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公开(公告)号：US07709194B2
公开(公告)日：2010-05-04
申请号：US11144951
申请日：2005-06-03
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Yu-kwan Tong , Chunming Ding
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Yu-kwan Tong , Chunming Ding
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/154 , C12Q2600/156 , C12Q2521/331
摘要： The present invention relates to new methods for diagnosing a pregnancy-associated disorder by analyzing fetal DNA present in the mother's blood. More specifically, this invention relies on the discovery that the maspin gene is differentially methylated in fetal DNA and in maternal DNA and provides these new diagnostic methods, which distinguish fetal DNA from maternal DNA and detect prenatal disorders based on abnormalities in fetal DNA level and methylation status.
摘要翻译： 本发明涉及通过分析存在于母亲血液中的胎儿DNA来诊断妊娠相关疾病的新方法。 更具体地说，本发明依赖于maspin基因在胎儿DNA和母体DNA中差异甲基化的发现，并提供了这些新的诊断方法，其将胎儿DNA与母体DNA区分开，并根据胎儿DNA水平和甲基化异常检测产前疾病 状态。
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公开(公告)号：US08026067B2
公开(公告)日：2011-09-27
申请号：US12724335
申请日：2010-03-15
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Yu-kwan Tong , Chunming Ding
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Yu-kwan Tong , Chunming Ding
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/154 , C12Q2600/156 , C12Q2521/331
摘要： The present invention relates to new methods for diagnosing a pregnancy-associated disorder by analyzing fetal DNA present in the mother's blood. More specifically, this invention relies on the discovery that the maspin gene is differentially methylated in fetal DNA and in maternal DNA and provides these new diagnostic methods, which distinguish fetal DNA from maternal DNA and detect prenatal disorders based on abnormalities in fetal DNA level and methylation status.
摘要翻译： 本发明涉及通过分析存在于母亲血液中的胎儿DNA来诊断妊娠相关疾病的新方法。 更具体地说，本发明依赖于maspin基因在胎儿DNA和母体DNA中差异甲基化的发现，并提供了这些新的诊断方法，其将胎儿DNA与母体DNA区分开，并根据胎儿DNA水平和甲基化异常检测产前疾病 状态。
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3.发明授权Methods for detecting fetal DNA in a plasma or serum sample from a pregnant woman 有权检测孕妇血浆或血清样品中胎儿DNA的方法公开(公告)号：US08288100B2
公开(公告)日：2012-10-16
申请号：US12791776
申请日：2010-06-01
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
CPC分类号： C12Q1/68 , C12Q1/6876 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156
摘要： This application describes the discovery that, in a pregnant woman, certain genes (such as RASSF1A, APC, CASP8, RARB, SCGB3A1, DAB2IP, PTPN6, THY1, TMEFF2, and PYCARD) originated from a fetus are highly methylated, whereas the same genes of maternal origin are unmethylated. This discovery allows the easy detection of one or more of these methylated fetal genes in a biological sample from a pregnant woman, serving as a universal indicator of the presence of fetal DNA in the sample. These fetal methylation markers are particularly useful as positive controls for a non-invasive analytical process during which the quality and quantity of fetal DNA are monitored. These newly identified fetal markers can also be measured directly for diagnosis of certain pregnancy-related conditions.
摘要翻译： 该应用描述了在孕妇中发现来自胎儿的某些基因（如RASSF1A，APC，CASP8，RARB，SCGB3A1，DAB2IP，PTPN6，THY1，TMEFF2和PYCARD）高度甲基化，而相同的基因 产妇来源是未甲基化。 该发现允许从孕妇的生物样品中容易地检测这些甲基化胎儿基因中的一种或多种，作为样品中胎儿DNA存在的通用指标。 这些胎儿甲基化标记物作为非侵入性分析过程的阳性对照特别有用，在此过程中监测胎儿DNA的质量和数量。 这些新确定的胎儿标记物也可以直接测量以诊断某些妊娠相关病症。
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公开(公告)号：US20110143342A1
公开(公告)日：2011-06-16
申请号：US12791776
申请日：2010-06-01
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
IPC分类号： C12Q1/68
CPC分类号： C12Q1/68 , C12Q1/6876 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156
摘要： This application describes the discovery that, in a pregnant woman, certain genes (such as RASSF1A, APC, CASP8, RARB, SCGB3A1, DAB2IP, PTPN6, THY1, TMEFF2, and PYCARD) originated from a fetus are highly methylated, whereas the same genes of maternal origin are unmethylated. This discovery allows the easy detection of one or more of these methylated fetal genes in a biological sample from a pregnant woman, serving as a universal indicator of the presence of fetal DNA in the sample. These fetal methylation markers are particularly useful as positive controls for a non-invasive analytical process during which the quality and quantity of fetal DNA are monitored. These newly identified fetal markers can also be measured directly for diagnosis of certain pregnancy-related conditions.
摘要翻译： 该应用描述了在孕妇中发现来自胎儿的某些基因（如RASSF1A，APC，CASP8，RARB，SCGB3A1，DAB2IP，PTPN6，THY1，TMEFF2和PYCARD）高度甲基化，而相同的基因 产妇来源是未甲基化。 该发现允许从孕妇的生物样品中容易地检测这些甲基化胎儿基因中的一种或多种，作为样品中胎儿DNA存在的通用指标。 这些胎儿甲基化标记物作为非侵入性分析过程的阳性对照特别有用，在此过程中监测胎儿DNA的质量和数量。 这些新确定的胎儿标记物也可以直接测量以诊断某些妊娠相关病症。
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公开(公告)号：US07901884B2
公开(公告)日：2011-03-08
申请号：US11784499
申请日：2007-04-06
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Shengnan Jin , Tracy Yuen Han Lee , Fiona Miu Fun Lun
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Shengnan Jin , Tracy Yuen Han Lee , Fiona Miu Fun Lun
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/154 , C12Q2600/156 , C12Q2523/125
摘要： This application provides the use of novel fetal markers for prenatal diagnosis and monitoring of certain pregnancy-related conditions. More specifically, the invention resides in the discovery that certain CpG islands located on fetal chromosome 21 demonstrate a methylation profile that is distinct from that of the corresponding CpG islands located on maternal chromosome 21. This application also provides kits for diagnosing or monitoring of the relevant conditions.
摘要翻译： 该应用提供了新颖的胎儿标记物用于产前诊断和监测某些妊娠相关病症的用途。 更具体地，本发明在于发现位于胎儿染色体21上的某些CpG岛表现出与位于母体染色体21上的相应CpG岛不同的甲基化谱。该应用还提供用于诊断或监测相关 条件。
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公开(公告)号：US07754428B2
公开(公告)日：2010-07-13
申请号：US11784501
申请日：2007-04-06
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
CPC分类号： C12Q1/68 , C12Q1/6876 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156
摘要： This application describes the discovery that, in a pregnant woman, certain genes (such as RASSF1A, APC, CASP8, RARB, SCGB3A1, DAB2IP, PTPN6, THY1, TMEFF2, and PYCARD) originated from a fetus are highly methylated, whereas the same genes of maternal origin are unmethylated. This discovery allows the easy detection of one or more of these methylated fetal genes in a biological sample from a pregnant woman, serving as a universal indicator of the presence of fetal DNA in the sample. These fetal methylation markers are particularly useful as positive controls for a non-invasive analytical process during which the quality and quantity of fetal DNA are monitored. These newly identified fetal markers can also be measured directly for diagnosis of certain pregnancy-related conditions.
摘要翻译： 该应用描述了在孕妇中发现来自胎儿的某些基因（如RASSF1A，APC，CASP8，RARB，SCGB3A1，DAB2IP，PTPN6，THY1，TMEFF2和PYCARD）高度甲基化，而相同的基因 产妇来源是未甲基化。 该发现允许从孕妇的生物样品中容易地检测这些甲基化胎儿基因中的一种或多种，作为样品中胎儿DNA存在的通用指标。 这些胎儿甲基化标记物作为非侵入性分析过程的阳性对照特别有用，在此过程中监测胎儿DNA的质量和数量。 这些新确定的胎儿标记物也可以直接测量以诊断某些妊娠相关病症。
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公开(公告)号：US20090155776A1
公开(公告)日：2009-06-18
申请号：US11784501
申请日：2007-04-06
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Stephen Siu Chung Chim , Chunming Ding , Kwan Chee Chan , Hing Nam Ivy Wong , Ka Chun Ryan Yuen
IPC分类号： C12Q1/68
CPC分类号： C12Q1/68 , C12Q1/6876 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156
摘要： This application describes the discovery that, in a pregnant woman, certain genes (such as RASSF1A, APC, CASP8, RARB, SCGB3A1, DAB2IP, PTPN6, THY1, TMEFF2, and PYCARD) originated from a fetus are highly methylated, whereas the same genes of maternal origin are unmethylated. This discovery allows the easy detection of one or more of these methylated fetal genes in a biological sample from a pregnant woman, serving as a universal indicator of the presence of fetal DNA in the sample. These fetal methylation markers are particularly useful as positive controls for a non-invasive analytical process during which the quality and quantity of fetal DNA are monitored. These newly identified fetal markers can also be measured directly for diagnosis of certain pregnancy-related conditions.
摘要翻译： 该应用描述了在孕妇中发现来自胎儿的某些基因（如RASSF1A，APC，CASP8，RARB，SCGB3A1，DAB2IP，PTPN6，THY1，TMEFF2和PYCARD）高度甲基化，而相同的基因 产妇来源是未甲基化。 该发现允许从孕妇的生物样品中容易地检测这些甲基化胎儿基因中的一种或多种，作为样品中胎儿DNA存在的通用指标。 这些胎儿甲基化标记物作为非侵入性分析过程的阳性对照特别有用，在此过程中监测胎儿DNA的质量和数量。 这些新确定的胎儿标记物也可以直接测量以诊断某些妊娠相关病症。
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公开(公告)号：US08563242B2
公开(公告)日：2013-10-22
申请号：US12833460
申请日：2010-07-09
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Yu Kwan Tong , Shengnan Jin , Siu Chung Stephen Chim , Wai Yi Tsui
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Yu Kwan Tong , Shengnan Jin , Siu Chung Stephen Chim , Wai Yi Tsui
CPC分类号： C12Q1/6827 , C12Q2523/125
摘要： The present invention relates to a new, non-invasive method for detecting chromosomal aneuploidy by analyzing a sample from a pregnant woman. The detection is based on the ratio between the amount of a fetal methylation marker located on a chromosome relevant to the aneuploidy and the amount of a fetal genetic marker located on a reference chromosome, offering improved accuracy.
摘要翻译： 本发明涉及通过分析来自孕妇的样品来检测染色体非整倍体的新的非侵入性方法。 检测是基于位于与非整倍性相关的染色体上的胎儿甲基化标记的量与位于参考染色体上的胎儿遗传标记的量之间的比例，提供更高的准确度。
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公开(公告)号：US20110039724A1
公开(公告)日：2011-02-17
申请号：US12833460
申请日：2010-07-09
申请人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Yu Kwan Tong , Shengnan Jin , Siu Chung Stephen Chim , Wai Yi Tsui
发明人： Yuk Ming Dennis Lo , Rossa Wai Kwun Chiu , Yu Kwan Tong , Shengnan Jin , Siu Chung Stephen Chim , Wai Yi Tsui
CPC分类号： C12Q1/6827 , C12Q2523/125
摘要： The present invention relates to a new, non-invasive method for detecting chromosomal aneuploidy by analyzing a sample from a pregnant woman. The detection is based on the ratio between the amount of a fetal methylation marker located on a chromosome relevant to the aneuploidy and the amount of a fetal genetic marker located on a reference chromosome, offering improved accuracy.
摘要翻译： 本发明涉及通过分析来自孕妇的样品来检测染色体非整倍体的新的非侵入性方法。 检测是基于位于与非整倍性相关的染色体上的胎儿甲基化标记的量与位于参考染色体上的胎儿遗传标记的量之间的比例，提供更高的准确性。
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10.发明授权Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences 有权用于选择性扩增，检测或定量具有特定末端序列的靶DNA的方法和试剂盒公开(公告)号：US08748100B2
公开(公告)日：2014-06-10
申请号：US11897654
申请日：2007-08-30
CPC分类号： C12Q1/686 , C12Q2525/301 , C12Q2521/331
摘要： Disclosed herein are methods and kits for selectively amplifying, detecting or quantifying a DNA fragment with a specific end sequence, especially generated following restriction enzyme digestion. This method can be used, for example, to detect a hypomethylated DNA fragment. This methods and kits are especially useful in detecting or quantifying a hypomethylated fetal DNA fragment in a maternal plasma sample containing a corresponding hypermethylated maternal DNA fragment.
摘要翻译： 本文公开了用于选择性扩增，检测或定量具有特异末端序列的DNA片段的方法和试剂盒，特别是在限制酶消化后产生。 该方法可用于例如检测低甲基化DNA片段。 该方法和试剂盒特别可用于检测或定量含有相应的高甲基化母体DNA片段的母体血浆样品中的低甲基化胎儿DNA片段。
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