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    Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
    1.
    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minK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：US07247436B2

    公开(公告)日：2007-07-24

    申请号：US10911678

    申请日：2004-08-05

    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： C12Q1/68 ,  C12P19/34 ,  C07H21/02 ,  C07H21/04 ,  G01N33/53

    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。

    Diagnostic method for KVLQT1—a long QT syndrome gene
    2.
    发明授权
    Diagnostic method for KVLQT1—a long QT syndrome gene 有权
    KVLQT1-长QT综合征基因的诊断方法

    公开(公告)号：US06582913B1

    公开(公告)日：2003-06-24

    申请号：US09597731

    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
    3.
    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：US06323026B1

    公开(公告)日：2001-11-27

    申请号：US09444871

    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： C12N1512

    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。

    KVLQT1—a long QT syndrome gene
    4.
    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：US06277978B1

    公开(公告)日：2001-08-21

    申请号：US09135010

    申请日：1998-08-17

    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： C07K14705

    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。 还公开了两个基因的附加序列数据。 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。

    KVLQT1—a long QT syndrome gene
    5.
    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
    6.
    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。

    Mutations in the KCNE1 gene encoding human minK which cause arrhythmia susceptibility thereby establishing KCNE1 as an LQT gene
    7.
    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minK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：US06274332B1

    公开(公告)日：2001-08-14

    申请号：US09135020

    申请日：1998-08-17

    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： G01N3353

    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。

    KVLQT1—a long qt syndrome gene
    9.
    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：US06420124B1

    公开(公告)日：2002-07-16

    申请号：US09597735

    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： G01N3353

    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。

    Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
    10.
    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。