Single-nucleotide polymorphism discovery by targeted DNA photocleavage

Proceedings of the National Academy of Sciences of the United States of America
Jonathan R HartJ K Barton

Abstract

Single-nucleotide polymorphisms are the largest source of genetic variation in humans. We report a method for the discovery of single-nucleotide polymorphisms within genomic DNA. Pooled genomic samples are amplified, denatured, and annealed to generate mismatches at polymorphic DNA sites. Upon photoactivation, these DNA mismatches are then cleaved site-specifically by using a small molecular probe, a bulky metallointercalator, Rhchrysi or Rhphzi. Fluorescent labeling of the cleaved products and separation by capillary electrophoresis permits rapid identification with single-base resolution of the single-nucleotide polymorphism site. This method is remarkably sensitive and minor allele frequencies as low as 5% can be readily detected.

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Citations

Jun 26, 2008·Inorganic Chemistry·Brian M Zeglis, Jacqueline K Barton
Sep 20, 2007·Journal of the American Chemical Society·Christine CordierJacqueline K Barton
Apr 5, 2007·Nature Protocols·Brian M Zeglis, Jacqueline K Barton
Nov 9, 2007·Chemical Communications : Chem Comm·Brian M ZeglisJacqueline K Barton
Oct 13, 2006·Proceedings of the National Academy of Sciences of the United States of America·Jonathan R HartJacqueline K Barton
Dec 30, 2006·Proceedings of the National Academy of Sciences of the United States of America·Valérie C PierreJacqueline K Barton
Apr 2, 2005·Analytical Biochemistry·Jeremiah W Hanes, Kenneth A Johnson
Aug 9, 2005·Biophysical Journal·Chongli YuanLynden A Archer
Feb 1, 2007·Chemical Society Reviews·Michael J Hannon
Mar 19, 2014·Chemical Society Reviews·Anton GranzhanMarie-Paule Teulade-Fichou
May 9, 2007·Nanotechnology·Jason ReedJames K Gimzewski
Dec 31, 2008·Chemistry : a European Journal·Anton Granzhan, Marie-Paule Teulade-Fichou
Feb 11, 2020·Chemical Research in Toxicology·David Paul Elisa DayanidhiVaidyanathan Vaidyanathan Ganesan

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