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SNP (Single Nucleotide Polymorphic), SNP mapping, SNP profile, SNP types, SNP analysis by gel electropherosis and by mass spectrometry, SNP effects, single strand conformation polymorphism, SNP advantages and disadvantages and application of SNP profile in drug choice
Single Nucleotide Polymorphism (SNP)
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Synopsis Introduction Some Facts Types of SNPs SNPs act as gene markers Methods of Detection Techniques to detect SNPs Allelic Specific Cleavage Differential Hybridization Single Base Extension or minisequencing Alternate Methods for Detecting SNPs Mass Spectrometry Microchips SIGNIFICANCE OF SNPs HAPLOTYPE ADVANTAGES Are SNP data available to the public? Some important SNP database Resources CONCLUSION References
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Synopsis Introduction Some Facts Types of SNPs SNPs act as gene markers Methods of Detection Techniques to detect SNPs Allelic Specific Cleavage Differential Hybridization Single Base Extension or minisequencing Alternate Methods for Detecting SNPs Mass Spectrometry Microchips SIGNIFICANCE OF SNPs HAPLOTYPE ADVANTAGES Are SNP data available to the public? Some important SNP database Resources CONCLUSION References
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Single Nucleotide Polymorphism (SNP) Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form . A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual). For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population. CHARACTERISTICS OF SNP • In human beings, 99.9 percent bases are same. • Remaining 0.1 percent makes a person unique. • Different attributes / characteristics / traits • How a person looks, diseases he or she develops. These variations can be: Harmless (change in phenotype) Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia ) Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer) TYPES OF SNP NON-CODING REGION A segment of DNA that does comprise a gene and thus does not code for a protein . CODING REGION Regions of DNA/RNA sequences that code for proteins Synonymous A SNP in which both forms lead to the same polypeptide sequence is termed synonymous (sometimes called a silent mutation). Non synonymous If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon. SNP Applications • Gene discovery and mapping • Association-based candidate polymorphism testing • Diagnostics/risk profiling • Response prediction • Homogeneity testing/study design • Gene function identification
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“ SINGLE NUCLEOTIDE
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