Methods and kits for linking polymorphic sequences to expanded repeat mutations
    1.
    发明授权
    Methods and kits for linking polymorphic sequences to expanded repeat mutations 有权
    将多态性序列与扩增的重复突变连接的方法和试剂盒

    公开(公告)号:US09273356B2

    公开(公告)日:2016-03-01

    申请号:US11752789

    申请日:2007-05-23

    IPC分类号: C12Q1/68 C07H21/04 C12N15/113

    摘要: Methods and kits are provided for determining which single nucleotide polymorphism (“SNP”) variant of an allele of a heterozygous patient is on the same allele as a disease-causing mutation that is at a remote region of the gene's mRNA comprising a) an allele specific reverse transcription reaction using an allele specific primer which recognizes one SNP variant, wherein further the 3′ end of the primer is positioned at the SNP nucleotide position, and b) analysis of the resulting cDNA product from the reverse transcription reaction at the region of the mutation to determine the presence or absence of the mutation on this allele specific cDNA product, wherein the allele specific primer is shorter than about 20 nucleotides.

    摘要翻译: 提供了方法和试剂盒,用于确定杂合子患者的等位基因的哪个单核苷酸多态性(“SNP”)变体与位于该基因mRNA的偏远区域的相同等位基因位于同一等位基因上,其包含a)等位基因 特异性逆转录反应,其使用识别一个SNP变体的等位基因特异性引物,其中进一步引物的3'末端位于SNP核苷酸位置,以及b)在逆转录反应的区域分析得到的cDNA产物 确定该等位基因特异性cDNA产物上存​​在或不存在突变的突变,其中等位基因特异性引物短于约20个核苷酸。

    Methods and kits for linking polymorphic sequences to expanded repeat mutations
    3.
    发明申请
    Methods and kits for linking polymorphic sequences to expanded repeat mutations 审中-公开
    将多态性序列与扩增的重复突变连接的方法和试剂盒

    公开(公告)号:US20080280843A1

    公开(公告)日:2008-11-13

    申请号:US11439858

    申请日:2006-05-24

    IPC分类号: A61K31/7105 C12Q1/68

    摘要: Methods and kits are provided for determining which single nucleotide polymorphism (“SNP”) variant of an allele of a heterozygous patient is on the same mRNA transcript as a disease-causing mutation that is at a remote region of the gene's mRNA comprising a) an allele-specific reverse transcription reaction using an allele-specific primer, and b) analysis of the resulting cDNA product from the reverse transcription reaction at the region of the mutation to determine the presence or absence of the mutation on this allele-specific cDNA product.

    摘要翻译: 提供了方法和试剂盒,用于确定杂合患者的等位基因的单个核苷酸多态性(“SNP”)变体与位于基因mRNA的偏远区域的同一mRNA转录物在同一mRNA转录物上,其包含a) 使用等位基因特异性引物的等位基因特异性逆转录反应,以及b)在突变区域从逆转录反应分析得到的cDNA产物,以确定该等位基因特异性cDNA产物上是否存在突变。

    Suppression of SCN9A gene expression and/or function for the treatment of pain
    7.
    发明授权
    Suppression of SCN9A gene expression and/or function for the treatment of pain 有权
    抑制SCN9A基因表达和/或功能治疗疼痛

    公开(公告)号:US08183221B2

    公开(公告)日:2012-05-22

    申请号:US12676596

    申请日:2008-09-05

    IPC分类号: A61K48/00 C07H21/04 C12N15/63

    CPC分类号: C12N15/1138 C12N2310/14

    摘要: Disclosed herein are methods, sequences and nucleic acid molecules used to treat pain. Specifically, the methods and sequences include locally administering molecules that suppress the expression of amino acid sequences that encode for Nav1.7 channels or that otherwise inhibit the function of Nav1.7 channels. Local suppression of Nav1.7 channel levels and/or function will occur in the peripheral sensory neurons of the dorsal root ganglia.

    摘要翻译: 本文公开了用于治疗疼痛的方法,序列和核酸分子。 具体地,所述方法和序列包括局部施用抑制编码Nav1.7通道的氨基酸序列的表达或者否则抑制Nav1.7通道功能的分子。 Nav1.7通道水平和/或功能的局部抑制将发生在背根神经节的外周感觉神经元中。

    SUPPRESSION OF SCN9A GENE EXPRESSION AND/OR FUNCTION FOR THE TREATMENT OF PAIN
    10.
    发明申请
    SUPPRESSION OF SCN9A GENE EXPRESSION AND/OR FUNCTION FOR THE TREATMENT OF PAIN 有权
    抑制SCN9A基因表达和/或功能治疗疼痛

    公开(公告)号:US20100273857A1

    公开(公告)日:2010-10-28

    申请号:US12676596

    申请日:2008-09-05

    CPC分类号: C12N15/1138 C12N2310/14

    摘要: Disclosed herein are methods, sequences and nucleic acid molecules used to treat pain. Specifically, the methods and sequences include locally administering molecules that suppress the expression of amino acid sequences that encode for Nav1.7 channels or that otherwise inhibit the function of Nav1.7 channels. Local suppression of Nav1.7 channel levels and/or function will occur in the peripheral sensory neurons of the dorsal root ganglia.

    摘要翻译: 本文公开了用于治疗疼痛的方法,序列和核酸分子。 具体地,所述方法和序列包括局部施用抑制编码Nav1.7通道的氨基酸序列的表达或者否则抑制Nav1.7通道功能的分子。 Nav1.7通道水平和/或功能的局部抑制将发生在背根神经节的外周感觉神经元中。