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1.发明授权LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis 失效LMNA基因及其参与Hutchinson-Gilford Progeria综合征（HGPS）和动脉硬化公开(公告)号：US08535884B2
公开(公告)日：2013-09-17
申请号：US13229441
申请日：2011-09-09
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening.
摘要翻译： 本文公开了导致HGPS的LMNA基因中的点突变。 这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白质短50个氨基酸的突变Lamin A蛋白产物。 除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者中的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化和其他与年龄有关的疾病）的方法也是 描述。 还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及 在诊断，治疗和筛查中使用这些抗体的方法。
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2.发明授权LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis 有权LMNA基因及其参与Hutchinson-Gilford Progeria综合征（HGPS）和动脉硬化公开(公告)号：US08034557B2
公开(公告)日：2011-10-11
申请号：US11870234
申请日：2007-10-10
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening. Also provided are kits for carrying out the methods described herein.
摘要翻译： 本文公开了导致HGPS的LMNA基因中的点突变。 这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白短50个氨基酸的突变Lamin A蛋白产物。 除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化和其他与年龄有关的疾病）的方法， 还描述了治疗这些病症，选择治疗方法，筛选影响Lamin A活性的化合物的方法，以及影响LMNA或LMNA变体表达的方法。 还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及 在诊断，治疗和筛查中使用这些抗体的方法。 还提供了用于实施本文所述方法的试剂盒。
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3.发明授权Method and kits for detection of fragile X specific, GC-rich DNA sequences 失效用于检测脆性X特异性，富含GC的DNA序列的方法和试剂盒
公开(公告)号：US5658764A
公开(公告)日：1997-08-19
申请号：US488235
申请日：1995-06-07
CPC分类号： C12Q1/6883 , C12Q1/6848 , C12Q1/686 , C12Q1/6886
摘要： A method is provided for amplifying and detecting specific GC-rich nucleic acid sequences contained in a nucleic acid or in a mixture of nucleic acids, which includes treating a separate nucleic acid containing the specific sequence with a molar excess of primers and a polymerase and extending the primers in the presence of dATP, dCTP, TTP, and an analogue of dGTP. In one application of the present invention, individuals who are carriers for, or afflicted by, the fragile X syndrome are detected.
摘要翻译： 提供了用于扩增和检测核酸或核酸混合物中包含的特异性富含GC的核酸序列的方法，其包括用摩尔过量的引物和聚合酶处理含有特定序列的分离的核酸和扩增 在dATP，dCTP，TTP和dGTP的类似物存在下引物。 在本发明的一个应用中，检测作为脆弱X综合征的载体或受其影响的个体。
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4.发明授权LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis 有权LMNA基因及其参与Hutchinson-Gilford Progeria综合征（HGPS）和动脉硬化公开(公告)号：US07297492B2
公开(公告)日：2007-11-20
申请号：US10943400
申请日：2004-09-17
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening. Also provided are kits for carrying out the methods described herein.
摘要翻译： 本文公开了导致HGPS的LMNA基因中的点突变。 这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白短50个氨基酸的突变Lamin A蛋白产物。 除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化和其他与年龄相关的疾病）的方法， 还描述了治疗这些病症，选择治疗方法，筛选影响Lamin A活性的化合物的方法，以及影响LMNA或LMNA变体表达的方法。 还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及 在诊断，治疗和筛查中使用这些抗体的方法。 还提供了用于实施本文所述方法的试剂盒。
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5.发明申请LMNA GENE AND ITS INVOLVEMENT IN HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS) AND ARTERIOSCLEROSIS 失效LMNA基因及其在HUTCHINSON-GILFORD PROGERIA SYNDROME（HGPS）和ARTERIOSCLEROSIS中的参与公开(公告)号：US20120045762A1
公开(公告)日：2012-02-23
申请号：US13229441
申请日：2011-09-09
IPC分类号： C12Q1/68 , G01N21/64 , G01N33/566
CPC分类号： C07K14/47 , C12Q1/6883 , C12Q1/6886 , C12Q2600/136 , C12Q2600/156 , G01N2500/04 , Y10T436/143333
摘要： Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening.
摘要翻译： 本文公开了导致HGPS的LMNA基因中的点突变。 这些突变激活LMNA基因内的隐性剪接位点，导致部分外显子11的缺失和产生比正常蛋白短50个氨基酸的突变Lamin A蛋白产物。 除了新型Lamin A变体蛋白和编码该变体的核酸之外，使用这些分子检测与受试者中的LMNA突变相关的生物学条件（例如，HGPS，动脉硬化症和其他与年龄有关的疾病）的方法也是 描述。 还提供了用于所述方法的实施例的寡核苷酸和其它化合物，以及优选与野生型Lamin A相比特异性结合Lamin A变体蛋白的至少一个表位的蛋白质特异性结合剂，例如抗体，以及 在诊断，治疗和筛查中使用这些抗体的方法。
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6.发明授权Method and kits for detection of fragile X specific, GC-rich DNA sequences 失效用于检测脆性X特异性，富含GC的DNA序列的方法和试剂盒公开(公告)号：US06200747B1
公开(公告)日：2001-03-13
申请号：US07827691
申请日：1992-01-28
IPC分类号： C12Q168
CPC分类号： C12Q1/6883 , C12Q1/6848 , C12Q1/686 , C12Q1/6886 , C12Q2525/101 , C12Q2527/107
摘要： A method is provided for amplifying and detecting specific GC-rich nucleic acid sequences contained in a nucleic acid or in a mixture of nucleic acids, which includes treating a separate nucleic acid containing the specific sequence with a molar excess of primers and a polymerase and extending the primers in the presence of dATP, dCTP, TTP, and an analogue of dGTP. In one application of the present invention, individuals who are carriers for, or afflicted by, the fragile X syndrome are detected.
摘要翻译： 提供了用于扩增和检测核酸或核酸混合物中包含的特异性富含GC的核酸序列的方法，其包括用摩尔过量的引物和聚合酶处理含有特定序列的分离的核酸和扩增 在dATP，dCTP，TTP和dGTP的类似物存在下引物。 在本发明的一个应用中，检测作为脆弱X综合征的载体或受其影响的个体。
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