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公开(公告)号：US20100304978A1
公开(公告)日：2010-12-02
申请号：US12657723
申请日：2010-01-26
CPC分类号： C12Q1/6879 , C12Q1/6841 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16
摘要： The present invention provides methods and compositions for specifically identifying a fetal cell. An initial screening of approximately 400 candidate genes by digital PCR in different fetal and adult tissues identified a subset of 24 gene markers specific for fetal nucleated RBC and trophoblasts. The specific expression of those genes was further evaluated and verified in more defined tissues and isolated cells through quantitative RT-PCR using custom Taqman probes specific for each gene. A subset of fetal cell specific markers (FCM) was tested and validated by RNA fluorescent in situ hybridization (FISH) in blood samples from non-pregnant women, and pre-termination and post-termination pregnant women. Applications of these gene markers include, but are not limited to, distinguishing a fetal cell from a maternal cell for fetal cell identification and genetic diagnosis, identifying circulating fetal cell types in maternal blood, purifying or enriching one or more fetal cells, and enumerating one or more fetal cells during fetal cell enrichment.
摘要翻译： 本发明提供用于特异性鉴定胎儿细胞的方法和组合物。 通过数字PCR在不同的胎儿和成体组织中初步筛选约400个候选基因，鉴定了胎儿有核RBC和滋养细胞特异性的24个基因标记的子集。 通过使用特定于每个基因的定制的Taqman探针通过定量RT-PCR进一步评估和验证了在更确定的组织和分离的细胞中这些基因的特异性表达。 胎儿细胞特异性标志物（FCM）的子集在非孕妇血液样本和终止前和终止后的孕妇中通过RNA荧光原位杂交（FISH）进行测试和验证。 这些基因标记物的应用包括但不限于胎儿细胞区分胎儿细胞鉴定和遗传诊断的胎儿细胞，识别母体血液中的循环胎儿细胞类型，纯化或富集一个或多个胎儿细胞，并列举一个 胎儿细胞富集的胎儿细胞。
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2.发明授权公开(公告)号：US09493828B2
公开(公告)日：2016-11-15
申请号：US13461582
申请日：2012-05-01
申请人： Richard P. Rava , Yue-Jen Chuu , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Michael Hunkapiller
发明人： Richard P. Rava , Yue-Jen Chuu , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Michael Hunkapiller
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/6869 , C12Q1/6886 , C12Q2537/143 , C12Q2600/106 , C12Q2600/156 , C12Q2600/16 , G06F19/22 , C12Q2565/125 , C12Q2535/122
摘要： The invention provides compositions and methods for determining the fraction of fetal nucleic acids in a maternal sample comprising a mixture of fetal and maternal nucleic acids. The fraction of fetal nucleic acids can be used in determining the presence or absence of fetal aneuploidy.
摘要翻译： 本发明提供了用于确定包含胎儿和母体核酸混合物的母体样品中胎儿核酸分数的组合物和方法。 胎儿核酸的分数可以用于确定胎儿非整倍体的存在或不存在。
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公开(公告)号：US20120135872A1
公开(公告)日：2012-05-31
申请号：US13368035
申请日：2012-02-07
申请人： Yue-Jen Chuu , Richard P. Rava
发明人： Yue-Jen Chuu , Richard P. Rava
IPC分类号： C40B30/00
CPC分类号： C12Q1/6883 , C12Q1/6869 , C12Q2600/112 , C12Q2600/156 , C12Q2600/16
摘要： Methods and kits for selectively enriching non-random polynucleotide sequences are provided. Methods and kits for generating libraries of sequences are provided. Methods of using selectively enriched non-random polynucleotide sequences for detection of fetal aneuploidy are provided.
摘要翻译： 提供了用于选择性富集非随机多核苷酸序列的方法和试剂盒。 提供了用于产生序列文库的方法和试剂盒。 提供了使用选择性富集的非随机多核苷酸序列检测胎儿非整倍体的方法。
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公开(公告)号：US08318430B2
公开(公告)日：2012-11-27
申请号：US13368035
申请日：2012-02-07
申请人： Yue-Jen Chuu , Richard P. Rava
发明人： Yue-Jen Chuu , Richard P. Rava
CPC分类号： C12Q1/6883 , C12Q1/6869 , C12Q2600/112 , C12Q2600/156 , C12Q2600/16
摘要： Methods and kits for selectively enriching non-random polynucleotide sequences are provided. Methods and kits for generating libraries of sequences are provided. Methods of using selectively enriched non-random polynucleotide sequences for detection of fetal aneuploidy are provided.
摘要翻译： 提供了用于选择性富集非随机多核苷酸序列的方法和试剂盒。 提供了用于产生序列文库的方法和试剂盒。 提供了使用选择性富集的非随机多核苷酸序列检测胎儿非整倍体的方法。
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公开(公告)号：US20110312503A1
公开(公告)日：2011-12-22
申请号：US13012222
申请日：2011-01-24
申请人： Yue-Jen Chuu , Richard P. Rava
发明人： Yue-Jen Chuu , Richard P. Rava
CPC分类号： C12Q1/6883 , C12Q1/6869 , C12Q2600/112 , C12Q2600/156 , C12Q2600/16
摘要： Methods and kits for selectively enriching non-random polynucleotide sequences are provided. Methods and kits for generating libraries of sequences are provided. Methods of using selectively enriched non-random polynucleotide sequences for detection of fetal aneuploidy are provided.
摘要翻译： 提供了用于选择性富集非随机多核苷酸序列的方法和试剂盒。 提供了用于产生序列文库的方法和试剂盒。 提供了使用选择性富集的非随机多核苷酸序列检测胎儿非整倍体的方法。
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