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Single-nucleotide polymorphism discovery by targeted DNA photocleavage

Hart, Jonathan R. and Johnson, Martin D. and Barton, Jacqueline K. (2004) Single-nucleotide polymorphism discovery by targeted DNA photocleavage. Proceedings of the National Academy of Sciences of the United States of America, 101 (39). pp. 14040-14044. ISSN 0027-8424.

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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.

Item Type:Article
Additional Information:Copyright © 2004 by the National Academy of Sciences. Contributed by Jacqueline K. Barton, August 20, 2004. This work was supported by National Institutes of Health Grant GM33309.
Subject Keywords:mismatch recognition, base mismatches, human genome, complex, SNPS, rhodium(III), markers, disease, blocks, genes
Record Number:CaltechAUTHORS:HARpnas04
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:974
Deposited By: Tony Diaz
Deposited On:17 Nov 2005
Last Modified:14 Nov 2014 19:18

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