SNPs (pronounced "ess-en-pees") are single nucleotide polymorphisms, which are variations in a single nucleotide in DNA. The spelling of "SNPs" uses the initialisms "S" for "single," "N" for "nucleotide," and "P" for "polymorphism," with an "S" at the end to indicate the plural form. The pronunciation uses the phonetic symbols /ˈɛsənpiːz/, with the emphasis on the first syllable and the final sound being a "z" sound. SNPs are important in genetics research as they can be used as markers for disease susceptibility and drug response.
Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation found among individuals. They refer to a single nucleotide substitution that occurs at a specific position in the genome, resulting in alternative forms of a specific DNA sequence. SNPs can be found in both coding and non-coding regions of the genome and can have various effects on an organism's traits or susceptibility to diseases.
Each SNP represents a difference in a single DNA building block, known as a nucleotide, and is typically bi-allelic, meaning it has two possible variations: the more common allele and the less common allele. These variations can occur in any of the four DNA bases: adenine (A), thymine (T), cytosine (C), or guanine (G). The different combinations of alleles at specific SNP positions create genetic diversity among individuals.
SNPs are an essential tool for studying genetic variation and its role in human health and disease. They can act as markers for tracking diseases and genetic traits within populations, as well as help researchers understand the genetic basis of traits, susceptibility to diseases, drug responses, and other complex biological phenomena. By analyzing the presence, frequency, and distribution of specific SNPs in populations, scientists can draw correlations between specific genetic variations and particular phenotypes or outcomes.
The identification and study of SNPs have revolutionized fields such as genome-wide association studies, pharmacogenomics, personalized medicine, and forensic genetics, providing valuable insights into the genetic underpinnings of human biology and disease.
The acronym "SNPs" stands for Single Nucleotide Polymorphisms. The word "polymorphism" stems from the Greek words "poly" (meaning many) and "morphē" (meaning form or shape). It refers to the occurrence of multiple forms or variations of a specific nucleotide (adenine, thymine, cytosine, or guanine) at a particular position in the DNA sequence. The term "single nucleotide" emphasizes that the variation occurs at a single base pair. The word "SNP" was coined to describe these common genetic variations.