Single Nucleotide Polymorphism Sample Clauses

Single Nucleotide Polymorphism. A single nucleotide polymorphism (SNP) is a DNA sequence variation involving a single nucleotide (A, T, C or G) alteration. Seventy five percent of SNPs involve the replacement of cytosine (C) with thymine (T). They can happen in the coding and non-coding regions of the genome with variable distribution across the genome. SNPs in the coding region of a gene can produce the same polypeptide sequence (synonymous polymorphism) or a different one (non synonymous). Although in principle, at each position of a sequence stretch, any of the four possible nucleotide bases can be present; SNPs are usually bi-allelic in practice. SNPs have been utilized in the past for the construction of the human genome and for finding the association of these markers with a specific disease (Kruglyak 1999). For the purpose of GWAS an SNP array can be utilized. Such oligonucleotide arrays are very small devices that contain thousands of short DNA sequences (about 25 nucleotides) immobilized at different positions on the surface. These sequences can be used to discriminate between alternative bases at the site of an SNP. The chips allow many SNPs to be analyzed simultaneously, a useful process for large-scale association studies. The method utilized here involves hybridization of the DNA sequence containing the SNP to the chip. Single base extension is followed by fluorescent staining, signal amplification, scanning, and analysis using commercially available software. Data generated is then utilized for amongst other purposes also in the detection of loss of heterozygosity (LOH).
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Related to Single Nucleotide Polymorphism

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