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Published September 28, 2004 | Published + Supplemental Material
Journal Article Open

Single-nucleotide polymorphism discovery by targeted DNA photocleavage


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.

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.

Attached Files

Published - HARpnas04.pdf

Supplemental Material - 06169Fig6.pdf

Supplemental Material - 06169Fig7.pdf


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