SNP
SNP or Single Nucleotide Polymorphism is a variation in a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population (e.g. > 1%).
Overview
Single Nucleotide Polymorphisms (SNPs) are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA.
SNPs occur normally throughout a person’s DNA. They occur almost once in every 1,000 nucleotides on average, which means there are roughly 4 to 5 million SNPs in a person's genome. These variations may be unique or occur in many individuals; scientists have found more than 100 million SNPs in populations around the world.
Importance of SNPs
Most SNPs have no effect on health or development. Some of these genetic differences, however, have proven to be very important in the study of human health. Researchers have found SNPs that may help predict an individual’s response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases. SNPs can also be used to track the inheritance of disease genes within families.
SNP in Genomic Research
Future genomic research will continue to explore the link between SNPs and human health. The International HapMap Project, for example, is developing a haplotype map of the human genome, which will help to identify the common patterns of human genetic variation. SNPs serve as biological markers, helping scientists locate genes that are associated with disease. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function.
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Contributors: Prab R. Tumpati, MD
