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    Method for non-invasive prenatal diagnosis
    1.
    发明申请
    Method for non-invasive prenatal diagnosis 审中-公开
    非侵入性产前诊断方法

    公开(公告)号：US20070207466A1

    公开(公告)日：2007-09-06

    申请号：US11364294

    申请日：2006-02-28

    Applicant: Charles Cantor ,  Chunming Ding ,  Yuk Lo ,  Rossa Chiu

    Inventor： Charles Cantor ,  Chunming Ding ,  Yuk Lo ,  Rossa Chiu

    IPC: C12Q1/68

    CPC classification number: C12Q1/6881 ,  C12Q1/6872 ,  C12Q2600/156 ,  C12Q2600/172 ,  C12Q2535/125

    Abstract: 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.

    Abstract translation: 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。

    Methods for prenatal diagnosis of chromosomal abnormalities
    4.
    发明申请
    Methods for prenatal diagnosis of chromosomal abnormalities 有权
    产前诊断染色体异常的方法

    公开(公告)号：US20070059707A1

    公开(公告)日：2007-03-15

    申请号：US10575119

    申请日：2004-10-08

    Applicant: Charles Cantor ,  Chunming Ding

    Inventor： Charles Cantor ,  Chunming Ding

    IPC: C12Q1/68 ,  C12P19/34

    CPC classification number: C12Q1/6883 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/6876 ,  C12Q2600/154 ,  C12Q2600/156 ,  C12Q2600/166 ,  C12Q2521/331

    Abstract: 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.

    Abstract translation: 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体和相关疾病，例如唐氏和特纳综合征。

    Haplotype analysis
    5.
    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。

    Multiflavor streptavidin
    7.
    发明授权
    Multiflavor streptavidin 失效
    多重链霉抗生物素蛋白

    公开(公告)号：US06368813B1

    公开(公告)日：2002-04-09

    申请号：US09381430

    申请日：2000-03-23

    Applicant: Gabriel O. Reznik ,  Takeshi Sano ,  Sandor Vajda ,  Cassandra Smith ,  Charles Cantor

    Inventor： Gabriel O. Reznik ,  Takeshi Sano ,  Sandor Vajda ,  Cassandra Smith ,  Charles Cantor

    IPC: G01N3353

    CPC classification number: C07K14/36

    Abstract: Compounds and methods are described for producing streptavidin mutants with changed affinities. In particular, modifications to the sequence of the natural streptavidin gene is described to create amino acid substitutions resulting in greater affinity for biotin substitutes than for biotin.

    Abstract translation: 描述了用于生产具有改变的亲和力的链霉抗生物素蛋白突变体的化合物和方法。 特别地，描述了对天然链霉亲和素基因的序列的修饰以产生氨基酸取代，导致对生物素替代物的亲和力高于生物素。

    Solid phase sequencing of biopolymers
    8.
    发明授权
    Solid phase sequencing of biopolymers 有权
    生物聚合物的固相测序

    公开(公告)号：US07803529B1

    公开(公告)日：2010-09-28

    申请号：US09395409

    申请日：1999-09-14

    Applicant: Charles Cantor ,  Hubert Köster

    Inventor： Charles Cantor ,  Hubert Köster

    IPC: C12Q1/68

    CPC classification number: C12Q1/6872 ,  C12Q1/6874 ,  C12Q2565/501 ,  C12Q2531/113 ,  C12Q2521/525 ,  C12Q2565/627 ,  C12Q2531/119 ,  C12Q2523/301 ,  C12Q2531/137 ,  C12Q2521/301 ,  C12Q2531/149

    Abstract: This invention relates to methods for detecting and sequencing target nucleic acid sequences, to mass modified nucleic acid probes and arrays of probes useful in these methods, and to kits and systems which contain these probes. Useful methods involve hybridizing the nucleic acids or nucleic acids which represent complementary or homologous sequences of the target to an array of nucleic acid probes. These probes comprise a single-stranded portion, an optional double-stranded portion and a variable sequence within the single-stranded portion. The molecular weights of the hybridized nucleic acids of the set can be determined by mass spectroscopy, and the sequence of the target determined from the molecular weights of the fragments. Nucleic acids whose sequences can be determined include DNA or RNA in biological samples such as patient biopsies and environmental samples. Probes may be fixed to a solid support such as a hybridization chip to facilitate automated molecular weight analysis and identification of the target sequence.

    Abstract translation: 本发明涉及用于检测和测序靶核酸序列，批量修饰的核酸探针和可用于这些方法的探针阵列的方法，以及含有这些探针的试剂盒和系统。 有用的方法包括将代表靶的互补或同源序列的核酸或核酸与核酸探针阵列进行杂交。 这些探针包括在单链部分内的单链部分，任选的双链部分和可变序列。 该组的杂交核酸的分子量可以通过质谱法测定，并且靶标的序列由片段的分子量确定。 可以确定其序列的核酸包括生物样品中的DNA或RNA，例如患者活组织检查和环境样品。 探针可以固定在固体支持物例如杂交芯片上以促进自动化分子量分析和靶序列的鉴定。

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