Long QT syndrome genes

Details Long QT syndrome genes Long QT syndrome genes

1995-03-09

1997-02-04

Sisson, Bradley L.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

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, C12Q 168, C12P 1934, C07H 2104, C12N 1500

Patent

active

055996736

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.

REFERENCES:
patent: 4800159 (1989-01-01), Mullis et al.
patent: 5364790 (1994-11-01), Atwood et al.
Sommer and Tautz, "Minimal homology requirements for PCR primers", Nucleic Acids Research, vol. 17, No. 16, 1989, p. 6749.
Keating, "Genetic approaches to cardiovascular disease: Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome", Circulation, vol. 92, No. 1, 1995, pp. 142-147; abstract only.
Q. Wang et al. "SCN5A Mutations Associated with an Inherited Cardiac Arrhythmia, Long QT Syndrome", Cell 80:805-811 (1995).
M. E. Curran et al. "A Molecular Basis for Cardiac Arrhythmia: HERG Mutations Cause Long QT Syndrome", Cell 80:795-803 (1995).
M. Keating. "Linkage Analysis and Long QT Syndrome. Using Genetics to Study Cardiovascular Disease", Circulation 85:1973-1986 (1992).
M. Keating et al. "Consistent Linkage of the Long-QT Syndrome to the Harvey Ras-I Locus on Chromosome 11", Am. J. Hum. Genet. 49:1335-1339 (1991).
C. Jiang et al. "Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity", Nature Genetics 8:141-147 (1994).
J. Marx. "Rare Heart Disease Linked to Oncogene", Science 252:647 (1991).
M. Keating et al. "Linkage of a Cardiac Arrhythmia, the Long QT Syndrome, and the Harvey ras-1 Gene", Science 252:704-706 (1991).
M. Keating. "Evidence of Genetic Heterogeneity in the Long QT Syndrome", Science 260:1960-1962 (1993).
L. J. Ptacek et al. "Identification of a Mutation in the Gene Causing Hyperkalemic Periodic Paralysis", Cell 67:1021-1027 (1991).
A. L. George, Jr. et al. "Assignment of the human heart tetrodotoxin-resistant voltage-gated Na.sup.+ channel .alpha.-subunit gene (SCN5A) to band 3p21", Cytogenet. Cell Genet. 68:67-70 (1995).
M. E. Gellens et al. "Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel", Proc. Natl. Acad. Sci. USA 89:554-558 (1992).
M. Curran et al. "Locus Heterogeneity of Autosomal Dominant Long QT Syndrome", J. Clin. Invest. 92:799-803 (1993).
J. A. Towbin et al. "Evidence of Genetic Heterogeneity in Romano-Ward Long QT Syndrome. Analysis of 23 Families", Circulation 90:2635-2644 (1994).

Affiliated with

Also associated with

Rating

Long QT syndrome genes does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Long QT syndrome genes, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Long QT syndrome genes will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-677476