Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene

Abstract

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCAE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes ARE also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

What is claimed is:  
     
         1 . A method for detecting a mutation which causes or is associated with long QT syndrome in an individual suspected of having long QT syndrome, comprising amplifying the coding sequence of KCNE1 with a first and second primer, wherein the first primer hybridizes to a portion of SEQ ID NO:3 bounded by nucleotides 1 and 174, or its complement, and wherein the second primer hybridizes to a portion of SEQ ID NO:3 bounded by nucleotides 623-1703, or its complement, and analyzing the amplicon for a mutation in the coding sequence of KCNE1 that causes or is associated with long QT syndrome.  
     
     
         2 . The method of  claim 1 , wherein the analyzing step further comprises performing the single-stranded conformation polymorphism technique on the amplified sequence.  
     
     
         3 . The method of  claim 1 , wherein the analyzing step further comprises sequencing the amplified sequence.