فهرست نشریات علمی دسترسی آزاد ایران

The retinal pigment epithelium (RPE) cells are a single layer of cells with specific functions in vision. The Mertkgene, encoding a receptor tyrosine kinase, is critical for the phagocytic function of retinal RPE cells. Mutationsin Mertk disrupt RPE function and contribute to retinal degeneration. This study aims to characterize the Mertkmutation in Royal College of Surgeons (RCS) rats and develop a polymerase chain reaction (PCR)-based methodfor genotyping these mutations to improve colony management. DNA was extracted from mutant Mertk−/− andwild-type rats, followed by PCR amplification using primers flanking the deletion region. Sequencing of the PCRproducts was performed to identify the precise nature of the mutation. A PCR-based genotyping method wasthen developed to distinguish between homozygous and heterozygous mutants. Sequencing revealed a 1850 bpdeletion in the Mertk gene, resulting in a truncated protein that potentially impairs RPE phagocytosis. The newlydeveloped PCR method successfully differentiated between homozygous and heterozygous mutant rats. Thisgenotyping technique proved to be efficient and reliable, facilitating the management of rat colonies for researchpurposes. This study provides a detailed molecular characterization of the Mertk mutation in RCS rats, enhancingour understanding of Mertk-related retinal degenerative diseases. The development of a robust PCR-basedgenotyping method enables efficient differentiation of rat genotypes, aiding in the creation and maintenance of ratmodels for future research. These findings underscore the importance of molecular characterization in advancingour understanding of genetic models and improving research meth odologies.