US 6,582,913 B1 · Diagnostic method for KVLQT1—a long QT syndrome gene

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.

Claims16

Dependent claims

A method for diagnosing the present of a polymorphism in human KVLQT1 which cause long QT syndrome wherein said method is performed by means which identify the presence of said polymorphism, wherein said polymorphism is one which results in the presence of KVLQT1 polypeptide of SEQ ID NO:2 with an alter amino acid, selected from the group consisting of:

an Arg at residue 168, a Ser at residue 314, a Cys at residue 315, an Asn at residue 318, a Pro at residue 353, Trp at residue 366, a Trp at position 167 concurrent with a deletion of amino acid residue 168, a Pro at position 178, an Arg at position 189, a Gln at position 190, a Met at position 254, a Phe at position 273, an Arg at position 306, an Ile at position 312, a Glu at position 341, and a Glu at position 345.

Dependencies are inferred from the claim text.

Facts

Application

09/597,731Filed 19 Jun 2000 · division

Priority

22 Dec 1995

Granted

24 Jun 2003

Term ends

Not estimatedThe source records don’t support an estimate.

Classification14 codes

C07K 14/47
From vertebrates: from mammals
A61P 9/06
Drugs for disorders of the cardiovascular system: antiarrhythmics
C07K 14/705
From animals; from humans: receptors; Cell surface antigens; Cell surface determinants
C12Q 1/6883
Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes: for diseases caused by alterations of genetic material

Family

Application60/019,014Us provisional application · filed 22 Dec 1995

Application08/739,383Parent of this continuation-in-part · filed 29 Oct 1996

Application08/921,068Parent of this continuation-in-part · filed 29 Aug 1997

Application60/094,477Us provisional application · filed 29 Jul 1998

Application09/135,010Parent of this division · filed 17 Aug 1998

US 6,277,978 B1Parent of this division

Application09/135,010Parent of this continuation-in-part

US 6,582,913 B1This patent

From the US filing history. Foreign family members aren’t listed.

Diagnostic method for KVLQT1—a long QT syndrome gene

Life of this patent

Diagnostic method for KVLQT1—a long QT syndrome gene

Life of this patent

Abstract

Claims16