C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C07K 5/00 (2006.01) C07K 14/705 (2006.01) C12N 15/00 (2006.01) C12P 19/34 (2006.01)
Patent
CA 2336236
The invention relates to the determination of the genomic structure of HERG which is a gene associated with long QT syndrome. The sequences of the 15 intron/exon junctions has been determined and this information is useful in devising primers for amplifying and sequencing across all of the exons of the gene. This is useful for determining the presence or absence of mutations which are known to cause long QT syndrome. Also disclosed are many new mutations in HERG which have been found to be associated with long QT syndrome.
L'invention concerne la détermination de la structure génomique de HERG, gène associé au syndrome de QT long. On a déterminé les séquences des jonctions des 15 introns/exons et cette information est utile pour élaborer des amorces servant à l'amplification et au séquençage de la totalité des exons du gène. Ceci permet de déterminer la présence ou l'absence de mutations connues pour provoquer un syndrome de QT long. Elle concerne également de nombreuses nouvelles mutations de HERG dont on a découvert l'association avec le syndrome de QT long.
Keating Mark T.
Splawski Igor
Gowling Lafleur Henderson Llp
University Of Utah Research Foundation
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