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    • 6. 发明申请
    • VARIOUS GENES IMPLICATED IN PREMATURE CANITIES
    • 各种各样的基因都在预期的范围内
    • WO2005068650A2
    • 2005-07-28
    • PCT/EP2005000549
    • 2005-01-07
    • OREALDE LACHARRIERE OLIVIERBLOUIN JEAN-LOUISDELOCHE CLAIREANTONARAKIS STYLIANOS
    • DE LACHARRIERE OLIVIERBLOUIN JEAN-LOUISDELOCHE CLAIREANTONARAKIS STYLIANOS
    • A61K8/60A61K48/00A61Q5/00A61Q5/10C12Q1/68A61K7/06
    • A61Q5/10A61K8/606C12Q1/6883C12Q2600/156C12Q2600/172
    • Use of at least one polynucleotide fragment comprising at least 18 consecutive nucleotides the sequence of which corresponds to all or part of the region of the human chromosome 1 included between the markers D1S2797 and D1S2868, or between the marker D1S2842 and the telomer q, or to that of the region of the human chromosome 2 included between the markers D2S149 and D2S392, or of the region of the human chromosome 2 included between the markers D2S347 and D2S142, or of the region of the human chromosome 3 included between the markers D3S3567 and D3S1277, or between the markers D3S1285 and D3S3653, or of the region of the human chromosome 4 included between the markers D4S1501 and D4S408, or of the region of the human chromosome 6 included between the markers D6S308 and D6S1581, or of the region of the human chromosome 7 included between the markers D7S657 and D7S530, or between the markers D7S1824 and D7S615, or of the region of the human chromosome 9 included between the markers D9S1677 and D9S1682, or of the region of the human chromosome 10 included between the markers D10S591 and D10S547, or of the region of the human chromosome 12 included between the markers D12S310 and D12S85, or between the markers D12S99 and D12S364, or of the region of the human chromosome 15 included between the markers D15S1040 and D15S641, or between the markers D15S978 and D15S153, or of the region of the human chromosome 16 included between the markers D16S503 and D16S516, or between the markers D16S3030 and D16S50, or of the region of the human chromosome 18 included between the markers D18S464 and D18S1102, or of the region of the human chromosome 19 included between the markers D19S216 and D19S221, or of the region of the human chromosome 20 included between the markers D20S107 and D20S100, use of agents capable of modifying the function associated with one of these regions, use of expression products of one of these regions and use of agents capable of modifying the function of these expression products for cosmetic, therapeutic or diagnostic purposes.
    • 使用至少一个包含至少18个连续核苷酸的多核苷酸片段,其序列对应于包括在标记D1S2797和D1S2868之间或标记D1S2842与调节物q之间的人染色体1的全部或部分区域,或至少 标记D2S149和D2S392之间的人染色体2的区域或包含在标记D2S347和D2S142之间的人类染色体2的区域或包含在标记D3S3567和D3S1277之间的人类染色体3区域 或标记D3S1285和D3S3653之间或包含在标记D4S1501和D4S408之间的人类染色体4区域或包含在标记D6S308和D6S1581之间的人类染色体6的区域之间或人类区域 标记D7S657和D7S530之间或标记D7S1824和D7S615之间的染色体7或包含在标记D9S1之间的人染色体9区域 677和D9S1682,或包含在标记D10S591和D10S547之间的人类染色体10的区域,或包含在标记D12S310和D12S85之间或标记D12S99和D12S364之间或者标记D12S99和D12S364之间的区域 标记D15S1040和D15S641之间或标记D15S978和D15S153之间的人染色体15或包含在标记D16S503和D16S516之间的标记D16S3030和D16S516之间的区域或标记D16S3030和D16S50之间的区域 包括在标记D18S464和D18S1102之间的人类染色体18或包含在标记D19S216和D19S221之间的人类染色体19的区域或包含在标记D20S107和D20S100之间的人染色体20区域的使用的试剂 能够修改与这些区域之一相关联的功能,使用这些区域之一的表达产物和使用能够修饰t的功能的试剂 用于化妆品,治疗或诊断目的的表达产品。
    • 7. 发明申请
    • METHOD FOR DETECTING DISEASES CAUSED BY CHROMOSOMAL IMBALANCES
    • 检测由染色体不平衡引起的疾病的方法
    • WO03000919A3
    • 2003-06-19
    • PCT/US0219764
    • 2002-06-21
    • UNIV GENEVEANTONARAKIS STYLIANOSDEUTSCH SAMUEL
    • ANTONARAKIS STYLIANOSDEUTSCH SAMUEL
    • C12N15/09C12Q1/68C12P19/34
    • C12Q1/6883C12Q1/6827C12Q2600/156C12Q2531/113C12Q2565/301C12Q2545/101
    • The invention provides a universal method to detect the presence of chromosomal abnormalities by using paralogous genes as internal controls in an amplification reaction. The method is rapid, high throughput, and amenable to semi-automated analyses. In one aspect, the method comprises providing a pair of primers which can specifically hybridize to each of a set of paralogous genes under conditions used in amplification reactions, such as PCR. Paralogous genes are preferably on different chromosomes but may also be on the same chromosome (e.g., to detect loss or gain of different chromosome arms). By comparing the amount of amplified products generated, the relative dose of each gene can be determined and correlated with the relative dose of each chromosomal region and/or each chromosome, on which the gene is located.
    • 本发明提供了通过在扩增反应中使用旁系同源基因作为内部对照来检测染色体异常的存在的通用方法。 该方法快速,高通量,适用于半自动分析。 一方面,该方法包括提供一对引物,其可以在用于扩增反应如PCR的条件下与一组旁系同源基因中的每一个特异性杂交。 旁系同源基因优选在不同的染色体上,但也可以在同一染色体上(例如,检测不同染色体臂的丢失或获得)。 通过比较产生的扩增产物的量,可以确定每个基因的相对剂量,并与每个染色体区域和/或基因所在的每个染色体的相对剂量相关。