Identification of SNPs, or mutations in sequence chromatograms

Abstract

With the completion of the human genome sequencing project in 2001, the identification of novel markers is rapidly gaining importance. It is increasingly recognized that SNPs (single nucleotide polymorphisms) are good markers for disease susceptibility. SNPs are DNA sequence variations that occur when a single nucleotide in the genome sequence is altered in at least 1 % of the population. SNPs may have no effect on cell function, but scientists believe that they could predispose people to disease or influence their response to a drug. This chapter describes the method of using fluorescent based sequencing to detect SNPs and mutations. Sequencing provides information on the type and location of the SNPs with high accuracy. Researchers will need to provide information on the area of the genome they wish to sequence to design primers to PCR amplify the specific region. © 2008 Humana Press.