Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
US7247436B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Aug 5, 2004 |
| Grant date | Jul 24, 2007 |
| Priority date | — |
| Expiry date | May 31, 2025 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY10T436/143333
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.