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1. 发明申请

WO2005035725A3 METHODS FOR PRENATAL DIAGNOSIS OF CHROMOSOMAL ABNORMALITIES 审中-公开
标题翻译：用于临床诊断染色体异常的方法
公开(公告)号：WO2005035725A3
公开(公告)日：2006-06-29
申请号：PCT/US2004033175
申请日：2004-10-08
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6876 , C12Q2600/154 , C12Q2600/156 , C12Q2600/166 , C12Q2521/331
摘要： Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.
摘要翻译：染色体异常负责大量的出生缺陷，包括精神发育迟滞。本发明涉及基于母体血液样品分析的非侵入性和快速，产前诊断染色体异常的方法。本发明利用母体和胎儿之间的DNA差异，例如甲基化状态的差异，作为富集母体血浆样品中胎儿DNA的手段。本文描述的方法可用于检测染色体DNA缺失和重复。在优选的实施方案中，所述方法用于诊断染色体非整倍性和相关疾病，例如唐氏和特纳氏综合征。

2. 发明申请

WO2004065617A3 HAPLOTYPE ANALYSIS 审中-公开
标题翻译： HAPLOTYPE分析
公开(公告)号：WO2004065617A3
公开(公告)日：2006-06-15
申请号：PCT/US2004001329
申请日：2004-01-16
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q2600/156 , C12Q2527/137 , C12Q2537/143 , C12Q2565/627
摘要： 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.
摘要翻译：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。

3. 发明申请

WO2006019407A3 METHOD FOR DETECTING AND QUANTIFYING RARE MUTATIONS/POLYMORPHISMS 审中-公开
标题翻译：检测和量化稀有突变/多态性的方法
公开(公告)号：WO2006019407A3
公开(公告)日：2006-07-06
申请号：PCT/US2005005255
申请日：2005-02-18
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6827 , C12Q2600/156 , C12Q2525/186 , C12Q2535/125 , C12Q2565/627 , C12Q2545/101
摘要： 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).
摘要翻译：本发明涉及用于检测和定量核酸样品中罕见突变的方法。所研究的核酸分子可以是DNA或RNA。该罕见突变可以是任何类型的功能性或非功能性核酸改变或突变，例如缺失，插入，易位，倒位，一个或多个碱基取代或多态性。因此，当靶是稀有已知的核酸变体与野生型或更常见的核酸变体混合时，本发明的方法可用于检测例如诊断，预后和后续应用中的罕见突变（S）。

4. 发明申请

WO2005023091A3 METHOD FOR NON-INVASIVE PRENATAL DIAGNOSIS 审中-公开
标题翻译：无创性早期诊断方法
公开(公告)号：WO2005023091A3
公开(公告)日：2005-06-16
申请号：PCT/US2004028857
申请日：2004-09-07
申请人： UNIV BOSTON , UNIV HONG KONG CHINESE , CANTOR CHARLES R , DING CHUNMING , LO YUK MING DENNIS , CHIU ROSSA WAI-KWUN
发明人： CANTOR CHARLES R , DING CHUNMING , LO YUK MING DENNIS , CHIU ROSSA WAI-KWUN
IPC分类号： A61B20060101 , C07H21/04 , C12Q1/68
CPC分类号： C12Q1/6881 , C12Q1/6872 , C12Q2600/156 , C12Q2600/172 , C12Q2535/125
摘要： The present invention is directed to methods of detecting nucleic acids in a biological sample. The method is based on a novel combination of a base extension reaction, which provides excellent analytical specificity, and a mass spectrometric analysis, which provides excellent specificity. The method can be used, for example, for diagnostic, prognostic and treatment purposes. The method can be used, for example, for diagnostic, prognostic and treatment purposes. The method allows accurate detection of nucleic acids that are present in very small amounts in a biological sample. For example, the method of the present invention is preferably used to detect fetal nucleic acid in maternal blood sample; circulating tumor-specific nucleic acids in a blood, urine or stool sample; and donor-specific acids in transplant recipients. In another embodiment, one can detect viral, bacterial, fungal, or other foreign nucleic acids in biological sample.
摘要翻译：本发明涉及检测生物样品中的核酸的方法。该方法基于提供优异分析特异性的碱基延伸反应和提供优异特异性的质谱分析的新型组合。该方法可以用于例如诊断，预后和治疗目的。该方法可以用于例如诊断，预后和治疗目的。该方法允许准确检测生物样品中存在的非常少量的核酸。例如，本发明的方法优选用于检测母体血液样品中的胎儿核酸; 在血液，尿液或粪便样品中循环肿瘤特异性核酸; 和移植受体中的供体特异性酸。在另一个实施方案中，可以检测生物样品中的病毒，细菌，真菌或其他外源核酸。

5. 发明申请

WO2004022721A3 QUANTIFICATION OF GENE EXPRESSION 审中-公开
标题翻译：量化基因表达
公开(公告)号：WO2004022721A3
公开(公告)日：2004-09-16
申请号：PCT/US0328081
申请日：2003-09-05
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： G01N33/50 , C12N20060101 , C12N15/09 , C12Q1/68
CPC分类号： C12Q1/6851 , C12Q2545/107 , C12Q2535/125 , C12Q2525/186
摘要： 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.
摘要翻译：本发明涉及使用被设计为与目标基因或“目标核酸序列”相比具有一个碱基差异的标准品来测量样品中目标核酸的量的方法。使用这样的标准与“增强”标准和测试核酸样品中差异的方法结合使用，例如，在突变位点正确携带的碱基延伸反应，允许标准和靶核酸与相同的效率并且便于靶核酸的定量。此后，使用量化“增强的”标准和靶核酸样品的手段来确定靶核酸的量。在优选实施例中，量化装置是质谱仪。

6. 发明申请

WO2005118852A3 A MARKER FOR PRENATAL DIAGNOSIS AND MONITORING 审中-公开
标题翻译：用于临床诊断和监测的标记
公开(公告)号：WO2005118852A3
公开(公告)日：2006-03-16
申请号：PCT/GB2005002211
申请日：2005-06-06
申请人： UNIV HONG KONG CHINESE , LO YUK MING DENNIS , CHIU ROSSA WAI KWUN , CHIM STEPHEN SIU CHUNG , TONG YU-KWAN , DING CHUNMING
发明人： LO YUK MING DENNIS , CHIU ROSSA WAI KWUN , CHIM STEPHEN SIU CHUNG , TONG YU-KWAN , DING CHUNMING
IPC分类号： C12Q1/68
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。

7. 发明申请

WO2008038000A8 DIAGNOSTIC METHOD FOR DETECTING OR MONITORING CANCER 审中-公开
标题翻译：用于检测或监测癌症的诊断方法
公开(公告)号：WO2008038000A8
公开(公告)日：2009-07-16
申请号：PCT/GB2007003674
申请日：2007-09-26
申请人： UNIV HONG KONG CHINESE , LO YUK MING DENNIS , CHAN KWAN CHEE ALLEN , DING CHUNMING
发明人： LO YUK MING DENNIS , CHAN KWAN CHEE ALLEN , DING CHUNMING
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/118 , C12Q2600/154
摘要： The present invention concerns a method for the detection or monitoring of cancer using a biological sample selected from blood, plasma, serum, saliva, urine from an individual, said method comprising: (a) obtaining DNA from the said biological sample; (b) digesting the DNA sample with one or more methylation-sensitive restriction enzymes; (c) quantifying or detecting a DNA sequence of interest after step (b), wherein the target sequence of interest contains at least two methylation-sensitive restriction enzyme recognition sites; and (d) comparing the level of the DNA sequence from the individual to a normal standard, to detect, prognosticate or monitor cancer.
摘要翻译：本发明涉及使用选自血液，血浆，血清，唾液，个体尿液的生物样品检测或监测癌症的方法，所述方法包括：（a）从所述生物样品中获得DNA; （b）用一种或多种甲基化敏感性限制酶消化DNA样品; （c）在步骤（b）之后量化或检测目标DNA序列，其中所述靶序列含有至少两个甲基化敏感性限制酶识别位点; 和（d）将来自个体的DNA序列的水平与正常标准进行比较，以检测，预测或监测癌症。

8. 发明申请

WO2007132167A3 NOVEL FETAL MARKERS FOR PRENATAL DIAGNOSIS AND MONITORING 审中-公开
标题翻译：用于临床诊断和监测的新型标记
公开(公告)号：WO2007132167A3
公开(公告)日：2008-05-22
申请号：PCT/GB2007001627
申请日：2007-05-03
申请人： UNIV HONG KONG CHINESE , LO YUK MING DENNIS , CHIU ROSSA WAI KWUN , CHIM STEPHEN SIU CHUNG , DING CHUNMING , JIN SHENGNAN , LEE TRACY YUEN HAN , LUN FIONA MIU FUN
发明人： LO YUK MING DENNIS , CHIU ROSSA WAI KWUN , CHIM STEPHEN SIU CHUNG , DING CHUNMING , JIN SHENGNAN , LEE TRACY YUEN HAN , LUN FIONA MIU FUN
IPC分类号： C12Q1/68
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。

9. 发明申请

WO2007132166A3 NEW FETAL METHYLATION MARKERS 审中-公开
标题翻译：新型甲基化标记
公开(公告)号：WO2007132166A3
公开(公告)日：2008-02-21
申请号：PCT/GB2007001625
申请日：2007-05-03
申请人： UNIV HONG KONG CHINESE , LO YUK MING DENNIS , CHIU ROSSA WAI KWUN , CHIM STEPHEN SIU CHUNG , DING CHUNMING , CHAN KWAN CHEE , WONG HING NAM IVY , YUEN KA CHUN RYAN
发明人： LO YUK MING DENNIS , CHIU ROSSA WAI KWUN , CHIM STEPHEN SIU CHUNG , DING CHUNMING , CHAN KWAN CHEE , WONG HING NAM IVY , YUEN KA CHUN RYAN
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, DAB21P, 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（例如RASSF1A，APC，CASP8，RARB，SCGB3A1，DAB21P，PTPN6，THY1，TMEFF2和PYCARD）是高度甲基化的，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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