摘要:
A method and system for classifying a target nucleic acid includes exposing, in a test system, one or more capture probes to the target nucleic acid. The one or more capture probes is attached to a surface. A first hybridization condition is established in the test system. A first degree of hybridization of the one or more capture probes with the target nucleic acid under the first hybridization condition is determined. A second hybridization condition in the test system is established. A second degree of hybridization of the one or more capture probes with the target nucleic acid under the second hybridization condition is determined and the target nucleic acid is classified by comparing the first and the second degrees of hybridization.
摘要:
The present invention provides for novel methods and compositions for nucleic acid sequence detection. Unique, identifying cleavage fragments from probes, bound to target nucleic acids, are produced during PCR by the 5′-nuclease activity of the polymerase. The identity of the targets can be determined by identifying the unique cleavage fragments.
摘要:
The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.
摘要:
The invention is related to a method and test kits for quantitative determination of polynucleotide amounts present in a sample. The test kit comprises organized pools with polynucleotide probes having distinct sizes and optionally provided with tracer tags or primer tags. The probes are allowed to hybridize with affinity tagged analyte polynucleotides from the sample. The result is hybrids, which can be recovered on a separation aiding tool provided with the pair of the affinity tag. After the quantitative release of the probes, the probes are either directly recorded, or if primer tagged, they are amplified and optionally provided with a tracer tag before recording. The invention provides a sensitive and quantitative determination of the amount polynucleotides present in a cell or tissue sample and allows a quantitative assessment of variations in the amounts of polynucleotides as a response to inherent changes or due to external stimuli.
摘要:
Embodiments are provided that provide for parallel sequencing of nucleic acid segments. In some embodiments, a single sequence is sequenced by at least two different sequencing techniques and the results compared, allowing for deficiencies or strengths of one technique to be complemented by the second technique.
摘要:
The present invention generally relates to an apparatus for structural mapping of a macromolecule comprising an amount of persulfide effective to generate hydroxyl radicals upon contact with an aqueous solution. The present invention further relates to methods for structural mapping a macromolecule in an aqueous solution and methods for structural mapping a plurality of macromolecules in parallel, wherein each macromolecule is in a separate aqueous solution.
摘要:
This invention pertains to identifying one or more hybridization probes sequestered within (or optionally released from the intact) cells or microorganisms by mass spectrometry to thereby determine a trait of the cells or microorganisms and/or to identify the cells or microorganisms themselves. The cells or microorganisms can come from a subject and the information obtained from the mass spectrometry analysis may, if clinically relevant, optionally be used to diagnose and/or treat the subject.
摘要:
The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.
摘要:
The present invention provides methods for rapid forensic analysis of mitochondrial DNA and methods for characterizing heteroplasmy of mitochondrial DNA, which can be used to assess the progression of mitochondrial diseases.
摘要:
The present invention is directed in part to a method for detecting a target nucleic acid using detector oligonucleotides detectable by mass spectrometry. This method takes advantage of the 5′ to 3′ nuclease activity of a nucleic acid polymerase to cleave annealed oligonucleotide probes from hybridized duplexes and releases labels for detection by mass spectrometry. This process is easily incorporated into a polymerase chain reaction (PCR) amplification assay. The method also includes embodiments directed to quantitative analysis of target nucleic acids.