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    NONINVASIVE PRENATAL GENOTYPING OF FETAL SEX CHROMOSOMES
    1.
    发明申请
    NONINVASIVE PRENATAL GENOTYPING OF FETAL SEX CHROMOSOMES 审中-公开
    阴性染色体的非侵入性预测基因

    公开(公告)号：US20140019064A1

    公开(公告)日：2014-01-16

    申请号：US13978358

    申请日：2012-01-05

    申请人： Yuk Ming Dennis Lo ,  Wai kwun Rossa Chiu ,  Kwan Chee Chan ,  Bo Yin Tsui

    发明人： Yuk Ming Dennis Lo ,  Wai kwun Rossa Chiu ,  Kwan Chee Chan ,  Bo Yin Tsui

    IPC分类号： G06F19/18

    CPC分类号： G06F19/18 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158

    摘要： Methods, apparatuses, and system are provided for analyzing a maternal sample to determine whether a male fetus of a pregnant female has inherited an X-linked mutation from the mother. A percentage of fetal DNA in the sample is obtained, and cutoff values for the two possibilities (fetus inherits mutant or normal allele) are determined. A proportion of mutant alleles relative to a normal allele on the X-chromosome can then be compared to the cutoff values to make a classification of which allele is inherited. Alternatively, a number of alleles from a target region on the X-chromosome can be compared to a number of alleles from a reference region on the X-chromosome to identify a deletion or amplification. The fetal DNA percentage can be computed by counting reactions with a fetal-specific allele, and correcting the number to account for a statistical distribution among the reactions.

    摘要翻译： 提供方法，装置和系统用于分析母体样品以确定怀孕女性的雄性胎儿是否从母亲遗传了X连锁突变。 获得样品中胎儿DNA的百分比，确定两种可能性（胎儿遗传突变体或正常等位基因）的临界值。 然后将相对于X染色体上的正常等位基因的突变体等位基因的一部分与截断值进行比较，以对哪个等位基因进行遗传分类。 或者，可以将来自X染色体上的目标区域的多个等位基因与来自X染色体上的参考区域的多个等位基因进行比较以鉴定缺失或扩增。 胎儿DNA百分比可以通过计数与胎儿特异性等位基因的反应来计算，并且校正数量以解释反应之间的统计分布。

    Methods for detecting DNA originating from different individuals
    2.
    发明授权
    Methods for detecting DNA originating from different individuals 有权
    检测来自不同个体的DNA的方法

    公开(公告)号：US08168382B2

    公开(公告)日：2012-05-01

    申请号：US12250480

    申请日：2008-10-13

    申请人： Yuk Ming Dennis Lo ,  Lit Man Poon

    发明人： Yuk Ming Dennis Lo ,  Lit Man Poon

    IPC分类号： C07H21/04 ,  C12Q1/68

    CPC分类号： C12Q1/6876 ,  C12Q2600/156

    摘要： In a first aspect, the present invention features methods for differentiating DNA species originating from different individuals in a biological sample. These methods may be used to differentiate or detect fetal DNA in a maternal sample or to differentiate DNA of an organ donor from DNA of an organ recipient. In preferred embodiments, the DNA species are differentiated by observing epigenetic differences in the DNA species such as differences in DNA methylation. In a second aspect, the present invention features methods of detecting genetic abnormalities in a fetus by detecting fetal DNA in a biological sample obtained from a mother. In a third aspect, the present invention features methods for differentiating DNA species originating from an organ donor from those of an organ recipient. In a fourth aspect, the present invention features kits for differentiating DNA species originating from different individuals in a biological sample.

    摘要翻译： 在第一方面，本发明的特征在于用于区分来自生物样品中不同个体的DNA物种的方法。 这些方法可用于区分或检测母体样品中的胎儿DNA，或将器官供体的DNA与器官受体的DNA区分开来。 在优选的实施方案中，DNA物种通过观察DNA物种的表观遗传学差异来区分，例如DNA甲基化的差异。 在第二方面，本发明的特征在于通过从母体获得的生物样品中检测胎儿DNA来检测胎儿遗传异常的方法。 在第三方面，本发明的特征在于用于区分源自器官供体的DNA物种与器官受体的DNA物种的方法。 在第四方面，本发明提供用于分化来自生物样品中不同个体的DNA种类的试剂盒。

    DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING MASSIVELY PARALLEL GENOMIC SEQUENCING
    3.
    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
    4.
    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
    7.
    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。

    METHODS FOR DETECTING DNA ORIGINATING FROM DIFFERENT INDIVIDUALS
    9.
    发明申请
    METHODS FOR DETECTING DNA ORIGINATING FROM DIFFERENT INDIVIDUALS 有权
    检测来自不同个体的DNA的方法

    公开(公告)号：US20090170102A1

    公开(公告)日：2009-07-02

    申请号：US12250480

    申请日：2008-10-13

    申请人： Yuk Ming Dennis LO ,  Lit Man Poon

    发明人： Yuk Ming Dennis LO ,  Lit Man Poon

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6876 ,  C12Q2600/156

    摘要： In a first aspect, the present invention features methods for differentiating DNA species originating from different individuals in a biological sample. These methods may be used to differentiate or detect fetal DNA in a maternal sample or to differentiate DNA of an organ donor from DNA of an organ recipient. In preferred embodiments, the DNA species are differentiated by observing epigenetic differences in the DNA species such as differences in DNA methylation. In a second aspect, the present invention features methods of detecting genetic abnormalities in a fetus by detecting fetal DNA in a biological sample obtained from a mother. In a third aspect, the present invention features methods for differentiating DNA species originating from an organ donor from those of an organ recipient. In a fourth aspect, the present invention features kits for differentiating DNA species originating from different individuals in a biological sample.

    摘要翻译： 在第一方面，本发明的特征在于用于区分来自生物样品中不同个体的DNA物种的方法。 这些方法可以用于区分或检测母体样品中的胎儿DNA，或者将器官供体的DNA与器官受体的DNA区分开来。 在优选的实施方案中，DNA物种通过观察DNA物种的表观遗传学差异来区分，例如DNA甲基化的差异。 在第二方面，本发明的特征在于通过从母体获得的生物样品中检测胎儿DNA来检测胎儿遗传异常的方法。 在第三方面，本发明的特征在于用于区分源自器官供体的DNA物种与器官受体的DNA物种的方法。 在第四方面，本发明提供用于分化来自生物样品中不同个体的DNA种类的试剂盒。

    Circulating mRNA as diagnostic markers
    10.
    发明申请
    Circulating mRNA as diagnostic markers 有权
    循环mRNA作为诊断标记

    公开(公告)号：US20090162842A1

    公开(公告)日：2009-06-25

    申请号：US11807258

    申请日：2007-05-24

    申请人： Yuk-Ming Dennis Lo ,  Kai On Ng ,  Bo Yin Tsui ,  Wai Kwun Chiu

    发明人： Yuk-Ming Dennis Lo ,  Kai On Ng ,  Bo Yin Tsui ,  Wai Kwun Chiu

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158

    摘要： Methods and kits are provided for diagnosing, monitoring, or predicting the conditions of pre-eclampsia, fetal chromosomal aneuploidy, and pre-term labor in a pregnant woman, as well as for detecting pregnancy in a woman, by quantitatively measuring in the maternal blood the amount of one or more mRNA species encoding human chorionic gonadotropin β subunit (hCG-β), human placental lactogen (hPL), human corticotropin releasing hormone (hCRH), KiSS-1 metastasis-suppressor (KISS1), tissue factor pathway inhibitor 2 (TPFI2), placenta-specific 1 (PLAC1), or glyceraldehyde-3-phosphate dehydrogenase (GAPDH), and comparing the amount of the mRNA species with a standard control.

    摘要翻译： 提供方法和试剂盒，用于诊断，监测或预测孕妇的先兆子痫，胎儿染色体非整倍性和早产儿的状况，以及孕妇检测怀孕情况，通过定量测量母体血液 编码人绒毛膜促性腺激素β亚基（hCG-β），人胎盘乳腺癌（hPL），促皮质激素释放激素（hCRH），KiSS-1转移抑制因子（KISS1），组织因子途径抑制剂2 （TPFI2），胎盘特异性1（PLAC1）或甘油醛-3-磷酸脱氢酶（GAPDH），并将mRNA种类的量与标准对照进行比较。