Research Progress in Single-base Mutation Detection Methods and Applications

Single nucleotide mutation refers to a type of genetic mutation in which a single nucleotide in the genome sequence changes, which has been proven to be an important cause of biological organisms’ hereditary traits, susceptibility to diseases, and resistance to drugs. It has significant research significance in many fields, including genetics, disease diagnosis, and biological evolution. With the continuous development of nucleic acid detection technology, single nucleotide mutation detection technology provides critical assistance in assisting plant and animal breeding, detecting disease or microbe-related mutation sites, and guiding the use of therapeutic drugs. This review summarizes several common single nucleotide mutation detection methods, briefly introduces the principles, advantages, and limitations of each method, and lists the application situations of the technology in hereditary traits, disease diagnosis, virus detection, food adulteration, plant and animal breeding, and microbial resistance detection. It focuses on describing the rapid detection strategy of single nucleotide mutation based on the CRISPR/Cas system, and elaborates on the application of the system in different fields based on the precise identification of the target type, and analyzes it in combination with nucleic acid amplification technology. It also discusses the application and development trend of single nucleotide mutation detection technology in the future. © 2025 The Editorial Office of Biotechnology Bulletin. All rights reserved.