Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis

SCN5A mutations lead to a wide spectrum of cardiovascular disorders. Due to large cohorts to investigate and the large gene size, mutational screening must be performed using an extremely sensitive and specific scanning method. High Resolution Melting (HRM) analysis was developed for SCN5A mutation...

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Bibliographic Details
Published in:Clinical biochemistry 2009-04, Vol.42 (6), p.491-499
Main Authors: Millat, Gilles, Chanavat, Valérie, Rodriguez-Lafrasse, Claire, Rousson, Robert
Format: Article
Language:English
Subjects:
Cardiovascular Diseases - genetics
Cardiovascular disorders
Chromatography, High Pressure Liquid
DHPLC
DNA - analysis
Female
Genetic Testing - economics
Genetic Testing - methods
Genetic Variation
High resolution melting
Humans
Male
Muscle Proteins - analysis
Muscle Proteins - genetics
Mutation
Mutations
NAV1.5 Voltage-Gated Sodium Channel
Nucleic Acid Denaturation
Polymorphism, Genetic
Polymorphisms
SCN5A
Sensitivity and Specificity
Sequence Analysis, DNA
Sodium Channels - analysis
Sodium Channels - genetics
Transition Temperature
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Summary:SCN5A mutations lead to a wide spectrum of cardiovascular disorders. Due to large cohorts to investigate and the large gene size, mutational screening must be performed using an extremely sensitive and specific scanning method. High Resolution Melting (HRM) analysis was developed for SCN5A mutation detection using control DNAs and DNAs carrying previously identified gene variants. A cohort of 40 patients was further screened. To evaluate HRM sensitivity, this cohort was also screened using an optimized DHPLC methodology. All gene variants detected by DHPLC were also readily identified as abnormal by HRM analysis. Mutations were identified for 5 patients. Complete molecular SCN5A investigation was completed two times faster and cheaper than using DHPLC strategy. HRM analysis represents an inexpensive, highly sensitive and high-throughput method to allow identification of SCN5A gene variants. Identification of more SCN5A mutations could provide new insights into the pathophysiology of SCN5A-linked diseases syndromes.
ISSN:0009-9120
1873-2933
DOI:10.1016/j.clinbiochem.2008.10.014