","DOIUrl":"https://doi.org/10.1007/s13353-026-01109-z","url":null,"abstract":"<p><p>Small heat-shock proteins (sHSPs, the HSP20 family) are ATP-independent molecular chaperones that hold partially unfolded substrates and protect the proteome during heat and other abiotic stresses; every member is defined by a conserved α-crystallin domain (ACD). Finger millet (Eleusine coracana) is a climate-resilient, calcium-rich allotetraploid cereal of the semi-arid tropics whose HSP20 repertoire had not been catalogued. The present study is an entirely computational (in silico) analysis of the chromosome-scale reference genome of finger millet (NCBI GenBank assembly GCA_032690845.1, cultivar KNE 796-S). Mining the predicted proteome with the ACD profile (Pfam PF00011) and confirming every candidate by NCBI CD-search recovered 76 non-redundant ACD-bearing HSP20 genes (EcHSP20-1-EcHSP20-76). Based on phylogeny and TargetP-predicted localization, the members were classified into ten subfamilies: seven cytosolic/nuclear classes (C-I to C-VII, 60 members) together with chloroplastic (11), mitochondrial (3) and endoplasmic-reticulum (2) groups. The proteins ranged from 110 to 355 amino acids (12.1-39.2 kDa) with theoretical pI of 4.85-9.69. The 76 loci were distributed over 14 of the 18 chromosomes and were conspicuously absent from chromosomes 8 A, 8B, 9 A and 9B, with pronounced clustering on chromosomes 1, 2, 3 and 6. Duplication analysis detected 149 paralogous pairs (49 homoeologous, 80 segmental/dispersed and 18 tandem); 147 of 148 pairs for which substitution rates could be calculated returned Ka/Ks < 1 (mean 0.20), indicating strong purifying selection consistent with retention after whole-genome/allopolyploid duplication. Promoter analysis (PlantCARE) revealed enrichment of abscisic-acid-responsive (ABRE), MYB/MYC drought-related, STRE, DRE, low-temperature (LTR) and methyl-jasmonate/salicylic-acid elements, whereas canonical heat-shock elements (HSE) were not recovered. Expression profiling against a public drought transcriptome (SRP081350) showed that about half of the genes (39 of 76) are transcribed in leaf tissue, the expressed fraction being dominated by the cytosolic class C-I. This first finger-millet HSP20 catalogue provides a verified, reproducible framework and nominates computationally predicted candidate genes for future functional work on thermotolerance in cereals.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148891523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-trait model-based assessment of selection efficiency and stability in soybean germplasm.","authors":"Sachin Munde, Gopal Wasudeo Narkhede, Gali Suresh, Sandeep Shinde, Padmakar Wadikar, Ambika More, Hirakant Kalpande, K S Baig, Shivaji Mehtre","doi":"10.1007/s13353-026-01110-6","DOIUrl":"https://doi.org/10.1007/s13353-026-01110-6","url":null,"abstract":"<p><p>Soybean (Glycine max L. Merrill) productivity is strongly influenced by genotype × environment (G × E) interaction, while simultaneous improvement of yield, seed quality, and associated traits remains a major breeding objective. Twenty-two soybean genotypes were evaluated across eight environments representing four locations and two kharif seasons in Maharashtra, India, to identify genotypes combining desirable multi-trait performance, stability, and adaptability. Significant variation was found for all the traits studied, seed yield ranged from 0.26 to 1.68 kg plot^- 1 and protein content from 33.25 to 41.83%. Pooled analysis of variance showed highly significant effects of genotype, environment and G × E interaction. Number of pods per plant, plant height and protein content showed positive association with seed yield, while flowering and maturity duration showed negative association with seed yield. Factor analysis of MGIDI explained 71.6% of the total variance with 3 factors. WAASB and WAASBY analyses provided complementary information on genotype stability and performance-stability relationships. The multi-trait selection methods MGIDI, MTSI, MTMPS and FAI-BLUP identified overlapping sets of desirable genotypes and the coincidence analysis showed consistency of the selection criteria. MAUS 725 (G10) and KDS 992 (G13) were consistently identified as promising genotypes, combining favourable seed yield, yield-related traits, seed quality, and stability across the evaluated environments. These genotypes can be used for further multi-environment validation and potential parents in soybean improvement program. The integration framework improved selection by including multi-trait desirability, stability and BLUP based prediction for more reliable breeding decisions.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of founder breeds on genotype imputation accuracy in Canchim cattle.","authors":"Roney Teixeira, Maria Victória Henrique Genuíno, Ayrton Fernandes de Oliveira Bessa, Giovanna Maria Dos Santos Câmara, Ana Carolina de Jesus Oliveira, Josineudson Augusto Ii de Vasconcelos Silva, Lucio Flavio Macedo Mota, Fernando Baldi, Luciana Correia de Almeida Regitano, Cintia Righetti Marcondes, Priscila Arrigucci Bernardes, Donagh Pearse Berry, Danísio Prado Munari, Marcos Eli Buzanskas","doi":"10.1007/s13353-026-01060-z","DOIUrl":"10.1007/s13353-026-01060-z","url":null,"abstract":"","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"805-810"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147698785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extricating the allelic variation, population structure and genetic potential in buckwheat genotypes and substantiation of high yielding and stable genotypes with superior biochemical quality.","authors":"Sunandan Swain, Bingiala Laloo, Partha Protim Dutta, Simardeep Kaur, Letngam Touthang, Veerendra Kumar Verma, Rahul Chandora, Satish Kumar Yadav, Amit Kumar","doi":"10.1007/s13353-025-01028-5","DOIUrl":"10.1007/s13353-025-01028-5","url":null,"abstract":"<p><p>Buckwheat is an underutilized crop with high nutritional values and antioxidant properties. The study was conducted with an aim to assess the genetic variability of 37 Fagopyrum esculentum Moench. and 67 Fagopyrum tataricum Gaertn. accessions using agro-morphological, biochemical, and microsatellite markers. For yield per plant, accessions, namely, IC24297, IC26591, and IC13413, with superior performances were identified. Based on correlations and regression-based path analysis, the key component traits, namely, number of seeds per plant, 100-seed weight, leaf blade width, seed width, and cyme length, were identified. Among F. esculentum group, EC18771, IC107238, and IC107265 had the highest carbohydrate, protein, and the lowest phytic acid, respectively. Likewise, IC24297, EC18769, and IC26596, with the highest carbohydrate, protein, and lowest phytic acid content, respectively, were identified under the F. tataricum group. By analyzing 65 SSR markers, an average of 2.63 alleles per locus was detected, with an average PIC value of 0.431. The observed heterozygosity for the polymorphic markers varied from 0.019 (Fagopyrum tataricum) to 0.462 (Fagopyrum esculentum), with an average of 0.099, showing the lower level of expected heterozygosity in tartary buckwheat accessions. Based on Nei's genetic distances, the buckwheat accessions were grouped into three clusters. Clusters I and III included the tartary accessions, while Cluster II encompassed both species. The AMOVA, conducted by categorizing the accessions into 25 subpopulations, indicated that 80% of the observed variation was due to differences among individuals, whereas 19% was due to within individuals. Based on additive main effects and multiplicative interaction (AMMI) and multi-trait stability index (MTSI) analyses, accessions, namely, IC13141, IC49667, IC26587, IC107983, and IC107981, have been identified as the best accessions, exhibiting high mean yield and stability across all three environments, and could be utilized in augmenting the buckwheat cultivation.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"573-594"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145470871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distribution of mrk genes among uopathogenic Klebsiella pneumoniae.","authors":"Abbas Fallah Vosoughi, Fatemeh Foroohi, Shervindokht Ahmadi, Maryam Shirzadian, Taha Golpasand, Payam Behzadi","doi":"10.1007/s13353-026-01079-2","DOIUrl":"10.1007/s13353-026-01079-2","url":null,"abstract":"<p><p>The mrk operon gene clusters encode type 3 fimbriae, involving in biofilm formation. Hence, we aimed to find out the distribution of mrk genes among uropathogenic Klebsiella pneumoniae (UPKP) strains. Moreover, mrk genes, hypermucoviscosity (HMV) characteristic and antimicrobial resistance (AMR) patterns and profiles were successfully, provided. From August 2023 to January 2024, 104 positive urine samples were collected. Standard microbiological and biochemical tests were employed to confirm the UPKP strains. Kirby-Bauer disc diffusion method was recruited to conduct antimicrobial susceptibility test (AST). The HMV characteristic in UPKP isolates was assessed using the string test. Finally, multiplex polymerase chain reaction (mPCR) was used to identify mrk genes distribution. Chi-square (χ²) and Fisher's exact tests were utilized for statistical analysis. The mrk gene distribution varied among the UPKP isolates comprising mrkA (1.92%), mrkB (0.00%), mrkC (5.77%), mrkD (23.08%), mrkE (37.50%), and mrkF (83.65%). No mrk genes were detected among 13.46% (14/104) of UPKP isolates. The most common mrk gene patterns involved mrkF (32.70%), mrkE-mrkF (25.00%), and mrkD-mrkF (11.54%). In addition, the isolates exhibited diverse AMR profiles and phenotypes including: 65 multi-drug resistant (MDR) strains (nine groups, 42 patterns), 13 extensively drug-resistant (XDR) strains (nine patterns), nine pan drug-resistant (PDR) strains, 23 ESBL producers, and nine HMV isolates. None of the HMV strains displayed XDR, PDR, or ESBL phenotypes, suggesting limited horizontal gene transfer (HGT). Detailed analysis of mrk genes and AMR characteristics in UPKP, provides essential information for selecting effective prevention protocols and treatments for urinary tract infections (UTIs) and combating AMR.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"821-837"},"PeriodicalIF":2.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148271643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}