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    • 103. 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。
    • 108. 发明申请
    • Method for biochip detecting limited cells
    • 生物芯片检测有限细胞的方法
    • US20060068396A1
    • 2006-03-30
    • US10948224
    • 2004-09-24
    • Shiu-Ru LinTian-Lu ChengYi-Fang ChenChan-Han Wu
    • Shiu-Ru LinTian-Lu ChengYi-Fang ChenChan-Han Wu
    • C12Q1/68
    • C12Q1/6837C12Q2565/507
    • The present invention is a method for a biochip detecting limited cells. The present invention comprises steps of: obtaining a nylon membrane chip having required nucleotide fragments arranged in a dot matrix way by using a manual spotter; naturally drying by heat and fixing the nucleotide fragments on the nylon membrane chip by a rapid nucleic acid cross-linker when preparing a chip; collecting some normal whole blood to be linearly amplified; synthesizing required amount of cDNA by a reverse transcription to obtain a marker as a probe; processing labeling, hybridization and post-hybridization to the chip and the marker; processing chemical color reaction; and automatically analyzing the result image after the chemical color reaction. Accordingly, a gene biochip operation technology platform with low cost, easy operation and high efficiency is obtained. And so the functions and the applications of the gene biochip can be effectively worked out and the practical applications of the gene biochip on related fields can be conclusively popularized.
    • 本发明是一种检测有限细胞的生物芯片的方法。 本发明包括以下步骤:通过使用手动打斑机获得具有以点阵方式布置的所需核苷酸片段的尼龙膜芯片; 通过加热自然干燥,并在制备芯片时通过快速核酸交联剂固定尼龙膜芯片上的核苷酸片段; 收集一些正常全血要线性扩增; 通过逆转录合成所需量的cDNA以获得作为探针的标记; 加工标记,杂交和后期杂交到芯片和标记物; 加工化学色素反应; 并在化学反应后自动分析结果图像。 因此,获得了低成本,易于操作和高效率的基因生物芯片操作技术平台。 因此可以有效地制定基因生物芯片的功能和应用,基因生物芯片在相关领域的实际应用可以得到最终推广。