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    Haplotype analysis
    31.
    发明申请
    Haplotype analysis 有权
    单倍型分析

    公开(公告)号：US20070122805A1

    公开(公告)日：2007-05-31

    申请号：US10542043

    申请日：2004-01-16

    Applicant: Charles Cantor ,  Chunming Ding

    Inventor： Charles Cantor ,  Chunming Ding

    IPC: C12Q1/68 ,  C12P19/34

    CPC classification number: C12Q1/6827 ,  C12Q1/6858 ,  C12Q2600/156 ,  C12Q2527/137 ,  C12Q2537/143 ,  C12Q2565/627

    Abstract: The present invention provides an efficient way for high throughput haplotype analysis. Several polymorphic nucleic add markers, such as SNPs, can be simultaneously and reliably determined through multiplex PCR of single nucleic acid molecules in several parallel single molecule dilutions and the consequent statistical analysis of the results from these parallel single molecule multiplex PCR reactions results in reliable determination of haplotypes present in the subject. The nucleic acid markers can be of any distance to each other on the chromosome. In addition, an approach wherein overlapping DNA markers are analyzed can be used to link smaller haplotypes into larger haplotypes. Consequently, the invention provides a powerful new tool for diagnostic haplotyping and identifying novel haplotypes.

    Abstract translation: 本发明提供了高通量单倍型分析的有效方法。 可以通过多个平行的单分子稀释物中的单个核酸分子的多重PCR同时且可靠地测定几种多态性核酸添加标记，例如SNP，并且随后对这些平行单分子多重PCR反应的结果的统计分析导致可靠的测定 的单倍体存在于受试者。 核酸标记在染色体上可以彼此有任何距离。 此外，分析重叠的DNA标记物的方法可用于将较小的单倍型连接到较大的单元型中。 因此，本发明为诊断单倍型和鉴定新型单体型提供了强大的新工具。

    Marker for prenatal diagnosis and monitoring
    33.
    发明申请
    Marker for prenatal diagnosis and monitoring 有权
    产前诊断和监测的标记

    公开(公告)号：US20060019278A1

    公开(公告)日：2006-01-26

    申请号：US11144951

    申请日：2005-06-03

    Applicant: Yuk Ming Lo ,  Rossa Chiu ,  Stephen Chim ,  Yu-kwan Tong ,  Chunming Ding

    Inventor： Yuk Ming Lo ,  Rossa Chiu ,  Stephen Chim ,  Yu-kwan Tong ,  Chunming Ding

    IPC: C12Q1/68

    CPC classification number: C12Q1/6883 ,  C12Q1/6827 ,  C12Q2600/154 ,  C12Q2600/156 ,  C12Q2521/331

    Abstract: 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.

    Abstract translation: 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。

    METHOD FOR DETECTING AND QUANTIFYING RARE MUTATIONS/POLYMORPHISMS
    34.
    发明申请
    METHOD FOR DETECTING AND QUANTIFYING RARE MUTATIONS/POLYMORPHISMS 有权
    检测和量化稀有突变/多态性的方法

    公开(公告)号：US20120156685A1

    公开(公告)日：2012-06-21

    申请号：US13412984

    申请日：2012-03-06

    Applicant: Charles R Cantor ,  Chunming Ding

    Inventor： Charles R Cantor ,  Chunming Ding

    IPC: G01N27/62

    CPC classification number: C12Q1/6827 ,  C12Q2600/156 ,  C12Q2525/186 ,  C12Q2535/125 ,  C12Q2565/627 ,  C12Q2545/101

    Abstract: The present invention is directed to a method for detecting and quantifying rare mutations in a nucleic acid sample. The nucleic acid molecules under investigation can be either DNA or RNA. The rare mutation can be any type of functional or non-functional nucleic acid change or mutation, such as deletion, insertion, translocation, inversion, one or more base substitution or polymorphism. Therefore, the methods of the present invention are useful in detection of rare mutations in, for example, diagnostic, prognostic and follow-up applications, when the targets are rare known nucleic acid variants mixed in with the wildtype or the more common nucleic acid variant(s).

    Abstract translation: 本发明涉及一种用于检测和定量核酸样品中罕见突变的方法。 正在研究的核酸分子可以是DNA或RNA。 罕见突变可以是任何类型的功能或非功能性核酸变化或突变，例如缺失，插入，易位，反转，一个或多个碱基取代或多态性。 因此，当目标是罕见的已知的与野生型或更常见的核酸变体混合的核酸变体时，本发明的方法可用于检测例如诊断，预后和随访应用中的罕见突变 （s）。

    Quantification of gene expression
    35.
    发明授权
    Quantification of gene expression 有权
    基因表达量化

    公开(公告)号：US08034567B2

    公开(公告)日：2011-10-11

    申请号：US10655762

    申请日：2003-09-05

    Applicant: Charles R. Cantor ,  Chunming Ding

    Inventor： Charles R. Cantor ,  Chunming Ding

    IPC: C12Q1/68 ,  C12P19/34 ,  H01J49/00 ,  H01J49/40

    CPC classification number: C12Q1/6851 ,  C12Q2545/107 ,  C12Q2535/125 ,  C12Q2525/186

    Abstract: The present invention relates to a method for measuring the amount of a target nucleic acid in a sample using a standard which is designed to have one base difference compared with the gene of interest or a “target nucleic acid sequence.” Use of such standard in combination with a method of “enhancing” the difference in the standard and the test nucleic acid sample using, for example, a base extension reaction carried right at the mutation site allowing amplification of the standard and target nucleic acids with the same efficiency and facilitating quantification of the target nucleic acid. Thereafter a means of quantifying the “enhanced” standard and target nucleic acid samples is used to determine the amount of the target nucleic acid. In the preferred embodiment, the quantification means is Mass Spectrometry.

    Abstract translation: 本发明涉及使用与目的基因相比具有一个碱基差异的标准或“靶核酸序列”来测量样品中靶核酸量的方法。使用这种标准物 结合使用例如在突变位点上携带的碱基延伸反应来“提高”标准差和测试核酸样品的方法，允许以相同的效率扩增标准品和靶核酸并促进定量 的靶核酸。 此后，使用定量“增强”标准和靶核酸样品的手段来确定靶核酸的量。 在优选实施方案中，定量方法是质谱法。

    Haplotype Analysis
    37.
    发明申请
    Haplotype Analysis 有权
    单倍型分析

    公开(公告)号：US20100184075A1

    公开(公告)日：2010-07-22

    申请号：US12704043

    申请日：2010-02-11

    Applicant: Charles R. Cantor ,  Chunming Ding

    Inventor： Charles R. Cantor ,  Chunming Ding

    IPC: C12Q1/68

    CPC classification number: C12Q1/6827 ,  C12Q1/6858 ,  C12Q2600/156 ,  C12Q2527/137 ,  C12Q2537/143 ,  C12Q2565/627

    Abstract: The present invention provides an efficient way for high throughput haplotype analysis. Several polymorphic nucleic acid markers, such as SNPs, can be simultaneously and reliably determined through multiplex PCR of single nucleic acid molecules in several parallel single molecule dilutions and the consequent statistical analysis of the results from these parallel single molecule multiplex PCR reactions results in reliable determination of haplotypes present in the subject. The nucleic acid markers can be of any distance to each other on the chromosome. In addition, an approach wherein overlapping DNA markers are analyzed can be used to link smaller haplotypes into larger haplotypes. Consequently, the invention provides a powerful new tool for diagnostic haplotyping and identifying novel haplotypes.

    Abstract translation: 本发明提供了高通量单倍型分析的有效方法。 可以通过多个平行的单分子稀释物中的单个核酸分子的多重PCR来同时并可靠地测定几种多态性核酸标记，例如SNP，并且随后对来自这些平行的单分子多重PCR反应的结果的统计分析导致可靠的测定 的单倍体存在于受试者。 核酸标记在染色体上可以彼此有任何距离。 此外，分析重叠的DNA标记物的方法可用于将较小的单倍型连接到较大的单元型中。 因此，本发明为诊断单倍型和鉴定新型单体型提供了强大的新工具。

    Haplotype analysis
    38.
    发明授权
    Haplotype analysis 有权
    单倍型分析

    公开(公告)号：US07700325B2

    公开(公告)日：2010-04-20

    申请号：US10542043

    申请日：2004-01-16

    Applicant: Charles R Cantor ,  Chunming Ding

    Inventor： Charles R Cantor ,  Chunming Ding

    IPC: C12P19/34 ,  C12Q1/68 ,  C07H21/02

    CPC classification number: C12Q1/6827 ,  C12Q1/6858 ,  C12Q2600/156 ,  C12Q2527/137 ,  C12Q2537/143 ,  C12Q2565/627

    Abstract: The present invention provides an efficient way for high throughput haplotype analysis. Several polymorphic nucleic acid markers, such as SNPs, can be simultaneously and reliably determined through multiplex PCR of single nucleic acid molecules in several parallel single molecule dilutions and the consequent statistical analysis of the results from these parallel single molecule multiplex PCR reactions results in reliable determination of haplotypes present in the subject. The nucleic acid markers can be of any distance to each other on the chromosome. In addition, an approach wherein overlapping DNA markers are analyzed can be used to link smaller haplotypes into larger haplotypes. Consequently, the invention provides a powerful new tool for diagnostic haplotyping and identifying novel haplotypes.

    Abstract translation: 本发明提供了高通量单倍型分析的有效方法。 可以通过多个平行的单分子稀释物中的单个核酸分子的多重PCR来同时并可靠地测定几种多态性核酸标记，例如SNP，并且随后对来自这些平行的单分子多重PCR反应的结果的统计分析导致可靠的测定 的单倍体存在于受试者。 核酸标记在染色体上可以彼此有任何距离。 此外，分析重叠的DNA标记物的方法可用于将较小的单倍型连接到较大的单元型中。 因此，本发明为诊断单倍型和鉴定新型单体型提供了强大的新工具。

    Fetal methylation markers
    40.
    发明申请
    Fetal methylation markers 有权
    胎儿甲基化标记

    公开(公告)号：US20090155776A1

    公开(公告)日：2009-06-18

    申请号：US11784501

    申请日：2007-04-06

    Applicant: 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

    Inventor： 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: C12Q1/68

    CPC classification number: C12Q1/68 ,  C12Q1/6876 ,  C12Q1/6883 ,  C12Q2600/154 ,  C12Q2600/156

    Abstract: 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.

    Abstract translation: 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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