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    • 1. 发明申请
    • METHOD FOR DIAGNOSING SPINAL MUSCULAR ATROPHY
    • 用于诊断脊柱肌瘤的方法
    • US20110033861A1
    • 2011-02-10
    • US12910849
    • 2010-10-24
    • Shou-Mei WuChun-Chiu WangJan-Gowth ChangYuh-Jyh Jong
    • Shou-Mei WuChun-Chiu WangJan-Gowth ChangYuh-Jyh Jong
    • C12Q1/68
    • C12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/16Y10S435/975
    • 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.
    • 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
    • METHOD FOR DIAGNOSING SPINAL MUSCULAR ATROPHY
    • 用于诊断脊柱肌瘤的方法
    • US20120196290A1
    • 2012-08-02
    • US13015450
    • 2011-01-27
    • SHOU-MEI WUCHUN-CHI WANGJAN-GOWTH CHANGYUH-JYH JONG
    • SHOU-MEI WUCHUN-CHI WANGJAN-GOWTH CHANGYUH-JYH JONG
    • C12Q1/68
    • C12Q1/6883C12Q2600/118C12Q2600/156
    • 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.
    • 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
    • Method for diagnosing spinal muscular atrophy
    • 脊柱肌肉萎缩诊断方法
    • US07875432B2
    • 2011-01-25
    • US12497900
    • 2009-07-06
    • Shou-Mei WuChun-Chiu WangJan-Gowth ChangYuh-Jyh Jong
    • Shou-Mei WuChun-Chiu WangJan-Gowth ChangYuh-Jyh Jong
    • C12Q1/68
    • C12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/16Y10S435/975
    • 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.
    • 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
    • METHOD FOR DIAGNOSING SPINAL MUSCULAR ATROPHY
    • 用于诊断脊柱肌瘤的方法
    • US20100233688A1
    • 2010-09-16
    • US12497900
    • 2009-07-06
    • Shou-Mei WuChun-Chiu WangJan-Gowth ChangYuh-Jyh Jong
    • Shou-Mei WuChun-Chiu WangJan-Gowth ChangYuh-Jyh Jong
    • C12Q1/68
    • C12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/16Y10S435/975
    • 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.
    • 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。