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    • 1. 发明申请
    • Method for non-invasive prenatal diagnosis
    • 非侵入性产前诊断方法
    • US20070207466A1
    • 2007-09-06
    • US11364294
    • 2006-02-28
    • Charles CantorChunming DingYuk LoRossa Chiu
    • Charles CantorChunming DingYuk LoRossa Chiu
    • C12Q1/68
    • C12Q1/6881C12Q1/6872C12Q2600/156C12Q2600/172C12Q2535/125
    • 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 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 a maternal blood sample; circulating tumor-specific nucleic acids in a blood, urine or stool sample; and donor-specific nucleic acids in transplant recipients. In another embodiment, one can detect viral, bacterial, fungal, or other foreign nucleic acids in a biological sample.
    • 本发明涉及检测生物样品中核酸的方法。 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。 该方法可用于例如诊断,预后和治疗目的。 该方法允许精确检测在生物样品中以非常少的量存在的核酸。 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; 和供体特异性核酸。 在另一个实施方案中,可以检测生物样品中的病毒,细菌,真菌或其它外来核酸。
    • 7. 发明申请
    • Haplotype analysis
    • 单倍型分析
    • US20070122805A1
    • 2007-05-31
    • US10542043
    • 2004-01-16
    • Charles CantorChunming Ding
    • Charles CantorChunming Ding
    • C12Q1/68C12P19/34
    • C12Q1/6827C12Q1/6858C12Q2600/156C12Q2527/137C12Q2537/143C12Q2565/627
    • 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.
    • 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。