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    Mutations in and genomic structure of HERG - a long QT syndrome gene
    2.
    发明公开
    Mutations in and genomic structure of HERG - a long QT syndrome gene 审中-公开
    Mutationen und genomische Struktur des Herg-Gens - ein Gen des Long-QT-Syndroms

    公开(公告)号：EP1553190A2

    公开(公告)日：2005-07-13

    申请号：EP04008958.3

    申请日：1999-07-20

    申请人： The University of Utah Research Foundation

    发明人： Keating, Mark T. ,  Splawski, Igor

    IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/04

    CPC分类号： C12Q1/6883 ,  A01K2217/05 ,  C07K14/705 ,  C12Q2600/156

    摘要： The invention relates to the determination of the genomic structure of HERG which is a gene associated with long QT syndrome. The sequences of the 15 intron/exon junctions have been determined and this information is useful in devising primers for amplifying and sequencing across all of the exons of the gene. This is useful for determining the presence or absence of mutations which are known to cause long QT syndrome. Also disclosed are many new mutations in HERG which have been found to be associated with long QT syndrome.

    摘要翻译： 本发明涉及作为与长QT综合征相关的基因的HERG的基因组结构的确定。 已经确定了15个内含子/外显子连接的序列，并且该信息可用于设计用于在基因的所有外显子上扩增和测序的引物。 这可用于确定已知引起长QT综合征的突变的存在或不存在。 还公开了已经发现与长QT综合征相关的HERG中的许多新突变。