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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。
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公开(公告)号：US20100311046A1
公开(公告)日：2010-12-09
申请号：US12619619
申请日：2009-11-16
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6881 , C12Q1/6851 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2545/101
摘要： The non-invasive detection of fetal chromosomal aneuploidies is demonstrated. Alleles of fetal RNA-SNPs present in a biological sample (e.g. maternal blood) containing fetal RNA are detected and quantified in order to determine the ratio of the alleles. This ratio is compared to a standard control consisting of euploid fetuses. Deviation of allele ratio indicates the presence of chromosomal aneuploidy.
摘要翻译： 证明了胎儿染色体非整倍体的非侵入性检测。 检测并定量存在于含有胎儿RNA的生物样品（例如母体血液）中的胎儿RNA-SNP的等位基因，以确定等位基因的比例。 将该比率与由整倍体胎儿组成的标准对照进行比较。 等位基因比率的偏差表明存在染色体非整倍体。
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公开(公告)号：US07645576B2
公开(公告)日：2010-01-12
申请号：US11384128
申请日：2006-03-17
CPC分类号： C12Q1/6881 , C12Q1/6851 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2545/101
摘要： The non-invasive detection of fetal chromosomal aneuploidies is demonstrated. Alleles of fetal RNA-SNPs present in a biological sample (e.g. maternal blood) containing fetal RNA are detected and quantified in order to determine the ratio of the alleles. This ratio is compared to a standard control consisting of euploid fetuses. Deviation of allele ratio indicates the presence of chromosomal aneuploidy.
摘要翻译： 证明了胎儿染色体非整倍体的非侵入性检测。 检测并定量存在于含有胎儿RNA的生物样品（例如母体血液）中的胎儿RNA-SNP的等位基因，以确定等位基因的比例。 将该比率与由整倍体胎儿组成的标准对照进行比较。 等位基因比率的偏差表明存在染色体非整倍体。
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4.发明申请Methods for Evaluating a Disease Condition by Nucleic Acid Detection and Fractionation 审中-公开通过核酸检测和分馏评价疾病状态的方法公开(公告)号：US20110086357A1
公开(公告)日：2011-04-14
申请号：US12941855
申请日：2010-11-08
申请人： Yuk Ming Dennis Lo , Kai On Ng , Bo Yin Tsui , Wai Kwun Rossa Chiu , Yuen Shan Lisa Chan , Timothy Hudson Rainer , Yuk Lan Lam
发明人： Yuk Ming Dennis Lo , Kai On Ng , Bo Yin Tsui , Wai Kwun Rossa Chiu , Yuen Shan Lisa Chan , Timothy Hudson Rainer , Yuk Lan Lam
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q1/6806 , C12Q1/6883 , C12Q2600/158 , C12Q2565/137
摘要： This invention relates to the discovery that both non-particle and particle associated nucleic acids are present in blood plasma and serum and can be used to evaluate disease conditions.
摘要翻译： 本发明涉及无血浆和血清中存在非颗粒和颗粒相关核酸的发现，可用于评估疾病状况。
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公开(公告)号：US07829285B2
公开(公告)日：2010-11-09
申请号：US11807258
申请日：2007-05-24
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的一种或多种mRNA种类的量; 亚单位（hCG-和bgr），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。
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公开(公告)号：US20080153090A1
公开(公告)日：2008-06-26
申请号：US11807253
申请日：2007-05-24
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-eclaimpsia, 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，监测或预测怀孕妇女的pre-eclaimpsia，胎儿染色体非整倍性和早产儿的状况，以及通过定量测量孕妇血液中的孕妇检测怀孕情况 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。
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公开(公告)号：US07235359B2
公开(公告)日：2007-06-26
申请号：US10759783
申请日：2004-01-16
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-eclaimpsia, 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，监测或预测怀孕妇女的pre-eclaimpsia，胎儿染色体非整倍性和早产儿的状况，以及通过定量测量孕妇血液中的孕妇检测怀孕情况 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。
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公开(公告)号：US20140019064A1
公开(公告)日：2014-01-16
申请号：US13978358
申请日：2012-01-05
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。
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公开(公告)号：US10152568B2
公开(公告)日：2018-12-11
申请号：US13978358
申请日：2012-01-05
IPC分类号： G06F19/18 , C12Q1/6883
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.
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