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    • 1. 发明申请
    • DETECTION OF CHROMOSOMAL DISORDERS
    • 检测染色体异常
    • WO2005111237A1
    • 2005-11-24
    • PCT/US2005/013070
    • 2005-04-18
    • BIOCEPT, INC.XIE, ZhiyiHAHN, SoonkapWATANASKUL, Tim
    • XIE, ZhiyiHAHN, SoonkapWATANASKUL, Tim
    • C12Q1/68
    • C12Q1/6837C12Q2537/143C12Q2531/113
    • Methods for detecting in a single assay any one of multiple chromosomal disorders that result from aneuploidy or certain mutations, particularly mic;rodeletions, and kits for use therein. A poly erase chain reaction (PCR) is carried out to amplify eukaryotic genomic DNA using a plurality of primer oligonucleotide pairs wherein one primer of each pair has a detecta~ a label attached 5 thereto. A plurality of the primer pairs are targeted to DNA segments of different chromosomes of interest which are indicative of potential chromosomal disorders, and one pair is targeted for a control gene. The amplified PCR products are purified, and single-stranded DNA having the detecta+e labels is obtained therefrom and hybridized with spots on a microarray that each contain DNA oligonucleotide probes having nucleotide sequences complementary to a nucleotide sequence of one strand of each segment. The microarray is imaged for presence of labels on its respective spots, and the absence or presence of chromosomal disorders as indicated by one or more of the targeted DNA segments of interest is diagnosed by first comparing the imaging results to the imaging of spots specific to the control gene and then to results obtained from imaging normal DNA.
    • 用于在单次测定中检测由非整倍体或某些突变,特别是麦克风,滚球和其中使用的试剂盒引起的多种染色体紊乱中的任何一种的方法。 进行多重擦除链反应(PCR)以使用多个引物寡核苷酸对扩增真核基因组DNA,其中每对的一个引物具有附着于其上的标记5。 多个引物对靶向不同染色体的DNA片段,其指示潜在的染色体病症,一对靶向对照基因。 纯化扩增的PCR产物,从中获得具有检测+ e标记的单链DNA,并与微阵列上的斑点杂交,每个点含有具有与每个片段的一条链的核苷酸序列互补的核苷酸序列的DNA寡核苷酸探针。 成像微阵列以在其各自的斑点上存在标记,并且通过首先将成像结果与成像特异性的斑点的成像进行比较来诊断由一个或多个目标DNA片段指示的染色体病症的不存在或存在 控制基因,然后从成像正常DNA获得的结果。