DNA Mutation Detection Using Denaturing High‐Performance Liquid Chromatography (DHPLC)
- 1 January 2006
- journal article
- review article
- Published by Wiley in Current Protocols in Human Genetics
- Vol. 48 (1) , 7.10.1-7.10.14
- https://doi.org/10.1002/0471142905.hg0710s48
Abstract
DHPLC is an efficient method for candidate gene scanning with a high level of automation. Single‐base substitutions and insertions or deletions of up to 1.5 kb in PCR amplified DNA fragments can be detected. The method exploits the differential retention of homoduplex and heteroduplex DNA species under conditions of partial thermal denaturation. DHPLC provides a useful platform for high‐throughput mutation detection and SNP discovery. Keywords: denaturing high performance liquid chromatography; mutation detection; DNA heteroduplex; temperature‐modulated fractionation; high‐throughputKeywords
This publication has 23 references indexed in Scilit:
- Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone diseaseJournal of Clinical Pathology, 2005
- DHPLC screening of cystic fibrosis gene mutationsHuman Mutation, 2002
- WWWUbiquity, 2002
- Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1Journal of Medical Genetics, 2001
- Denaturing high-performance liquid chromatography: A reviewHuman Mutation, 2001
- Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation DetectionGenomics, 1998
- BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patientsNature Genetics, 1997
- Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4Cell, 1996
- Rapid and Accurate Sizing of DNA Fragments by Ion-Pair Chromatography on Alkylated Nonporous Poly(styrene-divinylbenzene) ParticlesAnalytical Chemistry, 1995
- High-Resolution Liquid Chromatography of Fluorescent Dye-Labeled Nucleic AcidsAnalytical Biochemistry, 1994