Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of Long QT syndrome
نویسندگان
چکیده
منابع مشابه
Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome.
The long QT syndrome (LQTS) is a monogenic disorder characterized by prolongation of the QT interval on electrocardiogram and syncope or sudden death caused by polymorphic ventricular tachycardia (torsades de pointes). In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) have been identified as a cause for LQTS. About 50-60 % of LQTS patients have an identifiab...
متن کاملKCNE1 and KCNE2 variants in Patients with Long QT Syndrome
Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
متن کاملAnalysis of candidate genes for genotypic diagnosis in the long QT syndrome.
Patients with the long QT syndrome (LQTS) suffer from cardiac arrhythmias that can lead to abrupt loss of consciousness and sudden death, already in young individuals. Thus, an early diagnosis of LQTS is essential for patients and their family members. So far, six genes (KCNQ1, HERG, SCN5A, ANK2, KCNE1, KCNE2) have been demonstrated to be involved in the development of LQTS. Since this syndrome...
متن کاملMutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.
Long QT syndrome (LQTS) is a genetic cardiac disease. Gene mutation affects the structure or function of ion channels that are associated with a high risk of sudden death. The goal of this study was to determine the frequency of KCNQ1, KCNH2, and SCN5A mutations in LQTS in a Taiwanese population. Genomic DNA was extracted from peripheral blood samples obtained from 5 patients with LQTS and the ...
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ژورنال
عنوان ژورنال: Physiological Research
سال: 2008
ISSN: 1802-9973,0862-8408
DOI: 10.33549/physiolres.931184