For the Focus Section on HRMA Technology
High-Resolution Melting Analysis (HRMA)—More than just sequence variant screening†
Article first published online: 18 MAR 2009
© 2009 Wiley-Liss, Inc.
Special Issue: Focus on High-Resolution Melting Technology
Volume 30, Issue 6, pages 860–866, June 2009
How to Cite
Vossen, R. H.A.M., Aten, E., Roos, A. and den Dunnen, J. T. (2009), High-Resolution Melting Analysis (HRMA)—More than just sequence variant screening. Hum. Mutat., 30: 860–866. doi: 10.1002/humu.21019
- Issue published online: 28 MAY 2009
- Article first published online: 18 MAR 2009
- Accepted manuscript online: 18 MAR 2009 12:00AM EST
- Manuscript Accepted: 2 MAR 2009
- Manuscript Received: 28 NOV 2008
- mutation detection;
- melt curve analysis;
Transition of the double-stranded DNA molecule to its two single strands, DNA denaturation or melting, has been used for many years to study DNA structure and composition. Recent technological advances have improved the potential of this technology, especially to detect variants in the DNA sequence. Sensitivity and specificity were increased significantly by the development of so-called saturating DNA dyes and by improvements in the instrumentation to measure the melting behavior (improved temperature precision combined with increased measurements per time unit and drop in temperature). Melt analysis using these new instruments has been designated high-resolution melting curve analysis (HRM or HRMA). Based on its ease of use, simplicity, flexibility, low cost, nondestructive nature, superb sensitivity, and specificity, HRMA is quickly becoming the tool of choice to screen patients for pathogenic variants. Here we will briefly discuss the latest developments in HRMA and review in particular other applications that have thus far received less attention, including presequence screening, single nucleotide polymorphism (SNP) typing, methylation analysis, quantification (copy number variants and mosaicism), an alternative to gel-electrophoresis and clone characterization. Together, these diverse applications make HRMA a multipurpose technology and a standard tool that should be present in any laboratory studying nucleic acids. Hum Mutat 30:1–7, 2009. © 2009 Wiley-Liss, Inc.