title: The KVLQT1 gene is not a common target for mutations in patients with various heart pathologies.
abstract: The long QT syndrome (LQTS) is a disorder of ventricular repolarization that exposes affected individuals to cardiac arrhythmias and sudden death. The first gene for LQTS has been mapped to chromosome 11 p.15.5 by genome-wide linkage analysis. This gene, originally named KVLQT1 (and later KCNQ1), is a novel potassium channel gene. Mutations in the human KVLQT1 gene, encoding the alpha-subunit of the KVLQT1 channel, cause the long QT syndrome. In this work, we analysed the sequence of six KVLQT1 exons in patients with various heart pathologies. We describe 6 different mSSCP patterns with no disease-related SSCP conformers in any sample. Direct sequencing of exons 2 to 7 confirmed the absence of mutations. This suggests that the analysed region of the KVLQT1 gene is not commonly involved in pathogenesis of the long QT syndrome.
authors.affiliation: Department of Molecular Biology, Biochemistry and Biopharmacy, Silesian Medical Academy, Sosnowiec, Poland. umach@slam.katowice.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Moric
authors.forename: Ernest
authors.initials: E
authors.lastname: Herbert
authors.forename: Urszula
authors.initials: U
authors.lastname: Mazurek
authors.forename: Justyna
authors.initials: J
authors.lastname: Samelska
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Cholewa
authors.forename: Maria
authors.initials: M
authors.lastname: Trusz-Gluza
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Wilczok
mesh_terms: D006331:Heart Diseases / Q000235:genetics*; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D017422:Sequence Analysis, DNA
chemical_list: D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated