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1. 发明申请

US20110033861A1 METHOD FOR DIAGNOSING SPINAL MUSCULAR ATROPHY 有权
标题翻译：用于诊断脊柱肌瘤的方法
公开(公告)号：US20110033861A1
公开(公告)日：2011-02-10
申请号：US12910849
申请日：2010-10-24
申请人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
发明人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , Y10S435/975
摘要： A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.
摘要翻译：提供了一种诊断脊髓性肌萎缩的方法。该方法包括提供含有SMN基因核苷酸的受试者的生物样品，通过使用该核苷酸作为模板的通用多重PCR扩增SMN外显子1,2a，2b,3,4,5,6,7和8，以及引物以获得SMN外显子1,2a，2b，3,4,5,6,7和8的片段，标记SMN外显子1,2a，2b，3,4,5,6,7的片段通过荧光引物获得荧光标记的外显子片段，并通过毛细管电泳分析荧光标记的外显子片段。如果外显子7和8中的SMN1 / SMN2比例不同，则表明受试者易受脊髓性肌肉萎缩。另外，如果某些外显子片段的峰出现杂交，则表示外显子中具有基因内突变。

2. 发明申请

US20120196290A1 METHOD FOR DIAGNOSING SPINAL MUSCULAR ATROPHY 审中-公开
标题翻译：用于诊断脊柱肌瘤的方法
公开(公告)号：US20120196290A1
公开(公告)日：2012-08-02
申请号：US13015450
申请日：2011-01-27
申请人： SHOU-MEI WU , CHUN-CHI WANG , JAN-GOWTH CHANG , YUH-JYH JONG
发明人： SHOU-MEI WU , CHUN-CHI WANG , JAN-GOWTH CHANG , YUH-JYH JONG
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/118 , C12Q2600/156
摘要： A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis under a optimized separation condition. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.
摘要翻译：提供了一种诊断脊髓性肌萎缩的方法。该方法包括提供含有SMN基因核苷酸的受试者的生物样品，通过使用该核苷酸作为模板的通用多重PCR扩增SMN外显子1,2a，2b,3,4,5,6,7和8，以及引物以获得SMN外显子1,2a，2b，3,4,5,6,7和8的片段，标记SMN外显子1,2a，2b，3,4,5,6,7的片段和8，通过荧光引物获得荧光标记的外显子片段，并通过毛细管电泳在优化的分离条件下分析荧光标记的外显子片段。如果外显子7和8中的SMN1 / SMN2比例不同，则表明受试者易受脊髓性肌肉萎缩。另外，如果某些外显子片段的峰出现杂交，则表示外显子中具有基因内突变。

3. 发明授权

US07875432B2 Method for diagnosing spinal muscular atrophy 有权
标题翻译：脊柱肌肉萎缩诊断方法
公开(公告)号：US07875432B2
公开(公告)日：2011-01-25
申请号：US12497900
申请日：2009-07-06
申请人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
发明人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , Y10S435/975
摘要： A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.
摘要翻译：提供了一种诊断脊髓性肌萎缩的方法。该方法包括提供含有SMN基因核苷酸的受试者的生物样品，通过使用该核苷酸作为模板的通用多重PCR扩增SMN外显子1,2a，2b,3,4,5,6,7和8，以及引物以获得SMN外显子1,2a，2b，3,4,5,6,7和8的片段，标记SMN外显子1,2a，2b，3,4,5,6,7的片段通过荧光引物获得荧光标记的外显子片段，并通过毛细管电泳分析荧光标记的外显子片段。如果外显子7和8中的SMN1 / SMN2比例不同，则表明受试者易受脊髓性肌肉萎缩。另外，如果某些外显子片段的峰出现杂交，则表示外显子中具有基因内突变。

4. 发明申请

US20100233688A1 METHOD FOR DIAGNOSING SPINAL MUSCULAR ATROPHY 有权
标题翻译：用于诊断脊柱肌瘤的方法
公开(公告)号：US20100233688A1
公开(公告)日：2010-09-16
申请号：US12497900
申请日：2009-07-06
申请人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
发明人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , Y10S435/975
摘要： A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.
摘要翻译：提供了一种诊断脊髓性肌萎缩的方法。该方法包括提供含有SMN基因核苷酸的受试者的生物样品，通过使用该核苷酸作为模板的通用多重PCR扩增SMN外显子1,2a，2b,3,4,5,6,7和8，以及引物以获得SMN外显子1,2a，2b，3,4,5,6,7和8的片段，标记SMN外显子1,2a，2b，3,4,5,6,7的片段通过荧光引物获得荧光标记的外显子片段，并通过毛细管电泳分析荧光标记的外显子片段。如果外显子7和8中的SMN1 / SMN2比例不同，则表明受试者易受脊髓性肌肉萎缩。另外，如果某些外显子片段的峰出现杂交，则表示外显子中具有基因内突变。

5. 发明授权

US08067568B2 Method for diagnosing spinal muscular atrophy 有权
公开(公告)号：US08067568B2
公开(公告)日：2011-11-29
申请号：US12910849
申请日：2010-10-24
申请人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
发明人： Shou-Mei Wu , Chun-Chiu Wang , Jan-Gowth Chang , Yuh-Jyh Jong
IPC分类号： C07H21/04
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , Y10S435/975
摘要： A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.

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