Description: Nucleotide polymorphism refers to the occurrence of two or more different nucleotides at a specific position in the genome. This phenomenon is fundamental to the genetic variability of populations, as it can influence phenotypic traits and susceptibility to diseases. Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation in humans and can be found in both coding and non-coding regions of DNA. Their study allows researchers to identify associations between genetic variants and specific traits, as well as to better understand the evolution and adaptation of species. Additionally, SNPs are valuable tools in personalized medicine, as they can help predict an individual’s response to certain treatments or their risk of developing diseases. In summary, nucleotide polymorphism is an essential component of modern genetics, providing crucial information about genetic diversity and its impact on health and disease.
History: The concept of nucleotide polymorphism began to take shape in the 1980s when advances in DNA sequencing techniques allowed scientists to identify genetic variations in populations. In 1986, the discovery of SNPs was a significant milestone, as it was demonstrated that these variations were common in the human genome. Over the years, the Human Genome Project, completed in 2003, provided an extensive database on SNPs, facilitating their study and application in various fields of biology and medicine.
Uses: Nucleotide polymorphism is used in various applications, including genetic association studies, where the relationship between SNPs and diseases is investigated. It is also fundamental in personalized medicine, helping to predict responses to treatments and susceptibility to diseases. Additionally, it is employed in evolutionary research to understand how genetic variations affect species adaptation.
Examples: A practical example of nucleotide polymorphism use is the study of the SNP variant rs429358 in the APOE gene, which is associated with an increased risk of developing Alzheimer’s disease. Another case is the SNP rs1801133 in the MTHFR gene, which has been linked to issues in folate metabolism and may influence the risk of cardiovascular diseases.
