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

• Authors: E. Moric , E. Herbert , U. Mazurek , J. Samelska , K. Cholewa , M. Trusz-Gluza , T. Wilczok
• Languages of publication: EN

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.

Keywords

EN

HEART PATHOLOGY; KVLQT1 GENE; LONG QT SYNDROME; MUTATION; POTASSIUM CHANNEL

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2002
• Volume: 43
• Issue: 2
• Pages: 245-254

Contributors

author

E. Moric

author

E. Herbert

author

U. Mazurek

author

J. Samelska

author

K. Cholewa

author

M. Trusz-Gluza

author

T. Wilczok

• Document Type: ARTICLE
• Publication order reference: E. Moric, Department of Molecular Biology, Biochemistry and Biopharmacy, Medical University of Silesia, ul. Narcyzow 1, 41-200 Sosnowiec, Poland