114 results about "Dna mutation" patented technology

This invention relates to detection of specific extracellular nucleic acid in plasma or serum fractions of human or animal blood associated with neoplastic or proliferative disease. Specifically, the invention relates to detection of nucleic acid derived from mutant oncogenes or other tumor-associated DNA, and to those methods of detecting and monitoring extracellular mutant oncogenes or tumor-associated DNA found in the plasma or serum fraction of blood by using rapid DNA extraction followed by nucleic acid amplification with or without enrichment for mutant DNA. In particular, the invention relates to the detection, identification, or monitoring of the existence, progression or clinical status of benign, premalignant, or malignant neoplasms in humans or other animals that contain a mutation that is associated with the neoplasm through detection of the mutated nucleic acid of the neoplasm in plasma or serum fractions. The invention permits the detection of extracellular, tumor-associated nucleic acid in the serum or plasma of humans or other animals recognized as having a neoplastic or proliferative disease or in individuals without any prior history or diagnosis of neoplastic or proliferative disease. The invention provides the ability to detect extracellular nucleic acid derived from genetic sequences known to be associated with neoplasia, such as oncogenes, as well as genetic sequences previously unrecognized as being associated with neoplastic or proliferative disease. The invention thereby provides methods for early identification of colorectal, pancreatic, lung, breast, bladder, ovarian, lymphoma and all other malignancies carrying tumor-related mutations of DNA and methods for monitoring cancer and other neoplastic disorders in humans and other animals.

The invention discloses a method for performing multi-target-site amplification library construction on plasma free DNA (deoxyribonucleic acid). The method sequentially comprises steps as follows: 1), tail end repairing and A addition are performed; 2), linker connection is performed: a linker DNA with an annular hairpin structure formed through annealing is added to a DNA fragment with A addition at the tail end in the step 1), so that double-stranded DNA after being combined with annular hairpin linkers on two sides is obtained; when the amount of plasma free DNA extracted and purified in the step 1) is smaller than or equal to 10 ng, a step 3) is performed; otherwise, when the amount of plasma free DNA extracted and purified in the step 1) is larger than 10 ng, a step 4) is performed; step 3), a specific primer I, Phi29 enzyme and a buffer solution are added to DNA with linker addition in the step 2), and linear amplification is performed; step 4), PCR (polymerase chain reaction) amplification is performed: amplification products constitute a free DNA mutation site enrichment sequencing library.

The invention relates to the fields of biotechnology, DNA mutation detection technology and bioinformatics, in particular to a gene panel for predicting a new antigen load and detecting genome mutation. Specifically, the invention relates to the gene panel which combines 839 genes and integrates 511 gene fusion events. The gene panel provided by the invention can rapidly, efficiently and accurately predict a new antigen load, and can also detect DNA mutation of multiple sites at one time, so that an optimal individualized treatment drug and scheme can be selected according to genomic characteristics of a patient in a cancer immunotherapy process. In addition, the gene panel provided by the invention can also be used for measuring various types of biomarkers such as SNV, Indel, CNV, gene fusion, MSI, TMB and HLA.

Methods for simultaneously surveying the status of a large number of DNA mutation markers are described. In addition, methods for simultaneously determining the methylation status at multiple sites of a collection of genes, in a single assay, are described.