The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Dec. 06, 2005
Filed:
Feb. 20, 2003
Mark T. Keating, Brookline, MA (US);
Michael C. Sanguinetti, Salt Lake City, UT (US);
Mark E. Curran, Titusville, NJ (US);
Gregory M. Landes, Livermore, CA (US);
Timothy D. Connors, Hopkinton, MA (US);
Timothy C. Burn, Hockessin, DE (US);
Igor Splawski, Allston, MA (US);
Qing Wang, Shaker Heights, OH (US);
Mark T. Keating, Brookline, MA (US);
Michael C. Sanguinetti, Salt Lake City, UT (US);
Mark E. Curran, Titusville, NJ (US);
Gregory M. Landes, Livermore, CA (US);
Timothy D. Connors, Hopkinton, MA (US);
Timothy C. Burn, Hockessin, DE (US);
Igor Splawski, Allston, MA (US);
Qing Wang, Shaker Heights, OH (US);
University of Utah Research Foundation, Salt Lake City, UT (US);
Genzyme Corporation, Framingham, MA (US);
Abstract
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.