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2002 | 43 | 2 | 245-254
Article title

The KVLQT1 gene is not a common target for mutations in patients with various heart pathologies

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Abstracts
EN
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 a-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.
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Year
Volume
43
Issue
2
Pages
245-254
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ARTICLE
Publication order reference
E. Moric, Department of Molecular Biology, Biochemistry and Biopharmacy, Medical University of Silesia, ul. Narcyzow 1, 41-200 Sosnowiec, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-daafa897-a5e5-3f7d-b74d-c235c4661f97
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