Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.

Détails

ID Serval
serval:BIB_25D8A3EBB846
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.
Périodique
Methods in molecular medicine
Auteur⸱e⸱s
Postma A.V., Bhuiyan Z.A., Bikker H.
ISSN
1543-1894 (Print)
ISSN-L
1543-1894
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
126
Pages
171-183
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disease characterized by adrenergic-induced arrhythmias in the form of bidirectional and PVT. CPVT is a distinct clinical entity associated with a high mortality rate of up to 50% by the age of 30 yr. Recently, the molecular diagnostics of this disease have become increasingly important because underlying mutations can be found in more than 60% of the identified CPVT patients. Along with the fact that treatment with beta-blockers has a favorable outcome in CPVT patients, and given the risk of sudden death, the identification of causative mutations in CPVT is important because it can greatly augment early diagnosis and subsequent preventive strategies. In this chapter, we describe the molecular diagnostics, as performed in our lab, of the three genes known to be involved in CPVT, the cardiac ryanodine receptor gene, the cardiac calsequestrin gene, and the inwardly rectifying potassium channel KCNJ2.

Mots-clé
Base Sequence, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Exons/genetics, Humans, Molecular Diagnostic Techniques/methods, Molecular Sequence Data, Nucleic Acid Denaturation, Polymorphism, Genetic, Tachycardia, Ventricular/diagnosis, Tachycardia, Ventricular/genetics
Pubmed
Création de la notice
01/03/2018 15:36
Dernière modification de la notice
27/09/2021 10:16
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