Mutational Screening of SCN5A in Patients Suspected of LQTS
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| Year of publication | 2009 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Purpose: Long QT syndrome (LQTS), an inherited cardiac arrhythmia, is a disorder of ventricular repolarisation characterised by electrocardiographic abnormalities and the onset of torsades de pointes leading to syncope and sudden death. Genetic polymorphisms in cardiac ion channel genes have been identified to be responsible for the disorder. The aim of this study was to screen disease-causing mutations and associated polymorphisms in the SCN5A gene. We collected 37 LQTS suspected patients who had no mutations in main LQTS genes and 37 age and sex matching healthy controls. Methods: The coding region of the SCN5A gene was systematically screened for mutations using PCR, SSCP and sequencing analysis. Results: The mutational analysis of the SCN5A revealed 3 synonymous (G87A, G3183A, D1819D), 1 non-synonymous (H558R) and 3 intronic polymorphisms (IVS24+53TC, IVS25+65GA, IVS9-3CA). The IVS25+65GA variant was detected only in the control group and was described in czech population for the first time. Conclusions: The IVS9-3CA polymorphism is probably associated with acceptor splice site mutation. We disclosed coexistence between polymorphisms IVS9-3C A and A1673G (H558R) in our patiens and controls. |
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