HAPLOTYPE ANALYSIS
    2.
    发明授权
    HAPLOTYPE ANALYSIS 有权
    HAPLOTYPANALYSE

    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

    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.

    NUCLEIC ACID DETECTION METHODS
    4.
    发明公开
    NUCLEIC ACID DETECTION METHODS 失效
    检测方法的NUCLEIC的

    公开(公告)号:EP0827551A2

    公开(公告)日:1998-03-11

    申请号:EP96921212.0

    申请日:1996-05-20

    IPC分类号: C12Q1

    摘要: The invention relates to methods for rapidly determining the sequence and/or length of a target sequence. The target sequence may be a series of known or unknown repeat sequences which are hybridized to an array of probes. The hybridized array is digested with a single-strand nuclease and free 3'-hydroxyl groups extended with a nucleic acid polymerase. Nuclease cleaved heteroduplexes can be easily distinguished from nuclease uncleaved heteroduplexes by differential labeling. Probes and target can be differentially labeled with detectable labels. Matched target can be detected by cleaving resulting loops from the hybridized target and creating free 3-hydroxyl groups. These groups are recognized and extended by polymerases added into the reaction system which also adds or releases one label into solution. Analysis of the resulting products using either solid phase or solution. These methods can be used to detect characteristic nucleic acid sequences, to determine target sequence and to screen for genetic defects and disorders. Assays can be conducted on solid surfaces allowing for multiple reactions to be conducted in parallel and, if desired, automated.

    QUANTIFICATION OF GENE EXPRESSION
    6.
    发明公开
    QUANTIFICATION OF GENE EXPRESSION 有权
    数量化基因表达

    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

    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.

    ACTIVATED SPLIT-POLYPEPTIDES AND METHODS FOR THEIR PRODUCTION AND USE
    7.
    发明公开
    ACTIVATED SPLIT-POLYPEPTIDES AND METHODS FOR THEIR PRODUCTION AND USE 审中-公开
    对于使用活性炭SPALTPOLYPEPTIDE和方法以及

    公开(公告)号:EP1948825A2

    公开(公告)日:2008-07-30

    申请号:EP06827063.6

    申请日:2006-10-27

    IPC分类号: C12Q1/68

    CPC分类号: C12Q1/6883

    摘要: The present invention relates to a method to produce activated split-polypeptide fragments that on reconstitution immediately forms an active protein. The method relate to real-time protein complementation. Also encompassed in the invention is a method to split and produce split-fluorescent proteins in an active state which produce a fluorescent signal immediately on reconstitution. The present application also provides methods to detect nucleic acids; non-nucleic acid analytes and nucleic acid hybridization in real-time using the novel activated split-polypeptide fragments of the invention.

    HAPLOTYPE ANALYSIS
    9.
    发明公开
    HAPLOTYPE ANALYSIS 有权
    单倍型分析

    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

    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.