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1. 发明申请

WO2012069847A1 METHOD OF DIAGNOSING DOWN'S SYNDROME 审中-公开
标题翻译：诊断下肢综合征的方法
公开(公告)号：WO2012069847A1
公开(公告)日：2012-05-31
申请号：PCT/GB2011/052322
申请日：2011-11-25
申请人： UNIVERSITY OF PLYMOUTH ENTERPRISE LIMITED , MADGETT, Tracey Elizabeth , AVENT, Neil David
发明人： MADGETT, Tracey Elizabeth , AVENT, Neil David
IPC分类号： G01N33/68 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/158 , G01N33/689 , G01N2800/387
摘要： A method of diagnosing Down's Syndrome the method comprising identifying a different expression pattern of at least one diagnostic marker in a sample from a patient compared to the normal expression pattern of the marker.
摘要翻译：一种诊断唐氏综合征的方法，该方法包括鉴定来自患者的样品中至少一种诊断标记物与标记物的正常表达模式相比的不同表达模式。

2. 发明申请

WO2012114075A1 METHOD FOR PROCESSING MATERNAL AND FETAL DNA 审中-公开
标题翻译：用于处理材料和方法DNA的方法
公开(公告)号：WO2012114075A1
公开(公告)日：2012-08-30
申请号：PCT/GB2012/000191
申请日：2012-02-24
申请人： UNIVERSITY OF PLYMOUTH , MADGETT, Tracey Elizabeth , AVENT, Neil David
发明人： MADGETT, Tracey Elizabeth , AVENT, Neil David
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6858 , C12Q1/6806 , C12Q1/6883 , C12Q2521/531 , C12Q2600/16
摘要： A method for processing a sample of maternal plasma comprising maternal free DNA and ffDNA is provided, the method comprising the in situ enrichment of the amount of ffDNA relative to the amount of maternal free DNA. In one embodiment, the amount of ffDNA in the sample is increased, for example by PCR methods. In a further embodiment, the amount of maternal free DNA in the sample is decreased, in particular by selective amplification, for example by PCR methods, and selective depletion. The method is particularly useful in the detection of genetic abnormalities in the fetus, in particular Down Syndrome and other aneuploidies.
摘要翻译：提供了一种用于处理包含母体游离DNA和ffDNA的母体血浆样品的方法，所述方法包括相对于母体游离DNA的量的ffDNA的原位富集。在一个实施方案中，样品中的ffDNA的量例如通过PCR方法增加。在另一个实施方案中，样品中母体游离DNA的量特别是通过选择性扩增降低，例如通过PCR方法和选择性消耗。该方法特别适用于检测胎儿遗传异常，特别是唐氏综合征和其他非整倍体。

3. 发明申请

WO2017194973A1 METHOD FOR BOOD GROUP GENOTYPING 审中-公开
标题翻译： BOOD组基因分型的方法
公开(公告)号：WO2017194973A1
公开(公告)日：2017-11-16
申请号：PCT/GB2017/051347
申请日：2017-05-15
申请人： UNIVERSITY OF PLYMOUTH
发明人： AVENT, Neil David , MADGETT, Tracey Elizabeth , HALAWANI, Amr Jamal , ALTAYAR, Malik
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6881 , C12Q1/6869 , C12Q2535/122
摘要： The present invention provides a method for determining a Kidd ( JK ) blood group phenotype of a patient, the method comprising analysing the genetic sequence of the patient's blood group defining alleles; comparing that sequence to at least one of the JK reference sequences of SEQ ID NO: 19-22; and determining the level of homology between the patient's genetic sequence and the reference sequences(s), wherein homology of at least 80% indicates one of the patient's JK phenotypes as identified by the reference sequence and wherein homology of about 40% to about 60% indicates a hybrid phenotype. The present invention additionally provides a method for determining the RHD haplotype of a patient, the method comprising analysing the genetic sequence of the patient's blood group defining alleles; comparing that sequence to at least one of the RHD reference sequences of SEQ ID NOs:23-25; and determining the level of homology between the patient's genetic sequence and the reference sequence(s), wherein homology of at least 80% indicates one of the patient's RHD haplotypes as identified by the reference sequence
摘要翻译：本发明提供了用于确定患者的Kidd（Jκ）血型表型的方法，所述方法包括分析患者的血型定义等位基因的基因序列; 将该序列与SEQ ID NO：19-22的至少一个JK参考序列进行比较; 并确定患者基因序列与参考序列之间的同源性水平，其中至少80％的同源性指示参考序列鉴定的患者的Jκ表型之一，并且其中约40％至约60％表示杂种表型。本发明另外提供了用于确定患者的RHD单体型的方法，所述方法包括分析患者的血型定义等位基因的基因序列; 将该序列与SEQ ID NO：23-25的至少一个RHD参照序列进行比较; 并确定患者基因序列与参考序列之间的同源性水平，其中至少80％的同源性指示由参考序列鉴定的患者的RHD单倍型之一，

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