Diagnostic method for KVLQT1—a long QT syndrome gene
US6582913B1 · kind B1 · utility
Assignees
Inventors
Key dates
| Filing date | Jun 19, 2000 |
| Grant date | Jun 24, 2003 |
| Priority date | — |
| Expiry date | Jun 19, 2020 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/172
- 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.