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.

Date of Patent:
Feb. 04, 1997

Filed:

Mar. 09, 1995
Applicant:
Inventors:

Mark T Keating, Salt Lake City, UT (US);

Mark E Curran, Salt Lake City, UT (US);

Qing Wang, Salt Lake City, UT (US);

Assignee:

University of Utah Research Foundation, Salt Lake City, UT (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q / ; C12P / ; C07H / ; C12N / ;
U.S. Cl.
CPC ...
435-6 ; 435 911 ; 435 912 ; 436 94 ; 536 231 ; 536 235 ; 536 243 ; 536 2431 ; 536 2433 ; 536 253 ; 536 2532 ; 935-3 ; 935-5 ; 935 77 ; 935 78 ;
Abstract

The invention relates to the identification of the molecular basis of long QT syndrome. More specifically, the invention has identified that SCN5A and HERG cause long QT syndrome. Molecular variants of the SCN5A and HERG genes contribute to the syndrome. The analysis of these genes will provide an early diagnosis of subjects with long QT syndrome. The diagnostic methods comprise analyzing the nucleic acid sequences of the SCN5A or HERG genes of an individual to be tested and comparing them with the nucleic acid sequence of the native, nonvariant genes. Alternatively, the amino acid sequences of SCN5A or HERG may be analyzed for mutations which cause long QT syndrome. Presymptomatic diagnosis of long QT syndrome will enable practitioners to treat this disorder using existing medical therapy.


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