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2. 发明申请

WO2005113834A2 SINGLE LABEL COMPARATIVE HYBRIDIZATION 审中-公开
标题翻译：单标签比较混合
公开(公告)号：WO2005113834A2
公开(公告)日：2005-12-01
申请号：PCT/US2005017986
申请日：2005-05-19
申请人： QUEST DIAGNOSTICS INVEST INC , MOHAMMED MANSOOR S , DZIDIC NATASA , MCCASKILL CHRISTOPHER , KIM JAEWEON
发明人： MOHAMMED MANSOOR S , DZIDIC NATASA , MCCASKILL CHRISTOPHER , KIM JAEWEON
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6837 , C12Q1/6823 , C12Q1/6825 , C12Q1/6841 , C12Q1/6883 , C12Q2600/16 , C12Q2565/501 , C12Q2539/101 , C12Q2537/155 , C12Q2545/107
摘要： The present invention provides methods of detecting and mapping chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases, or to detecting the phenomena of large scale copy number variants. In particular, the present invention provides advanced methods of performing array-based comparative hybridization that allow reproducibility between samples and enhanced sensitivity by using the same detectable label for both test sample and reference sample nucleic acids. Invention methods are useful for the detection or diagnosis of particular disease conditions such as cancer, and detecting predisposition to cancer based on detection of chromosomal or genetic abnormalities and gene expression level. Invention methods are also useful for the detection or diagnosis of hereditary genetic disorders or predisposition thereto, especially in prenatal samples. Moreover, invention methods are also useful for the detection or diagnosis of de novo genetic aberrations associated with post-natal developmental abnormalities.
摘要翻译：本发明提供了检测和映射与各种疾病相关的染色体或遗传异常或具有各种疾病倾向的方法，或者检测大规模拷贝数变体的现象。特别地，本发明提供了进行基于阵列的比较杂交的先进方法，其通过使用相同的可检测标记用于测试样品和参照样品核酸，从而允许样品之间的再现性和增强的灵敏度。本发明方法可用于检测或诊断特定的疾病状况如癌症，并且基于染色体或遗传异常和基因表达水平的检测来检测癌症易感性。本发明的方法也可用于遗传性遗传疾病或其易感性的检测或诊断，特别是在产前样品中。此外，发明方法也可用于检测或诊断与产后发育异常相关的从头遗传畸变。

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