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1061 results about "Genes mutation" patented technology
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A gene mutation is a change in an organism's genetic material. Gene mutations can occur for a variety of reasons, and have a range of effects, from benign to malignant.
Rare cell analysis using sample splitting and DNA tags
Described herein are methods to diagnose or prognose cancer in a subject by enriching, detecting, and analyzing individual rare cells, e.g., epithelial cells, in a sample from the subject. Also described are methods for labeling regions of genomic DNA in individual cells in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the method includes detecting the presence of gene mutations in individual rare cells in a subsample.
Owner:GPB SCI +2
Helper-free rescue of recombinant negative strand RNA virus
Owner:MT SINAI SCHOOL OF MEDICINE
Materials and methods for the efficient production of acetate and other products
InactiveUS20040152159A1Increase productionIncrease acetate productionBacteriaHydrolasesGenes mutationAcetic acid
The subject invention provides materials and methods wherein unique and advantageous combinations of gene mutations are used to direct carbon flow from sugars to a single product. The techniques of the subject invention can be used to obtain products from native pathways as well as from recombinant pathways. In preferred embodiments, the subject invention provides new materials and methods for the efficient production of acetate and pyruvic acid.
Owner:UNIV OF FLORIDA RES FOUNDATION INC
Methods of determining protein activity levels using gene expression profiles
InactiveUS6324479B1High similaritySugar derivativesPeptide/protein ingredientsProtein insertionDrug activity
The present invention provides methods for determining the level of protein activity in a cell by: (i) measuring abundances of cellular constituents in a cell in which the activity of a specific protein is to be determined so that a diagnostic profile is thus obtained; (ii) measuring abundances of cellular constituents that occur in a cell in response to perturbations in the activity of said protein to obtain response profiles and interpolating said response profiles to generate response curves; and (iii) determining a protein activity level at which the response profile extracted from the response curves best fits the measured diagnostic profile, according to some objective measure. In alternative embodiments, the present invention also provides methods for identifying individuals having genetic mutations or polymorphisms that disrupt protein activity, and methods for identifying drug activity in vivo by determining the activity levels of proteins which interact with said drugs.
Owner:MICROSOFT TECH LICENSING LLC
Methods and compositions for cancer diagnosis
This invention relates generally to the field of cancer diagnostics. The invention further relates to the use of mutational load distribution analysis (MLDA) to examine changes in the distribution of genetic mutations incident to cancer.
Owner:YALE UNIV
Site specific repairing carrier system and method of blood coagulation factor genetic mutation
The invention discloses a method for carrying out in-situ repairing on blood coagulation factor F8 / F9. The method comprises the following steps: in a target genome sequence, selecting the mutation sites of blood coagulation factor as the gene sites for in-situ repairing; designing the binding sites of nuclease of sgRNA sequence of a CRISPR / Cas system; designing a homologous recombinant repairing donor sequence for in-situ repairing; delivering nuclease protein and / or sgRNA and the nucleotide sequence of the homologous recombinant repairing donor to the gene sites of in-situ repairing by a delivering carrier; generating damages to the genome DNA by the nuclease on the gene in-situ repairing sites; and inserting the homologous recombinant repairing donor sequence into the gene in-situ repairing sites so as to repair the gene or supplement the expression of gene. The in-situ repairing of mutation sites of blood coagulation factor can be applied to the clinic, and the method has the advantages of precise induction, safer and controllable process, and definite target.
Owner:EAST CHINA NORMAL UNIV
Modified free-living microbes, vaccine compositions and methods of use thereof
InactiveUS20080248066A1Reduce microbesReduce spreadBacterial antigen ingredientsBacteriaHeterologous AntigensMicroorganism
Free-living microbes are provided in which the nucleic acid has been modified so that the microbe is attenuated for proliferation and / or which comprise genetic mutations that attenuate the ability of the microbe to repair its nucleic acid. Methods of using the modified microbes for the loading, activation, and / or maturation of antigen-presenting cells are also provided. Vaccine compositions comprising the modified microbes and / or the antigen-presenting cells and methods of using the vaccines are also provided. The microbes may be further modified to include heterologous antigens, such as tumor antigens or infectious disease antigens, for use as a vaccine against cancer or infectious diseases.
Owner:THE JOHN HOPKINS UNIV SCHOOL OF MEDICINE +1
Method for simultaneously detecting microsatellite locus stability and genome change on basis of second generation sequencing
The invention relates to a method for simultaneously detecting microsatellite locus stability and genome change on the basis of second generation sequencing, especially an application of the detection method in assisting in diagnosing a colorectal cancer patient and a corresponding kit. According to the method provided by the invention, the sequence analysis for a plurality of samples can be completed at one time; the detection for genome change, such as, gene mutation and chromosome variation, is completed while the detection for the microsatellite state is completed; no additional experimental operation is required; the analysis time and the cost for detecting the patient are greatly saved; compared with PCR electrophoretic MSI detection gold standard, the detection method provided by the invention has the advantages of matching accuracy, high detection speed, lower price and no dependence on a matched normal sample, so that the detection mode is more convenient.
Owner:GUANGZHOU BURNING ROCK DX CO LTD
Next generation sequencing-based detection panel and detection kit for pan-cancer targeting, chemotherapy and immune drugs and application thereof
ActiveCN109609647AReduce data volumeImprove uniformityMicrobiological testing/measurementGenes mutationCancer targeting
The invention discloses a next generation sequencing-based detection panel and detection kit for pan-cancer targeting, chemotherapy and immune drugs and application thereof. The detection panel includes gene mutations related to pan-cancer type, treatment and prognosis, tumor mutation load calculation related exon regions and microsatellite instability sites. According the technical solution of the present invention, the detection panel includes the gene mutations related to pan-cancer type, treatment and prognosis, the tumor mutation load calculation related exon regions and the microsatellite instability sites, and the gene information included is comprehensive; a variety of tumor mutations can be jointly detected; and the detection panel and detection kit can be used for the concomitantdiagnosis of targeted drugs, chemotherapeutics or immune drugs to obtain accurate results.
Owner:ZHENYUE BIOTECHNOLOGY JIANGSU CO LTD
Methylotroph producing mammalian type sugar chain
ActiveUS20060148039A1FungiImmunoglobulins against cytokines/lymphokines/interferonsBiotechnologyHeterologous
This invention is to provide a process for producing a glycoprotein comprising a mammalian type sugar chain, characterized in that the process comprises introducing an α-1,2-mannosidase gene into a methylotrophic yeast having a mutation of a sugar chain biosynthesizing enzyme gene, so that the α-1,2-mannosidase gene is expressed under the control of a potent promoter in the yeast; culturing in a medium the methylotrophic yeast cells with a heterologous gene transferred thereinto; and obtaining the glycoprotein comprising a mammalian type sugar chain from the culture. Using the newly created methylotrophic yeast having a sugar chain mutation, a neutral sugar chain identical with a high mannose type sugar chain produced by mammalian cells such as human cells, or a glycoprotein comprising such a neutral sugar chain, can be produced in a large amount at a high purity. By introducing a mammalian type sugar chain biosynthesizing gene into the above-described mutant, a mammalian type sugar chain, such as a hybrid or complex, or a protein comprising a mammalian type sugar chain can be efficiently produced.
Owner:NAT INST OF ADVANCED IND SCI & TECH +1
Kit for early stage colorectal cancer auxiliary diagnosis and use method and detection system thereof
InactiveCN106399570ANo detection blind zoneHigh test acceptanceMicrobiological testing/measurementBiological material analysisViral OncogeneGenes mutation
The invention provides a kit for early stage colorectal cancer auxiliary diagnosis and a use method and a detection system thereof. The kit comprises a nucleic acid isolation and purification reagent, a DNA (deoxyribonucleic acid) sulfite conversion reagent, a KRAS (kirsten rat sarcoma viral oncogene homolog) gene mutation detection reagent, a BMP3 (bone morphogenetic protein 3) and NDRG4 (N-myc downsteam regulated gene 4) gene methylation detection reagent and a fecal occult blood detection reagent, wherein the nucleic acid isolation and purification reagent is used for separating and purifying the human DNA in a faeces sample; the DNA sulfite conversion reagent is used for performing sulfite conversion on the purified partial human DNA, and is used for subsequent BMP3 and NDRG4 gene methylation detection. Through detecting two kinds of indexes of DNA and fecal occult blood in the faeces sample in a combined way, the kit provided by the invention is used for the early stage screening of the colorectal cancer. Compared with an FOBT (fecal occult blood test) detection method, the kit provided by the method can realize higher sensitivity on the detection of colorectal cancer, particularly the developing period tumor.
Owner:HANGZHOU NEW HORIZON HEALTH TECH CO LTD
Corynebacterium glutamicum and method for producing high-yield isoleucine with same
ActiveCN105886431ASignificant progressBacteriaMicroorganism based processesGenes mutationMicroorganism
The invention relates to Corynebacterium glutamicum and a method for producing high-yield isoleucine with the same, and belongs to the field of microorganisms and genomics. The Corynebacterium glutamicum, specifically Corynebacterium glutamicum YI is preserved with a preservation number CGMCC NO. 12153. The Corynebacterium glutamicum is obtained by means of mutagenesis and is fermented in a 30L fermentation cylinder for 32-40 hours; the yield of isoleucine is up to 28g / L; accordingly, the method has the advantages of short time for fermentation and high yield and is superior to the prior art. The invention also discloses a gene mutation site of the strain relative to a standard strain, providing a new direction for correlational researches.
Owner:TIANJIN UNIV OF SCI & TECH
Self-adaptive genetic particle swarm hybrid algorithm optimization method
InactiveCN108846472AImprove global search performanceImprove convergence accuracyArtificial lifeGenetic algorithmsGenes mutationMutation probability
Owner:BEIHANG UNIV
Methods for genetic interpretation and prediction of phenotype
InactiveUS20040091933A1Microbiological testing/measurementBiostatisticsHereditary MutationComputerized system
The present invention relates to methods for determining the genetic causes of certain phenotypes. The present invention further relates to methods for predicting the phenotype of a organism from its genotype. In particular, the methods of the invention relate to the use of compendia of biological response profiles of cells having known genetic mutations for comparisons with the biological response profiles of cells having unknown phenotypes and genotypes. The methods of the present invention are particularly useful for monitoring the success of genetic engineering and cross-breeding of crops and livestock. The present invention further relates to a computer system for comparing biological response profiles to a compendium of biological response profiles and to kits for relating the phenotype of a cell type to its genotype or for predicting the phenotype of a cell type.
Owner:ROSETTA INPHARMATICS LLC
Image omics based lesion tissue auxiliary prognosis system and method
The invention discloses an image omics based lesion tissue auxiliary prognosis system and method. The method comprises the steps of extracting image data of lesion parts with an automatic or manual segmentation method from a big-data-volume patient image database; according to segmentation results of lesion part images, extracting image phenotypic characteristics of each lesion part, and finishing feature extraction of image data of all lesion parts in the patient image database; and based on characteristic data and clinical information data of each lesion part, performing training data set and test data set classification on the data in the patient image database, performing pathologic analysis, clinical stage analysis, gene mutation prediction and survival time prediction of the lesion parts in the training data set with a computer automatic identification method, and performing verification in the test data set. The method is capable of performing qualitative and quantitative prediction analysis on a specific individual and providing credible prediction and analysis results.
Owner:INST OF AUTOMATION CHINESE ACAD OF SCI
Early detection and prognosis of colon cancers
InactiveCN101688239ASugar derivativesMicrobiological testing/measurementGenes mutationTumor specific
Owner:THE JOHN HOPKINS UNIV SCHOOL OF MEDICINE +1
Method and kit for detecting multi-drug resistant mycobacterium tuberculosis (MDR-TB)
ActiveCN101845503AAccurate Diagnostic InformationShorten the timeMicrobiological testing/measurementFluorescence/phosphorescenceMulti-drug-resistant tuberculosisGenes mutation
The invention relates to a method adopting double-label probe detection and melting curve analysis for diagnosing the infection of multi-drug resistant mycobacterium tuberculosis and a kit which utilizes the method to detect multiple gene mutations related to drug resistant tuberculosis at the same time, and the invention belongs to the life science and biological technical field. The kit of the invention contains a primer designed for multiple gene mutations related to drug resistant, a double-label oligonucleotide probe capable of detecting multiple common gene mutation sites related to drug resistant tuberculosis and a DNA polymerases with heat stability and without 5' nuclease activity, and the kit can be used to detect at least 16 common gene mutation sites related to drug resistant tuberculosis under proper PCR reaction conditions. The detection method and kit of the invention can be used in the early diagnosis of multi-drug resistant tuberculosis and overcome the problems of the existing technology that the detection time is long, a great deal of manpower and large material resources are needed, the detection cost is high, etc.
Owner:无锡锐奇基因生物科技有限公司
Ligand having agonistic activity to mutated receptor
InactiveUS20060189794A1X-ray/infra-red processesImmunoglobulins against cell receptors/antigens/surface-determinantsThrombopoiesisThrombopoietin
The present inventors used antibody engineering techniques to prepare functional antibodies that correspond to individual mutations in causative genes of diseases, and discovered that such antibodies enable the treatment of the diseases. Specifically, the inventors succeeded in preparing ligands, particularly minibodies, which have agonistic activity to receptors that have almost completely lost responsiveness to their natural ligands because of gene mutations (for example, a thrombopoietin (TPO) receptor whose reactivity to TPO has been markedly impaired), and which can transduce signals by interacting with these mutant receptors at levels comparable to normal.
Owner:CHUGAI PHARMA CO LTD
Transcription activator-like effector nucleases, and encoding genes and application thereof
The invention discloses a pair of transcription activator-like effector nucleases, and encoding genes and application thereof. The pair of transcription activator-like effector nucleases (TALEN) is obtained by fusing a pair of deoxyribonucleic acid (DNA) recognition proteins and two heterologous subunits of a Flavobacterium okeanokoites 1(Fok 1) DNA incision enzyme and can recognize two adjacent loci on goat or sheep beta lactoglobulin gene (BLG) exon2 specifically. When the transcription activator-like effector nucleases are transferred to a host cell simultaneously, the exon2 loci of the BLG gene of the host cell can be targeted by the transcription activator-like effector nucleases, and the targeted loci are subjected to genetic mutation, so that the targeted modification of the goat or sheet BLG gene is realized, and the transcription activator-like effector nucleases have the advantages of high specificity, high targeting efficiency, high accuracy and the like.
Owner:ZHEJIANG UNIV
Application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection
PendingCN106434918AImprove relevanceMicrobiological testing/measurementAntineoplastic agentsMolecular Targeted TherapiesTargeted therapy
The invention provides application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection. Specifically, the invention provides a type of specific gene mutations in patients suffering from pituitary adenoma. The experimental result proves that the patients suffering from pituitary adenoma can be diagnosed by detecting the gene mutations.
Owner:AFFILIATED HUSN HOSPITAL OF FUDAN UNIV +1
Kit for screening deaf gene of Chinese populations, and use method thereof
The invention discloses a kit for one-time qualitative screening of common fourteen mutational sites of deaf gene of Chinese populations and a use method thereof. The kit takes total fourteen sites of the deaf gene of the Chinese populations as detection objects. Application primers and extension primers are respectively designed for the mutation of each site, multiple PCR amplification and markup extension are simultaneously carried out on each target zone, and genotypes of above fourteen sites can be obtained at once through capillary electrophoretic analysis. The screening method and the kit of the invention have advantages of convenient use, simple operation, low cost, high flux, and direct and reliable detection result, and are suitable for large scale screening of the deaf gene mutation of the Chinese populations.
Owner:SUZHOU MUNICIPAL HOSPITAL
T cell receptor related to KRAS gene mutation
ActiveCN108395479ASignificant precision medical featuresHigh affinityOrganic active ingredientsImmunoglobulin superfamilyDiseaseEphA Receptors
The present invention discloses a T cell receptor, which specifically binds to a KRAS gene codon 12 mutation G12D 26aa peptide, wherein the amino acid sequence of the peptide is represented by SEQ IDNO:1 MTEYKLVVVGADGVGKSALTIQLIQN, the 9-12aa epitope polypeptide with high affinity is represented by SEQ ID NO:48 VVVGADGVGK and SEQ ID NO:49 KLVVVGADGVGK when the T cell receptor can identify the HLAmolecule antigen complex, and the HLA molecule is HLA-A0301. The invention discloses the amino acid sequences of the alpha chain and the beta chain of the T cell receptor in the identification of theantigen complex formed by the KRAS gene G12D mutation peptide and the HLA-A0301, nucleotide sequences encoding the alpha chain and the beta chain of the T cell receptor, a vector containing the nucleotide sequences, cells containing the nucleotide sequences, and applications of the vector or the cells in preparation of drugs for prevention and treatment of diseases related to KRAS gene mutation.
Owner:高军 +2
Intelligent tumor medication instruction system
InactiveCN106326652AConvenient guidanceQuick guideSpecial data processing applicationsICT adaptationGermline mutationGenes mutation
The invention relates to an intelligent tumor medication instruction system. The intelligent tumor medication instruction system is characterized by comprising a patient information module, a gene mutation detection module, a medication instruction database and a detection result reporting module, wherein the patient information module is used for recording the basic information of a patient; the gene mutation detection module is used for detecting the gene mutation information of the patient, such as a gene name, a mutation site, mutation conditions, mutation frequency and germline mutation and / or somatic cell mutation; the medication instruction database is used for performing medication instruction and query according to the clinical information of the patient, automatically matching and sequencing the clinical information and the medication instruction and query results, and sending an optimum medication instruction scheme suitable for the tumor patient to the detection result reporting module; a doctor can instruct the medication on the tumor patient according to the medication scheme displayed by the detection result reporting module. The intelligent tumor medication instruction system is widely applied to the diagnosis and medication instruction process of the tumor patient.
Owner:BEIJING CAPITALBIO MEDLAB CO LTD +1
Modified free-living microbes, vaccine compositions and methods of use thereof
ActiveUS7833775B2Reduce microbesReduce proliferationBacterial antigen ingredientsNervous disorderTumour-associated antigenGene mutation
Free-living microbes are provided in which the nucleic acid has been modified so that the microbe is attenuated for proliferation and / or which comprise genetic mutations that attenuate the ability of the microbe to repair its nucleic acid. Methods of using the modified microbes for the loading, activation, and / or maturation of antigen-presenting cells are also provided. Vaccine compositions comprising the modified microbes and / or the antigen-presenting cells and methods of using the vaccines are also provided. The microbes may be further modified to include heterologous antigens, such as tumor antigens or infectious disease antigens, for use as a vaccine against cancer or infectious diseases.
Owner:THE JOHN HOPKINS UNIV SCHOOL OF MEDICINE +1
Gene mutation type recombined protease K and industrialized production method thereof
The invention relates to a gene mutation type recombined protease K and an industrialized production method thereof. Specifically, the invention relates to the gene mutation type recombined protease K which is obtained by performing gene reformation and protein engineering and has an enzymatic activity being more than two times of the enzymatic activity of the same natural protein, and further relates to the industrialized production method and a technical process for utilizing yeast cells to large-scale culture expressing foreign proteins and prepare the gene mutation type recombined protease K.
Owner:GPROAN BIOTECH (SUZHOU) INC
ARMS fluorescent quantitative PCR-based gene mutation kit and method thereof
ActiveCN104031978AIncrease the number of mismatched basesImprove low efficiencyMicrobiological testing/measurementFluorescence/phosphorescenceGenes mutationWorkload
The invention relates to an ARMS fluorescent quantitative PCR-based gene mutation kit and a method thereof. Compared with present gene polymorphism detection kits and methods thereof, the enhanced ARMS fluorescent quantitative PCR-based gene polymorphism mutation kit and the method thereof have the advantages of strong specificity, high sensitivity, low cost, highly reliable result, low background, easy determination of the result, ascendant operation and use, fast and convenient fluorescent quantitative PCR, closed tube detection in the whole course, pollution reduction, and reduction of the unnecessary cost and workload. The fluorescent quantitative PCR can realize the characterization of the amplification efficiency by using a CT value, so the method can realize the detection of the nuclear gene polymorphism heterozygote genotype conditions, and makes the result accurately and reliably determined.
Owner:JIANGSU MACRO&MICRO TEST MED TECH CO LTD
Double-probe gene mutation detecting method based on allele special amplification as well as special chip and kit thereof
ActiveCN101619352AEasy to detectAvoid the hassle of markingMicrobiological testing/measurementGenotypeOligonucleotide
The invention relates to a method for identifying gene mutation types in the field of gene analysis as well as a special chip and a kit thereof. The gene mutation detecting method comprises the following steps: taking a genome to be detected from a human tissue as a template, carrying out multiple allele special PCR amplification by a primer group that is designed aiming at special mutant sites and DNA polymerase without 3'-5' end exonclease activity, then hybridizing the obtained PCR product and an oligonucleotide probe (allele special probe) on the gene chip, and confirming mutation types of all gene sites according to the hybridizing result. The allele special probe is designed aiming at special gene types of gene mutant sites to be detected. The invention can detect gene mutations in comprehensive, systemic and high-flux ways and has light environmental pollution as well as simple and rapid operation compared with PCR-RFLP and a sequencing method.
Owner:CENT SOUTH UNIV
Spiro-substituted pyrimido-cyclic compound, and preparation method and medical application thereof
The invention discloses a spiro-substituted pyrimido-cyclic compound with selective inhibition effect on KRAS gene mutation and a pharmaceutically acceptable salt, a stereoisomer, a solvent compound or a prodrug thereof; the spiro-substituted pyrimido-cyclic compound is represented by a formula (I), and the definition of each group or symbol in the formula is shown in the specification in detail.In addition, the invention also discloses a pharmaceutical composition containing the compound and an application of the compound in preparation of cancer drugs.
Owner:GENFLEET THERAPEUTICS (SHANGHAI) INC +1
Helper-free rescue of recombinant negative strand RNA virus
The present invention relates methods of generating infectious negative-strand virus in host cells by an entirely vector-based system without the aid of a helper virus. In particular, the present invention relates methods of generating infectious recombinant negative-strand RNA viruses intracellularly in the absence of helper virus from expression vectors comprising cDNAs encoding the viral proteins necessary to form ribonucleoprotein complexes (RNPs) and expression vectors comprising cDNA for genomic viral RNA(s) (vRNAs) or the corresponding cRNA(s). The present invention also relates to methods of generating infectious recombinant negative-strand RNA viruses which have mutations in viral genes and / or which express, package and / or present peptides or polypeptides encoded by heterologous nucleic acid sequences. The present invention further relates the use of the recombinant negative-strand RNA viruses or chimeric negative-strand RNA viruses of the invention in vaccine formulations and pharmaceutical compositions.
Owner:MT SINAI SCHOOL OF MEDICINE
New system and kit for screening and diagnosing phenylketonuria
ActiveCN105755109ALow costImprove throughputMicrobiological testing/measurementGenes mutationImage resolution
The invention discloses a new system for screening and diagnosing phenylketonuria.41 common phenylalanine hydroxylase gene mutation sites and 4 most common 6-pyruvoyl tetrahydrobiopterin synthetase (PTPS) gene (PTS) mutation sites are screened to form the gene mutation detection system of phenylketonuria.The system is low in cost and high in throughput.Compared with the prior art, the system has the advantages that most mutation sites can be detected in one system, and 45 mutation sites can be detected; the comprehensive cost is the lowest, and the total cost of the system is lower than built methods using the DNA chip technology, the 'molecular switch' technology, the high-resolution melting curve method and the SNaPShot technology to detect PAH gene mutation; most mutation sites can be detected, the number of the detected mutation sites is twice as the number of the detected PAH gene mutation sites of the high-resolution melting curve method built by Xiamen University, the number of the detected mutation sites is 4 times as the number of the detected mutation sites of the DNA chip technology and the SNaPShot technology, and the number of the detected mutation sites is 6 times as the number of the detected mutation sites of the 'molecular switch' technology.
Owner:SUZHOU MUNICIPAL HOSPITAL +1
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