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    Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
    3.
    发明授权
    Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome 有权
    KVLQT1中的纯合突变导致Jervell和Lange Nielsen综合征

    公开(公告)号：US6150104A

    公开(公告)日：2000-11-21

    申请号：US135021

    申请日：1998-08-17

    申请人： Igor Splawski ,  Mark T. Keating

    发明人： Igor Splawski ,  Mark T. Keating

    IPC分类号： C07K14/705 ,  C12Q1/68 ,  C07H21/04 ,  C12N1/20 ,  C12P19/34

    CPC分类号： C07K14/705 ,  C12Q1/6883 ,  A01K2217/05 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death and short life expectancy. A homozygous mutation in KVLQT1, the potassium channel gene responsible for chromosome 11-linked long QT syndrome, is shown to be a cause of JLN.

    摘要翻译： Jervell和Lange-Nielsen综合征（JLN）是长QT综合征的常染色体隐性形式。 除QT间期延长外，这种疾病与先天性耳聋有关。 JLN是罕见的，但受影响的个体易患心律失常，猝死率高，预期寿命短。 KVLQT1（负责染色体11连锁长QT综合征的钾通道基因）的纯合突变显示为JLN的病因。

    Alterations in the long QT syndrome genes KVLQT1 and SCN5A and methods for detecting same
    6.
    发明申请
    Alterations in the long QT syndrome genes KVLQT1 and SCN5A and methods for detecting same 审中-公开
    长QT综合征基因KVLQT1和SCN5A的变化及其检测方法

    公开(公告)号：US20050003445A1

    公开(公告)日：2005-01-06

    申请号：US10914133

    申请日：2004-08-10

    申请人： Igor Splawski ,  Mark Keating

    发明人： Igor Splawski ,  Mark Keating

    IPC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 ,  C07H21/04

    CPC分类号： C12Q1/6883 ,  C07C209/84 ,  C07C211/42 ,  C07C2602/10 ,  C12Q2565/131 ,  C12Q2600/156

    摘要： 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 KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Mutations in KVLQT1 and KCNE1 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.

    摘要翻译： 长QT综合征（LQTS）是一种心血管疾病，其特征在于心电图延迟QT间期，晕厥，癫痫发作和猝死。 罗马诺病综合征中有5个基因涉及LQTS的常染色体显性遗传。 这些基因是KVLQT1，HERG，SCN5A，KCNE1和KCNE2。 KVLQT1和KCNE1中的突变也导致Jervell和Lange-Nielsen综合征，这是一种与耳聋相关的LQTS，一种以常染色体隐性遗传的表型异常。 突变分析用于筛选262个与LQTS不相关的个​​体在五个定义的基因中的突变。 观察到共有134个突变，其中80个是新的。

    Alterations in the long QT syndrome genes KVLQT1 and SCN5A and methods for detecting same
    7.
    发明授权
    Alterations in the long QT syndrome genes KVLQT1 and SCN5A and methods for detecting same 有权
    长QT综合征基因KVLQT1和SCN5A的变化及其检测方法

    公开(公告)号：US06787309B2

    公开(公告)日：2004-09-07

    申请号：US09840125

    申请日：2001-04-24

    申请人： Igor Splawski ,  Mark T. Keating

    发明人： Igor Splawski ,  Mark T. Keating

    IPC分类号： C12Q168

    CPC分类号： C12Q1/6883 ,  C07C209/84 ,  C07C211/42 ,  C07C2602/10 ,  C12Q2565/131 ,  C12Q2600/156

    摘要： 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 KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Mutations in KVLQt1 and KCNE1 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 analyzes 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.

    摘要翻译： 长QT综合征（LQTS）是一种心血管疾病，其特征在于心电图延迟QT间期，晕厥，癫痫发作和猝死。 罗马诺病综合征中有5个基因涉及LQTS的常染色体显性遗传。 这些基因是KVLQT1，HERG，SCN5A，KCNE1和KCNE2。 KVLQt1和KCNE1中的突变也导致Jervell和Lange-Nielsen综合征，这是一种与耳聋相关的LQTS的一种形式，是以常染色体隐性方式遗传的表型异常。 突变分析用于筛选262个与LQTS不相关的个​​体在五个定义的基因中的突变。 观察到共有134个突变，其中80个是新的。

    KVLQT1—a long QT syndrome gene
    8.
    发明授权
    KVLQT1—a long QT syndrome gene 有权
    KVLQT1 - 长QT综合征基因

    公开(公告)号：US06451534B1

    公开(公告)日：2002-09-17

    申请号：US09597732

    申请日：2000-06-19

    申请人： Mark T. Keating ,  Michael C. Sanguinetti ,  Mark E. Curran ,  Gregory M. Landes ,  Timothy D. Connors ,  Timothy C. Burn ,  Igor Splawski

    发明人： Mark T. Keating ,  Michael C. Sanguinetti ,  Mark E. Curran ,  Gregory M. Landes ,  Timothy D. Connors ,  Timothy C. Burn ,  Igor Splawski

    IPC分类号： C12Q168

    CPC分类号： C07K14/47 ,  A01K2217/05 ,  A61K48/00 ,  C07K14/705 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

    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.

    摘要翻译： 公开了与长QT综合征相关的基因的KVLQT1和KCNE1的内含子/外显子连接序列的基因组结构。 另外公开了两种基因ARE的附加序列数据。 还公开了KVLQT1中新发现的突变，导致长QT综合征。 内含子/外显子连接序列数据允许设计引物对来扩增和序列两个基因的所有外显子。 这可以用于筛选引起长QT综合征的突变的存在。 可以进行检测以筛选人们在DNA或蛋白质中存在突变。 DNA和蛋白质也可用于筛选可用于治疗或预防长QT综合征发生的药物的测定中。

    Mutations in the KCNE1 gene encoding human mink which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
    9.
    发明授权
    Mutations in the KCNE1 gene encoding human mink which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene 有权
    编码人貂的KCNE1基因突变导致心律失常易感性，从而建立KCNE1作为LQT基因

    公开(公告)号：US06432644B1

    公开(公告)日：2002-08-13

    申请号：US09444295

    申请日：1999-11-22

    申请人： Mark T. Keating ,  Michael C. Sanguinetti ,  Igor Splawski

    发明人： Mark T. Keating ,  Michael C. Sanguinetti ,  Igor Splawski

    IPC分类号： C12Q168

    CPC分类号： C07K14/47 ,  A01K2217/05 ,  A61K48/00 ,  C07K14/705 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172 ,  Y10T436/143333

    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.

    摘要翻译： 公开了与长QT综合征相关的基因的KVLQT1和KCNE1的内含子/外显子连接序列的基因组结构。 另外公开了两种基因ARE的附加序列数据。 还公开了KVLQT1中新发现的突变，导致长QT综合征。 内含子/外显子连接序列数据允许设计引物对来扩增和序列两个基因的所有外显子。 这可以用于筛选引起长QT综合征的突变的存在。 可以进行检测以筛选人们在DNA或蛋白质中存在突变。 DNA和蛋白质也可用于筛选可用于治疗或预防长QT综合征发生的药物的测定中。