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.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Moric E,Herbert E,Mazurek U,Samelska J,Cholewa K,Trusz-Gluza M,Wilczok Tsubject
Has Abstractpub_date
2002-01-01 00:00:00pages
245-54issue
2eissn
1234-1983issn
2190-3883pii
98journal_volume
43pub_type
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