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1.发明授权Method for aiding in the diagnosis of in-frame deletion type congenital muscular dystrophy 失效帮助诊断框内缺失型先天性肌营养不良症的方法
公开(公告)号：US6136546A
公开(公告)日：2000-10-24
申请号：US57740
申请日：1998-04-09
IPC分类号： G01N33/68 , G01N33/53 , G01N1/30 , G01N33/567
CPC分类号： G01N33/6887 , G01N2800/2878
摘要： Disclosed are compositions and methods for aiding in the diagnosis of congenital muscular dystrophy associated with in-frame deletion in the laminin-2 .alpha.2 polypeptide chain in an individual. In a preferred diagnostic method embodiment, an experimental muscle tissue sample is provided from the individual and treated if necessary to render components available for antibody binding. The components of the sample are then separated on the basis of molecular weight. The separated protein components are then transferred to a solid support while maintaining the relative positions established in separation step. The transferred components are then stained with an affinity reagent which is known to bind to a C-terminal domain of the laminin-2 .alpha.2 polypeptide chain. Individual afflicted with congenital muscular dystrophy associated with in-frame deletion in the laminin-2 .alpha.2 polypeptide chain on the basis of positive staining in combination with reduced molecular weight of the laminin-2 .alpha.2 polypeptide chain relative to the wild-type laminin-2 .alpha.2 polypeptide chain. A preferred composition is a nucleic acid probe for the detection of merosin deletion-type congenital muscular dystrophy. The preferred nucleic acid probe is characterized by the ability to bind specifically to a mutant merosin nucleic acid sequence, the mutant merosin nucleic acid sequence comprising a T to C substitution at position 3973 +2 of the consensus donor splice site of exon 25.
摘要翻译： 公开了用于帮助诊断个体中层粘连蛋白-2α2多肽链中与框内缺失相关的先天性肌营养不良的组合物和方法。 在优选的诊断方法实施方案中，从个体提供实验肌肉组织样品，并且如果需要进行处理以使组分可用于抗体结合。 然后基于分子量分离样品的组分。 然后将分离的蛋白质组分转移到固体支持物中，同时保持在分离步骤中建立的相对位置。 转移的组分然后用已知结合层粘连蛋白-2α2多肽链的C末端结构域的亲和试剂染色。 基于阳性染色结合层粘连蛋白-2α2多肽链相对于野生型层粘连蛋白的层粘连蛋白-2α2多肽链的分子量降低而与层粘连蛋白-2α2多肽链中的框内缺失相关的先天性肌营养不良患者， 2α2多肽链。 优选的组合物是用于检测梅洛辛缺失型先天性肌营养不良症的核酸探针。 优选的核酸探针的特征在于特异性结合突变型子糖蛋白核酸序列的能力，所述突变蛋清核酸序列包含外显子25的共有供体剪接位点的第3973±2位的T至C取代。
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公开(公告)号：US5733732A
公开(公告)日：1998-03-31
申请号：US582539
申请日：1996-01-03
申请人： Kevin P. Campbell , Steven L. Roberds , Yoshihide Sunada , Federica Piccolo , Marc Jeanpierre , Jean-Claude Kaplan
发明人： Kevin P. Campbell , Steven L. Roberds , Yoshihide Sunada , Federica Piccolo , Marc Jeanpierre , Jean-Claude Kaplan
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： Disclosed herein are compositions and methods for the detection of primary adhalinopathy. More specifically, disclosed herein are nucleic acid probes which hybridize specifically, under stringent hybridization conditions, to a mutant adhalin gene or the complement thereof, but not to the corresponding region of a wild-type adhalin gene. Also disclosed are methods for the detection of a mutation in the human adhalin gene which is responsible for primary adhalinopathy. Such methods include the use of the nucleic acid probes of the invention for detection of the myopathy by hybridization, as well as detection by direct DNA sequencing techniques.
摘要翻译： 本文公开了用于检测原发性腺瘤病的组合物和方法。 更具体地，本文公开了在严格杂交条件下特异性与突变体阿达肝素基因或其互补序列而不是野生型腺恶素基因的相应区域杂交的核酸探针。 还公开了用于检测负责原代腺病变的人腺酸基因突变的方法。 这些方法包括使用本发明的核酸探针通过杂交检测肌病，以及通过直接DNA测序技术的检测。
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公开(公告)号：US5863743A
公开(公告)日：1999-01-26
申请号：US289668
申请日：1994-08-12
CPC分类号： G01N33/6887 , G01N2333/4712 , G01N2800/2878 , Y10S435/96 , Y10S436/811
摘要： Disclosed is a method for aiding in the diagnosis of merosin deficiency-type congenital muscular dystrophy (CMD). The method is based on the discovery of a previously unidentified form of CMD which is characterized by a substantial reduction in the levels of merosin in skeletal muscle tissue containing normal levels of dystrophin and dystrophin-associated proteins.
摘要翻译： 公开了一种帮助诊断梅洛辛缺乏型先天性肌营养不良症（CMD）的方法。 该方法基于以前未鉴定形式的CMD的发现，其特征在于含有正常水平的肌营养不良蛋白和肌营养不良蛋白相关蛋白的骨骼肌组织中肌糖蛋白水平的显着降低。
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公开(公告)号：US5672694A
公开(公告)日：1997-09-30
申请号：US547182
申请日：1995-10-24
申请人： Kevin P. Campbell , Leland Lim , Franck Duclos , Yoshihide Sunada , Jacques S. Beckmann , Odile Broux , Fernando M. S. Tome , Michel Fardeau , Charles E. Jackson
发明人： Kevin P. Campbell , Leland Lim , Franck Duclos , Yoshihide Sunada , Jacques S. Beckmann , Odile Broux , Fernando M. S. Tome , Michel Fardeau , Charles E. Jackson
CPC分类号： C07K14/4707 , C12Q1/6883 , A61K39/00 , C12Q2600/156 , C12Q2600/172
摘要： Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component (.beta.-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are immunogenic peptides which, when used to immunize a mammal, stimulate the production of antibodies which bind specifically to the .beta.-sarcoglycan. Mutations in the .beta.-sarcoglycan gene which are associated with autosomal recessive limb-girdle muscular dystrophy are also disclosed. The identification of such mutations enables the design of nucleic acid probes which hybridize specifically to a mutant form of .beta.-sarcoglycan, or the complement thereof, but not to the DNA of the wild-type form of the gene (or the complement thereof), under stringent hybridization conditions. Such probes are useful, for example, in connection with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. In addition, the identification of such mutations enables the diagnosis of autosomal recessive limb-girdle muscular dystrophy through the use of direct DNA sequencing techniques.
摘要翻译： 本文公开了编码肌营养不良蛋白 - 糖蛋白复合物的哺乳动物43kDa非肌营养不良蛋白成分（β-卡非糖）的基本上纯的核酸序列。 还公开了免疫原性肽，其当用于免疫哺乳动物时，刺激特异性结合β-糖聚糖的抗体的产生。 还公开了与常染色体隐性遗传性肢体肌营养不良症相关的β - 肌凝蛋白基因的突变。 这种突变的鉴定使得能够设计与β-丝裂核糖苷或其补体的突变形式特异性杂交的核酸探针，而不与野生型形式的基因（或其补体）的DNA杂交， 在严格的杂交条件下。 这样的探针可用于例如与常染色体隐性性腰带肌营养不良症的诊断有关。 此外，通过使用直接DNA测序技术，鉴定这种突变能够诊断常染色体隐性的腰带肌营养不良症。
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