title: Mutation screening for the genes causing cardiac arrhythmias.
abstract: In this chapter, the up-to-date understanding of the molecular basis of disorders causing arrhythmias are outlined. Several arrhythmic disorders have been well described at the molecular level, including the long QT syndromes (LQTS), Brugada syndrome, and polymorphic ventricular tachycardia. The genes identified have been determined using genetic linkage analysis, cloning, and mutation analyses. In the past, cloning was common, but with completion of the Human Genome Project, cloning is now rarely needed. In this chapter, current mutation screening methods, including denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing are described, and the current knowledge gained using these studies is discussed.
authors.affiliation: Pediatric Cardiology, Texas Children's Hospital, Houston, TX, USA.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Towbin
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D006801:Humans; D009691:Nucleic Acid Denaturation