Elsevier

Genomics

Volume 34, Issue 1, 15 May 1996, Pages 9-16
Genomics

Regular Article
Genomic Organization of the HumanSCN5AGene Encoding the Cardiac Sodium Channel

https://doi.org/10.1006/geno.1996.0236Get rights and content

Abstract

The voltage-gated cardiac sodium channel, SCN5A, is responsible for the initial upstroke of the action potential. Mutations in the humanSCN5Agene cause susceptibility to cardiac arrhythmias and sudden death in the long QT syndrome (LQT). In this report we characterize the genomic structure ofSCN5A. SCN5Aconsists of 28 exons spanning approximately 80 kb on chromosome 3p21. We describe the sequences of all intron/exon boundaries and a dinucleotide repeat polymorphism in intron 16. Oligonucleotide primers based on exon-flanking sequences amplify allSCN5Aexons by PCR. This work establishes the complete genomic organization ofSCN5Aand will enable high-resolution analyses of this locus for mutations associated with LQT and other phenotypes for whichSCN5Amay be a candidate gene.

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