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Single Nucleotide Polymorphisms

Single nucleotide polymorphisms or SNPs are the variations in the DNA sequence that happen when a single nucleotide (A, T, C or G) in genome sequence is changed or altered.

For a certain variation or change to be considered as an SNP it must happen in at least one per cent of the population. SNPs that make up about 90 per cent of all human genetic variations happen every 100 to 300 bases along the 3 billion base human genome. Two out of every three SNPs actually involve the replacement of cytosine with thymine. SNPs can happen in both the coding and noncoding regions of the genome. Cell function is not affected by SNPs but many scientists have expressed their belief that there are others that can make some people more predisposed to acquiring a disease or influencing the way their body would respond to a drug.

Even though more than 99 per cent of human DNA sequences are similar across large sections of the population, the subtle variations in the DNA sequence can potentially have a very major effect on how humans would respond to certain diseases, environmental pathogens like bacteria and viruses, substances like toxins and chemicals, as well as drugs and various other types of therapies. Because of this, SNPS have become a valuable part of biomedical research as well as the development of pharmaceuticals and medical diagnostics methods and equipment.


Web Resources On Single Nucleotide Polymorphisms

SNP Fact Sheet
SNP Primer


Book Resources On Single Nucleotide Polymorphisms

Single Nucleotide Polymorphisms: Methods and Protocols by Pui-Yan Kwok
The contribution of a single nucleotide polymorphism to endogenous MMP-1 gene expression, and the contribution of MMP-1 expression to breast cancer cell invasion and tumorigenesis by Colby Alan Wyatt

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