Identification of SNPs, or Mutations in Sequence Chromatograms

  • Nicole Draper
Part of the Methods in Molecular Biology™ book series (MIMB, volume 439)


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.


Sequencing mutations polymorphisms (SNPs) introns electropherogram 


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Copyright information

© Humana Press, a part of Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Nicole Draper
    • 1
  1. 1.Oxford Gene Technology LtdYarnton, OxfordUK

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