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

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

    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。

    POLYMORPHISMS ASSOCIATED WITH ION-CHANNEL DISEASE
    10.
    发明公开
    POLYMORPHISMS ASSOCIATED WITH ION-CHANNEL DISEASE 审中-公开
    离子通道病相关的多态性

    公开(公告)号:EP1425415A2

    公开(公告)日:2004-06-09

    申请号:EP02757301.3

    申请日:2002-08-20

    IPC分类号: C12Q1/68 C07H21/04

    CPC分类号: C12Q1/6883 C12Q2600/156

    摘要: The present invention provides methods and materials to identify genetic abnormalities that predispose an individual to ion-channel diseases. The invention provides four polymorphic sites in the KCNQ1 gene that cause reduced conductance of the associated potassium ion channel current and a variant form of the KCNE1 gene which causes decreased conductance though the channel. The variant form of KCNE1 also acts synergistically with variants of KCNQ1 to cause further decreased conductance than either variant alone. The invention further provides polymorphisms in ion channel genes showing a higher frequency in populations afflicted with ion channel diseases or within control groups. The detection of these polymorphic sites that produce the potassium ion channel protein variants in either heterozygous or homozygous form in a subject indicates that the subject has, or is susceptible to, ion channel diseases such as congenital or acquired cardiac arrhythmia, LQT syndrome, SIDS, epilepsy, or hearing loss.