发明授权
- 专利标题： KVLQT1—a long qt syndrome gene
- 专利标题（中）： KVLQT1-长qt综合征基因
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申请号： US09597735申请日： 2000-06-19
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公开(公告)号： US06420124B1公开(公告)日： 2002-07-16
- 发明人: Mark T. Keating , Michael C. Sanguinetti , Mark E. Curran , Gregory M. Landes , Timothy D. Connors , Timothy C. Burn , Igor Splawski
- 申请人： Mark T. Keating , Michael C. Sanguinetti , Mark E. Curran , Gregory M. Landes , Timothy D. Connors , Timothy C. Burn , Igor Splawski
- 主分类号： G01N3353
- IPC分类号： G01N3353
摘要：
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.