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    Non-invasive fetal genetic screening by digital analysis
    32.
    发明申请
    Non-invasive fetal genetic screening by digital analysis 有权
    通过数字分析进行非侵入性胎儿遗传筛选

    公开(公告)号：US20070202525A1

    公开(公告)日：2007-08-30

    申请号：US11701686

    申请日：2007-02-02

    Applicant: Stephen Quake ,  Hei-Mun Fan

    Inventor： Stephen Quake ,  Hei-Mun Fan

    IPC: C12Q1/68 ,  C12P19/34

    CPC classification number: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6851 ,  C12Q1/6858 ,  C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/158 ,  Y10T436/143333 ,  C12Q2565/629 ,  C12Q2537/143 ,  C12Q2531/113 ,  C12Q2537/157 ,  C12Q2527/125 ,  C12Q2545/114 ,  C12Q2527/137

    Abstract: The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

    Abstract translation: 本方法的例子是一种方法，其中将含有胎儿DNA的母体血液稀释成每反应样品约0.5个基因组当量DNA的标称值。 然后使用数字PCR来检测非整倍体，例如导致唐氏综合征的三体性。 由于非整倍体并不表现出序列变异，仅仅是染色体数量的变化，所以不可能在胎儿中检测它们，而不需要采用诸如羊膜穿刺或绒毛膜绒毛取样等侵入性技术。 数字扩增允许使用大规模并行扩增和检测方法检测非整倍体，检查例如10,000个基因组等同物。

    Methods and kits for analyzing polynucleotide sequences
    34.
    发明申请
    Methods and kits for analyzing polynucleotide sequences 有权
    用于分析多核苷酸序列的方法和试剂盒

    公开(公告)号：US20060019267A1

    公开(公告)日：2006-01-26

    申请号：US11054243

    申请日：2005-02-09

    Applicant: Stephen Quake

    Inventor： Stephen Quake

    IPC: C12Q1/68 ,  C12P19/34

    CPC classification number: C12Q1/68 ,  C12Q1/6869 ,  C12Q2561/113 ,  C12Q2533/101 ,  C12Q2565/507

    Abstract: The present invention features methods for analyzing a sequence of a target polynucleotide by detecting incorporation of a nucleotide into its complementary strand, where the polynucleotides may be bound at high density and at single molecule resolution. The invention also features labeling moieties and blocking moieties, which facilitate chain termination or choking. Certain aspects provide for temporal detection of the incorporations; some allow for asynchronous analysis of a plurality of target polynucleotides and the use of short sequencing cycles. Surface chemistry aspects of the sequencing methods are also provided. The method may also be used in kits, said kits designed to carry out and facilitate the methods provided herein.

    Abstract translation: 本发明的特征在于通过检测将核苷酸掺入其互补链中来分析靶多核苷酸的序列的方法，其中多核苷酸可以以高密度和单分子分辨率结合。 本发明还具有标记部分和阻断部分，其有助于链终止或阻塞。 某些方面提供了公司的时间检测; 一些允许多个靶多核苷酸的异步分析和使用短的测序循环。 还提供了测序方法的表面化学方面。 该方法也可用于试剂盒中，所述试剂盒旨在实现和促进本文提供的方法。

    Methods and kits for analyzing polynucleotide sequences
    40.
    发明授权
    Methods and kits for analyzing polynucleotide sequences 有权
    用于分析多核苷酸序列的方法和试剂盒

    公开(公告)号：US07981604B2

    公开(公告)日：2011-07-19

    申请号：US11054243

    申请日：2005-02-09

    Applicant: Stephen Quake

    Inventor： Stephen Quake

    IPC: C12Q1/68 ,  C07H21/02 ,  C07H21/04

    CPC classification number: C12Q1/68 ,  C12Q1/6869 ,  C12Q2561/113 ,  C12Q2533/101 ,  C12Q2565/507

    Abstract: The present invention features methods for analyzing a sequence of a target polynucleotide by detecting incorporation of a nucleotide into its complementary strand, where the polynucleotides may be bound at high density and at single molecule resolution. The invention also features labeling moieties and blocking moieties, which facilitate chain termination or choking. Certain aspects provide for temporal detection of the incorporations; some allow for asynchronous analysis of a plurality of target polynucleotides and the use of short sequencing cycles. Surface chemistry aspects of the sequencing methods are also provided. The method may also be used in kits, said kits designed to carry out and facilitate the methods provided herein.

    Abstract translation: 本发明的特征在于通过检测将核苷酸掺入其互补链中来分析靶多核苷酸的序列的方法，其中多核苷酸可以以高密度和单分子分辨率结合。 本发明还具有标记部分和阻断部分，其有助于链终止或阻塞。 某些方面提供了公司的时间检测; 一些允许多个靶多核苷酸的异步分析和使用短的测序循环。 还提供了测序方法的表面化学方面。 该方法也可用于试剂盒中，所述试剂盒旨在实现和促进本文提供的方法。

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