1.
Biotechniques
; 22(6): 1088-90, 1997 Jun.
Article
in English
| MEDLINE
| ID: mdl-9187758
Subject(s)
Nucleic Acid Hybridization/methods , Quaternary Ammonium Compounds , Sequence Analysis, DNA/methods , Artifacts , Base Composition , DNA Primers , DNA Probes , Humans , Molecular Sequence Data , Nucleic Acid Denaturation , Polymerase Chain Reaction , Proteins/genetics , TRPP Cation Channels , Temperature
2.
Nat Genet
; 12(1): 17-23, 1996 Jan.
Article
in English
| MEDLINE
| ID: mdl-8528244
ABSTRACT
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death.