发明名称 |
ALTERATIONS IN THE LONG QT SYNDROME GENES <i>KVLQT1</i> AND <i>SCN5A</i> AND METHODS FOR DETECTING SAME |
摘要 |
<p>Long QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on electrocardiogram and presence of syncope, seizures and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS. These genes are <i>KVLQT1</i>, <i>HERG</i>, <i>SCN5A</i>, <i>KCNE1</i> and <i>KCNE2</i>. Mutations in <i>KVLQT1</i> and <i>KCNE1</i> also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion. Mutational analyses were used to screen 262 unrelated individuals with LQTS for mutations in the five defined genes. A total of 134 mutations were observed of which eighty were novel.</p> |
申请公布号 |
WO0124681(A2) |
申请公布日期 |
2001.04.12 |
申请号 |
WO2000US21660 |
申请日期 |
2000.08.09 |
申请人 |
UNIVERSITY OF UTAH RESEARCH FOUNDATION |
发明人 |
KEATING, MARK, T.;SPLAWSKI, IGOR |
分类号 |
G01N33/483;A61P9/02;C07C209/84;C07C211/42;C07K14/47;C07K16/18;C12N15/09;C12P21/08;C12Q1/42;C12Q1/68;G01N33/15;G01N33/50;G01N33/53;G01N33/566;(IPC1-7):A61B/ |
主分类号 |
G01N33/483 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|