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  • Title: Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
    Author: Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R.
    Journal: Clin Biochem; 2009 Jun; 42(9):892-8. PubMed ID: 19318026.
    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.
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