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Clin Biochem. 2009 Jun;42(9):892-8. doi: 10.1016/j.clinbiochem.2009.01.016. Epub 2009 Feb 6.

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Author information

1
Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France. gilles.millat@chu-lyon.fr

Abstract

OBJECTIVES:

LMNA mutations lead to a wide spectrum of disorders now called laminopathies. Due to large cohorts to investigate, mutational screening must be performed using an extremely sensitive and specific scanning method.

DESIGN AND METHODS:

High Resolution Melting (HRM) analysis was developed for LMNA mutation detection. A cohort of 64 patients with dilated cardiomyopathy was prospectively screened using both HRM and DHPLC methodologies.

RESULTS:

All gene variants detected by DHPLC or by direct sequencing were also readily identified as abnormal by HRM analysis. Mutations were identified in 7 patients (approximately 11%). Complete molecular LMNA investigation was completed two times faster and cheaper than using DHPLC strategy.

CONCLUSIONS:

HRM analysis represents an inexpensive, highly sensitive and high-throughput method to identify LMNA genetic variants. The discovery of novel LMNA mutations will provide new insights into the pathophysiology of dilated cardiomyopathy and in all other laminopathies.

[Indexed for MEDLINE]

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