Quick Search:

uzh logo
Browse by:

Zurich Open Repository and Archive

Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-597

Nairz, K; Stocker, H; Schindelholz, B; Hafen, E (2002). High-resolution SNP mapping by denaturing HPLC. Proceedings of the National Academy of Sciences of the United States of America (PNAS), 99(16):10575-10580.

View at publisher


With the availability of complete genome sequences, new rapid and reliable strategies for positional cloning become possible. Single-nucleotide polymorphisms (SNPs) permit the mapping of mutations at a resolution not amenable to classical genetics. Here we describe a SNP mapping procedure that relies on resolving polymorphisms by denaturing HPLC without the necessity of determining the nature of the SNPs. With the example of mapping mutations to the Drosophila nicastrin locus, we discuss the benefits of this method, evaluate the frequency of closely linked and potentially misleading second site mutations, and demonstrate the use of denaturing high-performance liquid chromatography to identify mutations in the candidate genes and to fine-map chromosomal breakpoints. Furthermore, we show that recombination events are not uniformly dispersed over the investigated region but rather occur at hot spots.


17 citations in Web of Science®
22 citations in Scopus®
Google Scholar™



84 downloads since deposited on 11 Feb 2008
19 downloads since 12 months

Detailed statistics

Additional indexing

Item Type:Journal Article, refereed
Communities & Collections:07 Faculty of Science > Institute of Zoology (former)
Dewey Decimal Classification:570 Life sciences; biology
590 Animals (Zoology)
Date:6 August 2002
Deposited On:11 Feb 2008 12:16
Last Modified:05 Apr 2016 12:14
Publisher:National Academy of Sciences
Publisher DOI:10.1073/pnas.162136299
PubMed ID:12149455

Users (please log in): suggest update or correction for this item

Repository Staff Only: item control page