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1. 发明授权

US10900080B2 Molecular testing of multiple pregnancies 有权
公开(公告)号：US10900080B2
公开(公告)日：2021-01-26
申请号：US13405073
申请日：2012-02-24
申请人： Yuk Ming Dennis Lo , Wai Kwun Rossa Chu , Kwan Chee Chan , Tak Yeung Leung , Peiyong Jiang
发明人： Yuk Ming Dennis Lo , Wai Kwun Rossa Chu , Kwan Chee Chan , Tak Yeung Leung , Peiyong Jiang
IPC分类号： C12Q1/6881 , G16B40/00 , G16B20/00
摘要： Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.

2. 发明申请

US20130059733A1 MOLECULAR TESTING OF MULTIPLE PREGNANCIES 审中-公开
标题翻译：多种孕妇的分子检测
公开(公告)号：US20130059733A1
公开(公告)日：2013-03-07
申请号：US13405073
申请日：2012-02-24
申请人： Yuk Ming Dennis Lo , Wai Kwun Rossa Chu , Kwan Chee Chan , Tak Yeung Leung , Peiyong Jiang
发明人： Yuk Ming Dennis Lo , Wai Kwun Rossa Chu , Kwan Chee Chan , Tak Yeung Leung , Peiyong Jiang
IPC分类号： C12Q1/68 , C40B20/00 , G06F19/24 , C40B30/04
CPC分类号： C12Q1/6881 , C12Q2600/154 , C12Q2600/156 , C12Q2600/172 , G16B20/00 , G16B40/00
摘要： Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.
摘要翻译：提供了方法，系统和装置，用于使用从母亲取得的生物样品来确定多胎胎儿怀孕的接合性。可以分析样品中的胎儿和母体DNA（例如血浆）以获得特定的染色体区域，以鉴定胎儿中的遗传差异。例如，当胎儿分娩时，用于测量初级或次级等位基因的归一化参数可以显示不同染色体区域的方差。如果胎儿在遗传上相同，则可以相对于期望值确定这种变化。提供统计方法用于分析标准化参数的变化，以确定胎儿DNA浓度和各种基因座的母体 - 胎儿混合基因型。亲代基因型和单倍型信息也可用于鉴定不同亲代单倍型的遗传，以指示胎儿之间的遗传差异。

3. 发明授权

US08741811B2 Detection of genetic or molecular aberrations associated with cancer 有权
标题翻译：检测与癌症相关的遗传或分子畸变
公开(公告)号：US08741811B2
公开(公告)日：2014-06-03
申请号：US13308473
申请日：2011-11-30
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
IPC分类号： C40B30/02 , C12Q1/68 , G06F19/18
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6869 , C12Q1/6886 , C12Q2600/156 , C12Q2600/172 , G06F19/18 , C12Q2535/122 , C12Q2537/165 , C12Q2545/114
摘要： Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and/or amplifications in a tumor. Multiple loci are used for each chromosomal region. Such imbalances can then be used to diagnose (screen) a patient for cancer, as well as prognosticate a patient with cancer, or to detect the presence or to monitor the progress of a premalignant condition in a patient. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).
摘要翻译：分析包括无细胞DNA片段的生物样品，以鉴定染色体区域中的不平衡，例如由于肿瘤中的缺失和/或扩增。每个染色体区域使用多个基因座。然后可以将这种不平衡用于诊断（筛选）患者癌症，以及预测患有癌症的患者，或者检测病人的存在或监测恶化前状况的进展情况。可以使用不平衡的严重性以及表现出不平衡的区域的数量。对基因组的非重叠片段的系统分析可以为样品提供一般的筛选工具。此外，可以随时间测试患者以跟踪一个或多个染色体区域和多个染色体区域中的每一个的严重性，以使得能够进行筛选和预测，以及监测进展（例如，治疗后）。

4. 发明申请

US20130040824A1 DETECTION OF GENETIC OR MOLECULAR ABERRATIONS ASSOCIATED WITH CANCER 有权
标题翻译：检测与癌症相关的遗传或分子遗传异常
公开(公告)号：US20130040824A1
公开(公告)日：2013-02-14
申请号：US13308473
申请日：2011-11-30
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
IPC分类号： C40B20/00 , C12Q1/68 , G06F19/00 , C40B30/04
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6869 , C12Q1/6886 , C12Q2600/156 , C12Q2600/172 , G06F19/18 , C12Q2535/122 , C12Q2537/165 , C12Q2545/114
摘要： Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and/or amplifications in a tumor. Multiple loci are used for each chromosomal region. Such imbalances can then be used to diagnose (screen) a patient for cancer, as well as prognosticate a patient with cancer, or to detect the presence or to monitor the progress of a premalignant condition in a patient. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).
摘要翻译：分析包括无细胞DNA片段的生物样品，以鉴定染色体区域中的不平衡，例如由于肿瘤中的缺失和/或扩增。每个染色体区域使用多个基因座。然后可以将这种不平衡用于诊断（筛选）患者癌症，以及预测患有癌症的患者，或者检测病人的存在或监测恶化前状况的进展情况。可以使用不平衡的严重性以及表现出不平衡的区域的数量。对基因组的非重叠片段的系统分析可以为样品提供一般的筛选工具。此外，可以随时间测试患者以跟踪一个或多个染色体区域和多个染色体区域中的每一个的严重性，以使得能够进行筛选和预测，以及监测进展（例如，治疗后）。

5. 发明授权

US10152568B2 Noninvasive prenatal genotyping of fetal sex chromosomes 有权
公开(公告)号：US10152568B2
公开(公告)日：2018-12-11
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 , 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.

6. 发明授权

US08288100B2 Methods for detecting fetal DNA in a plasma or serum sample from a pregnant woman 有权
标题翻译：检测孕妇血浆或血清样品中胎儿DNA的方法
公开(公告)号：US08288100B2
公开(公告)日：2012-10-16
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 , 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。

7. 发明申请

US20140019064A1 NONINVASIVE PRENATAL GENOTYPING OF FETAL SEX CHROMOSOMES 审中-公开
标题翻译：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。

8. 发明申请

US20110143342A1 NEW FETAL METHYLATION MARKERS 有权
标题翻译：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。

9. 发明授权

US07754428B2 Fetal methylation markers 有权
标题翻译：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。

10. 发明授权

US08620593B2 Size-based genomic analysis 有权
标题翻译：基于大小的基因组分析
公开(公告)号：US08620593B2
公开(公告)日：2013-12-31
申请号：US12940992
申请日：2010-11-05
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Wenli Zheng
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Wenli Zheng
IPC分类号： G06F19/00 , G11C17/00 , C12Q1/68
CPC分类号： C12Q1/6809 , C12Q1/6883 , C12Q2600/112 , C12Q2600/156 , C12Q2600/172 , G06F19/18
摘要： Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at-risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.
摘要翻译：提供了用于执行序列不平衡的产前诊断的系统，方法和装置。在某些情况下，偏移（例如，到更小的分布）可以表示不平衡。例如，可以使用来自高危染色体的核酸片段的大小分布来确定胎儿染色体非整倍体。可以使用不同染色体的大小排序来从预期排名中确定危险染色体的等级的变化。而且，一个染色体的统计大小值之间的差异可以与另一个染色体的统计大小值进行比较，以确定大小的显着变化。也可以使用大小分布来确定胎儿的基因型和单倍型，以确定相对于母体的基因型或单倍型，母体样品中是否发生序列不平衡，从而提供胎儿的基因型或单倍型。

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