Role of PCR in Mutation Detection and Precision Medicine: Methods, Case Studies, and Optimization Strategies
Abstract
Polymerase Chain Reaction (PCR) is one of the foundations of molecular genetics because it can be used to detect genetic mutations rapidly, sensitively, and specifically. This study examines the principles, types, and uses of PCR methods in the analysis of mutation such as conventional PCR, real-time PCR, digital PCR, multiplex PCR, and allele-specific PCR. The research paper analyzes the optimization strategies of PCR, influences on accuracy, sensitivity and specificity, and the clinical diagnosis limitations. The essential role played by PCR in the identification of single nucleotide polymorphism (SNP), insertion and deletion mutant and genetic changes in cancer is discussed as well as its use in inherited genetic disorders and pharmacogenomics. Comparative studies to next-generation sequencing (NGS) highlight the benefits of PCR in a fast, sensitive, and specific method of detecting mutations in the human genome, with future outlooks in precision medicine demonstrating its changing impact in the areas of personalized diagnostics, liquid biopsy, and point-of-care tests. The examples of PCR application in oncology, prenatal screening, and the management of genetic disorders are characterized by case studies. The study finds PCR-based methods to be invaluable in both research and clinical practice and deliver accurate, reproducible, and cost-effective instruments in the detection of mutations. The future of technology holds more possibilities of being integrated in the field of precision medicine that provides better early diagnosis, monitoring of therapy, and personalized treatment plans.
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Authors
Copyright (c) 2024 Hana Sulaiman Alruwaili, Shuaa Sahw Alsirhani, Mona Abdulhadi Shegdar , Amal Mubarak Al-Kuwaikibi, wafi mazi Alshammari, Miad Mohsen Alruwaili, Salman Mohamed Alruwaili , Ali Nashme Gohem Rewely, Amani Abdullah Faisal Albadewi, Amal Shaffaqah Alshammari , Samar Ahmad Breagesh, Lamyaa sami kilabi
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