The genomic structure including the sequence of the intron/exon junctions
is disclosed for KVLQT1 and KCNE1 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.