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

Details

Serval ID
serval:BIB_25D8A3EBB846
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.
Journal
Methods in molecular medicine
Author(s)
Postma A.V., Bhuiyan Z.A., Bikker H.
ISSN
1543-1894 (Print)
ISSN-L
1543-1894
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
126
Pages
171-183
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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.

Keywords
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
Create date
01/03/2018 16:36
Last modification date
20/08/2019 14:04
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