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    Analysis for Nucleic Acids by Digital PCR
    4.
    发明申请
    Analysis for Nucleic Acids by Digital PCR 有权
    通过数字PCR分析核酸

    公开(公告)号：US20110183330A1

    公开(公告)日：2011-07-28

    申请号：US12914082

    申请日：2010-10-28

    申请人： Yuk Ming Dennis LO ,  Rossa Wai Kwun Chiu

    发明人： Yuk Ming Dennis LO ,  Rossa Wai Kwun Chiu

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6851 ,  C12Q2527/107 ,  C12Q2563/159 ,  C12Q2565/629

    摘要： The present invention provides a method for analyzing nucleic acids for their lengths and relative abundance in a sample, based on digital amplification of individual template molecules. This invention has many applications, including those in noninvasive prenatal diagnosis, transplantation monitoring, and the detection and monitoring of cancers and virus-associated diseases.

    摘要翻译： 本发明提供了一种基于个体模板分子的数字扩增来分析样品中核酸长度和相对丰度的方法。 本发明有许多应用，包括无创产前诊断，移植监测以及癌症和病毒相关疾病的检测和监测。

    DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING MASSIVELY PARALLEL GENOMIC SEQUENCING
    6.
    发明申请
    DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING MASSIVELY PARALLEL GENOMIC SEQUENCING 审中-公开
    使用大规模并行基因测序诊断子宫颈染色体异常

    公开(公告)号：US20120003635A1

    公开(公告)日：2012-01-05

    申请号：US13070240

    申请日：2011-03-23

    申请人： Yuk-Ming Dennis Lo ,  Rossa Wai Kwun Chiu ,  Kwan Chee Chan

    发明人： Yuk-Ming Dennis Lo ,  Rossa Wai Kwun Chiu ,  Kwan Chee Chan

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6886 ,  C12Q1/6809 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  G16B20/00 ,  G16B30/00 ,  C12Q2537/16

    摘要： Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. The determination of the relative amounts may count sequences of only certain length. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists. Prior to sequencing, the biological sample may be enriched for DNA fragments of a particular sizes.

    摘要翻译： 本发明的实施方案提供了用于确定从怀孕女性获得的生物样品中是否存在胎儿染色体非整倍性的方法，系统和装置。 对生物样品的核酸分子进行测序，使得对基因组的一部分进行测序。 根据测序结果确定相应量的临床相关染色体和背景染色体。 相对量的确定可以计算一定长度的序列。 将来自这些量（例如比例）的参数与一个或多个截断值进行比较，从而确定是否存在胎儿染色体非整倍性的分类。 在测序之前，生物样品可以富集特定大小的DNA片段。

    NEW FETAL METHYLATION MARKERS
    7.
    发明申请
    NEW FETAL METHYLATION MARKERS 有权
    新型甲基化标记

    公开(公告)号：US20110143342A1

    公开(公告)日：2011-06-16

    申请号：US12791776

    申请日：2010-06-01

    申请人： 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

    发明人： 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, 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.

    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（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。

    Fetal methylation markers
    9.
    发明授权
    Fetal methylation markers 有权
    胎儿甲基化标记

    公开(公告)号：US07754428B2

    公开(公告)日：2010-07-13

    申请号：US11784501

    申请日：2007-04-06

    申请人： 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

    发明人： 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分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02 ,  C07H21/04

    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, 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.

    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（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。