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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. PMCID PMC521117. http://resolver.caltech.edu/CaltechAUTHORS:HARpnas04

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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.


Item Type:Article
Related URLs:
URLURL TypeDescription
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC521117/PubMed CentralArticle
ORCID:
AuthorORCID
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.
Funders:
Funding AgencyGrant Number
NIHGM33309
Subject Keywords:mismatch recognition, base mismatches, human genome, complex, SNPS, rhodium(III), markers, disease, blocks, genes
PubMed Central ID:PMC521117
Record Number:CaltechAUTHORS:HARpnas04
Persistent URL:http://resolver.caltech.edu/CaltechAUTHORS:HARpnas04
Alternative URL:http://dx.doi.org/10.1073/pnas.0406169101
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
Collection:CaltechAUTHORS
Deposited By: Tony Diaz
Deposited On:17 Nov 2005
Last Modified:26 Jan 2016 02:34

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