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Nucleic Acids Research 2005 33(10):e89; doi:10.1093/nar/gni090
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Published online 3 June 2005

© The Author 2005. Published by Oxford University Press. All rights reserved
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions{at}oupjournals.org

Methods Online

Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example

Genevieve Pont-Kingdon1,* and Elaine Lyon1,2

1Institute for Clinical and Experimental Pathology, ARUP Laboratories 500 Chipeta Way, Salt Lake City, UT 84108, USA 2Department of Pathology, University of Utah Salt Lake City, UT 84132, USA

*To whom correspondence should be addressed. Tel: +1 801 583 2787, ext. 2546; Fax: +1 801 584 5109; Email: pontkig{at}aruplab.com

Received February 1, 2005. Revised April 22, 2005. Accepted May 17, 2005.

Direct determination of the association of multiple genetic polymorphisms, or haplotyping, in individual samples is challenging because of chromosome diploidy. Here, we describe the ability of hybridization probes, commonly used as genotyping tools, to establish single nucleotide polymorphism (SNP) haplotypes in a single step. Three haplotypes found in the beta 2-adrenergic receptor (ß2AR) gene and characterized by three different SNPs combinations are presented as examples. Each combination of SNPs has a unique stability, recorded by its melting temperature, even when intervening sequences from the template must loop out during probe hybridization. In the course of this study, two haplotypes in ß2AR not described previously were discovered. This approach provides a tool for molecular haplotyping that should prove useful in clinical molecular genetics diagnostics and pharmacogenetic research where methods for direct haplotyping are needed.


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