A Caltech Library Service

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. PMCID PMC521117.

PDF - Published Version
See Usage Policy.

[img] PDF (Supporting Figure 6) - Supplemental Material
See Usage Policy.

[img] PDF (Supporting Figure 7) - Supplemental Material
See Usage Policy.


Use this Persistent URL to link to this item:


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
Related URLs:
URLURL TypeDescription CentralArticle
Johnson, Martin D.0000-0002-4120-3029
Barton, Jacqueline K.0000-0001-9883-1600
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.
Funding AgencyGrant Number
Subject Keywords:mismatch recognition, base mismatches, human genome, complex, SNPS, rhodium(III), markers, disease, blocks, genes
Issue or Number:39
PubMed Central ID:PMC521117
Record Number:CaltechAUTHORS:HARpnas04
Persistent URL:
Official Citation:Jonathan R. Hart, Martin D. Johnson, and Jacqueline K. Barton Single-nucleotide polymorphism discovery by targeted DNA photocleavage PNAS 2004 101 (39) 14040-14044; published ahead of print September 21, 2004, doi:10.1073/pnas.0406169101
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:09 Mar 2020 13:18

Repository Staff Only: item control page