摘要:
Fast and highly accurate mass spectrometry-based processes for detecting a particular nucleic acid sequence in a biological sample are provided. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.
摘要:
Fast and highly accurate mass spectrometry-based processes for detecting a particular nucleic acid sequence in a biological sample are provided. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.
摘要:
Provided are methods for detecting a target nucleic acid in a biological sample using RNA amplification. In an embodiment, provided is a method that comprises (a) amplifying a target nucleic acid, or portion thereof, using a primer comprising a sequence that is complementary to a polynucleotide sequence in the target nucleic acid, or a complement thereof, and a sequence that encodes an RNA polymerase promoter; (b) synthesizing RNA using an RNA polymerase that recognizes the promoter; and (c) detecting the presence or absence of the resulting RNA using mass spectrometry thereby detecting the presence or absence of the target nucleic acid in the biological sample.
摘要:
Methods and compositions for identifying an unknown phenotype of a tissue that correlates with changes in the methylation state of the tissue comprising, nucleic acid sample from the tissue with a reagent that modifies unmethylated cytosine to produce uracil, amplifying the nucleic acid target gene region using at least one primer that hybridizes to a strand of said nucleic acid target gene region to produce amplified nucleic acids, determining the characteristic methylation state of the nucleic acid target gene region by base specific cleavage and identification of methylation sites and comparing the ratio of methylated cytosine to unmethylated cytosine for each methylation site of the nucleic acid target gene region to the ratio of methylated cytosine to unmethylated cytosine for each methylation site of a tissue nucleic acid sample of the same type having a known phenotype thereby identifying the unknown phenotype.
摘要:
Fragmentation-based methods and systems, particularly mass spectrometric methods and systems, for the analysis of sequence variations are provided.