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21. 发明授权

US07014997B2 Chromosome structural abnormality localization with single copy probes 失效
标题翻译：用单拷贝探针染色体结构异常定位
公开(公告)号：US07014997B2
公开(公告)日：2006-03-21
申请号：US09854867
申请日：2001-05-14
申请人： Joan H. M. Knoll , Peter K. Rogan
发明人： Joan H. M. Knoll , Peter K. Rogan
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02 , C07H21/04
CPC分类号： C12Q1/6876 , C12Q1/6841 , C12Q2600/156
摘要： Nucleic acid (e.g., DNA) hybridization probes are described which comprise a labeled, single copy nucleic acid which hybridizes to a deduced single copy sequence interval in target nucleic acid of known sequence. The probes, which are essentially free of repetitive sequences, can be used in hybridization analyses without adding repetitive sequence-blocking nucleic acids. This allows rapid and accurate detection of chromosomal abnormalities. The probes are preferably designed by first determining the sequence of at least one single copy interval in a target nucleic acid sequence, and developing corresponding hybridization probes which hybridize to at least a part of the deduced single copy sequence. In practice, the sequences of the target and of known genomic repetitive sequence representatives are compared in order to deduce locations of the single copy sequence intervals. The single copy probes can be developed by any variety of methods, such as PCR amplification, restriction or exonuclease digestion of purified genomic fragments, or direct synthesis of DNA sequences. This is followed by labeling of the probes and hybridization to a target sequence.
摘要翻译：描述了核酸（例如DNA）杂交探针，其包含与已知序列的靶核酸中推断的单拷贝序列间隔杂交的标记的单拷贝核酸。基本上不含重复序列的探针可用于杂交分析，而不添加重复的序列阻断核酸。这样可以快速准确地检测染色体异常。探针优选通过首先确定靶核酸序列中至少一个单拷贝间隔的序列，并开发与所推导的单拷贝序列的至少一部分杂交的相应杂交探针来设计。在实践中，比较了靶和已知基因组重复序列代表的序列，以推导出单拷贝序列间隔的位置。单拷贝探针可以通过各种方法开发，如PCR扩增，纯化的基因组片段的限制或外切核酸酶消化，或直接合成DNA序列。然后将探针标记并与靶序列杂交。

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