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公开(公告)号：EP1587946A2
公开(公告)日：2005-10-26
申请号：EP04703049.9
申请日：2004-01-16
IPC分类号： C12Q1/00
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q2600/156 , C12Q2527/137 , C12Q2537/143 , C12Q2565/627
摘要： The present invention provides an efficient way for high throughput haplotype analysis. Several polymorphic nucleic acid markers, such as SNPs, can be simultaneously and reliably determined through multiplex PCR of single nucleic acid molecules in several parallel single molecule dilutions and the consequent statistical analysis of the results from these parallel single molecule multiplex PCR reactions results in reliable determination of haplotypes present in the subject. The nucleic acid markers can be of any distance to each other on the chromosome. In addition, an approach wherein overlapping DNA markers are analyzed can be used to link smaller haplotypes into larger haplotypes. Consequently, the invention provides a powerful new tool for diagnostic haplotyping and identifying novel haplotypes.
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公开(公告)号：EP1546385A2
公开(公告)日：2005-06-29
申请号：EP03752087.1
申请日：2003-09-05
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6851 , C12Q2545/107 , C12Q2535/125 , C12Q2525/186
摘要： The present invention relates to a method for measuring the amount of a target nucleic acid in a sample using a standard which is designed to have one base difference compared with the gene of interest or a 'target nucleic acid sequence.' Use of such standard in combination with a method of 'enhancing' the difference in the standard and the test nucleic acid sample using, for example, a base extension reaction carried right at the mutation site allowing amplification of the standard and target nucleic acids with the same efficiency and facilitating quantification of the target nucleic acid. Thereafter a means of quantifying the 'enhanced' standard and target nucleic acid samples is used to determine the amount of the target nucleic acid. In the preferred embodiment, the quantification means is Mass Spectrometry.
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公开(公告)号：EP1689884A2
公开(公告)日：2006-08-16
申请号：EP04785393.2
申请日：2004-10-08
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6876 , C12Q2600/154 , C12Q2600/156 , C12Q2600/166 , C12Q2521/331
摘要： Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.
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公开(公告)号：EP1664077A2
公开(公告)日：2006-06-07
申请号：EP04783186.2
申请日：2004-09-07
CPC分类号： C12Q1/6881 , C12Q1/6872 , C12Q2600/156 , C12Q2600/172 , C12Q2535/125
摘要： The present invention is directed to methods of detecting nucleic acids in a biological sample. The method is based on a novel combination of a base extension reaction, which provides excellent analytical specificity, and a mass spectrometric analysis, which provides excellent specificity. The method can be used, for example, for diagnostic, prognostic and treatment purposes. The method can be used, for example, for diagnostic, prognostic and treatment purposes. The method allows accurate detection of nucleic acids that are present in very small amounts in a biological sample. For example, the method of the present invention is preferably used to detect fetal nucleic acid in maternal blood sample; circulating tumor-specific nucleic acids in a blood, urine or stool sample; and donor-specific acids in transplant recipients. In another embodiment, one can detect viral, bacterial, fungal, or other foreign nucleic acids in biological sample.
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公开(公告)号：EP1587946B1
公开(公告)日：2009-07-08
申请号：EP04703049.9
申请日：2004-01-16
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6858 , C12Q2600/156 , C12Q2527/137 , C12Q2537/143 , C12Q2565/627
摘要： The present invention provides an efficient way for high throughput haplotype analysis. Several polymorphic nucleic acid markers, such as SNPs, can be simultaneously and reliably determined through multiplex PCR of single nucleic acid molecules in several parallel single molecule dilutions and the consequent statistical analysis of the results from these parallel single molecule multiplex PCR reactions results in reliable determination of haplotypes present in the subject. The nucleic acid markers can be of any distance to each other on the chromosome. In addition, an approach wherein overlapping DNA markers are analyzed can be used to link smaller haplotypes into larger haplotypes. Consequently, the invention provides a powerful new tool for diagnostic haplotyping and identifying novel haplotypes.
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