GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

TableEdit

Jump to: navigation, search

PMID:7889574

You don't have sufficient rights on this wiki to edit tables. Perhaps you need to log in. Changes you make in the Table editor will not be saved back to the wiki

See Help for Help on this wiki. See the documentation for how to use the table editor

Citation

Wang, Q, Shen, J, Splawski, I, Atkinson, D, Li, Z, Robinson, JL, Moss, AJ, Towbin, JA and Keating, MT (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805-11

Abstract

Long QT syndrome (LQT) is an inherited disorder that causes sudden death from cardiac arrhythmias, specifically torsade de pointes and ventricular fibrillation. We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24. Here we report genetic linkage between LQT3 and polymorphisms within SCN5A, the cardiac sodium channel gene. Single strand conformation polymorphism and DNA sequence analyses reveal identical intragenic deletions of SCN5A in affected members of two unrelated LQT families. The deleted sequences reside in a region that is important for channel inactivation. These data suggest that mutations in SCN5A cause chromosome 3-linked LQT and indicate a likely cellular mechanism for this disorder.

Links

PubMed

Keywords

Amino Acid Sequence; Base Sequence; Cloning, Molecular; DNA Mutational Analysis; Female; Genetic Linkage; Humans; Long QT Syndrome/genetics; Male; Molecular Sequence Data; Pedigree; Polymorphism, Single-Stranded Conformational; Sequence Deletion/genetics; Sodium Channels/genetics

public



Cancel