629 results about "Genes mutation" patented technology

The present invention belongs to the technical field of medicinal chemistry, and particularly relates to a pyrimidine macrocyclic compound. The compound has a good inhibitory effect on KRAS mutations, has a good inhibitory effect on the G12V mutation and other types of mutations of the KRAS gene, can be used as a general KRAS inhibitor, and can be used for the treatment of tumors driven by KRASG12V and other types of gene mutations.

The invention relates to a data processing method and system for multi-source complex biological information data. According to the method, expression profile data, gene variation data and clinical survival data are collected, and unified standardization processing is carried out on the collected data. Feature alignment is performed on different source data based on sample identifiers, a joint feature expression matrix is constructed, and a context dependency relationship across data types is maintained. On the basis, multi-stage feature screening is carried out through Lasso regression and information gain evaluation in sequence, and an optimal feature subset used for modeling is obtained. And further training a risk scoring model by adopting a Cox proportional risk regression method, and calculating a risk scoring value of the sample by utilizing the constructed continuous scoring function. And finally, dividing the score value into a plurality of risk levels, and generating a survival curve of each level in combination with a Kaplan-Meier estimation method so as to verify the risk layering effect and prediction significance of the model. According to the method, the accuracy of biological information modeling can be improved, and the method has good universality and practical value.

The invention belongs to the technical field of gene engineering, and particularly relates to application of a ZmDIR11 gene in regulating and controlling salt stress resistance of corn. After salt stress treatment, it is found that the ZmDIR11 gene mutant corn plant growth vigor and material accumulation are significantly lower than those of a wild type B73 material, an oxidative metabolism regulation path, proline accumulation, chlorophyll synthesis, lignan accumulation and a Na < + > / K < + > transport pathway are inhibited, and related metabolic indexes are significantly lower than those of the wild type B73 material. It is shown that the ZmDIR11 gene positively regulates and controls the salt-resistant metabolic pathway of the corn in the corn, and the salt tolerance of the corn is reduced after the ZmDIR11 gene is mutated. The research provides a new gene resource for corn salt-tolerant breeding by utilizing gene engineering.

The invention discloses a breast cancer lymph node metastasis prediction system based on a gene spectrum, and relates to the technical field of breast cancer prediction systems. Comprising a data acquisition module which collects gene spectrum data of a breast cancer patient and collects detailed clinical information of the patient; the preprocessing module is used for carrying out data cleaning and data normalization processing on the collected data; and the feature extraction module is used for extracting principal component features by applying principal component analysis on the basis of the gene expression data. According to the method, gene expression data are considered, various gene spectrum data such as gene mutation and copy number variation and detailed clinical information are integrated, the biological characteristics of the breast cancer can be reflected more comprehensively, and the prediction accuracy is improved.

Purinostat mesylate (PM) for preventing and treating diffuse large B-cell lymphoma (DLBCL), an analogue thereof, a drug for combined use, and the use. PM exhibits excellent in-vivo and in-vitro anti-tumor therapeutic effects on DLBCL (DEL and DHL) subtypes with poor prognosis, DLBCL subtypes having TP53 deletion and mutation combined with a plurality of poor prognosis gene mutations, and DLBCL having TP53 mutation with double expressors, which are superior to that of most existing DLBCL clinical therapy plans. A doublet or triplet therapy of PM with rituximab, R-CHOP, venetoclax and R-CHP also exhibits excellent in-vivo therapeutic effects against DLBCL and a plurality of subtypes. Thus, PM and the drug for combined use have an important clinical significance for the DLBCL and a plurality of subtypes.

A bioenergy generator to increase the life force of a biological system is provided. The bioenergy generator includes fine pieces of natural stone, fine pieces of natural sand, fine pieces of metal, water and a supporting material operable to hold the natural sand, the natural stone, the metal, and the water together. Uses of the bioenergy generator are also provided, in particular, to treat a muscular degenerative disease and to improve genetic mutations.

The invention discloses a primer combination for identifying six genital tract pathogens and detecting drug resistance genes, a kit and application, the primer combination comprises a primer combination for identifying chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, mycoplasma hominis, neisseria gonorrhoeae and trichomonas vaginalis and detecting the drug resistance genes of the six genital tract pathogens, and nucleotide sequences are shown as SEQ ID NO.1-SEQ ID NO.50. Microorganisms and related drug-resistant genes in a detection range are identified by utilizing a multiple PCR targeted three-generation sequencing method, the specificity is good, the sensitivity is high, the detection technology has important clinical significance when being applied to identification of genital tract infection pathogens, and compared with a traditional detection method, the detection flux, the coverage range and the sensitivity are higher, and detection is stable; compared with pathogenic microorganism metagenome (mNGS) detection, the method has the advantages that the detection cost is lower, and the detection sensitivity on drug-resistant genes and drug-resistant gene mutation is higher.

An antigen peptide is provided specifically for treating individuals suffering from ovarian cancer, preferably based on BRCA1 gene c. 5470_5477del8 mutation. It is selected from amino acid sequences of SEQ ID NO. 1 to SEQ ID NO. 6, or derived by substitution, deletion and / or addition of at least one amino acid. The neoantigen polypeptides of the present disclosure can significantly activate T lymphocytes specific to the BRCA1 gene c. 5470_5477del8 mutation in vitro, stimulating the release of the cytokine IFN-y, indicating notable immunogenicity. This enhances T lymphocytes' ability to target and kill cancer cells from ovarian cancer patients carrying the BRCA1 gene c. 5470_5477del8 mutation. Additionally, the antigen peptide can activate and expand human T lymphocytes specific to the BRCA1 gene c. 5470_5477del8 mutation in vitro for adoptive cell therapy. The antigen peptide of the present disclosure addresses the gap in personalized antigen peptide therapies for ovarian cancer patients with BRCAl-c. 5470_5477del8 somatic mutations.

The present invention provides a novel therapeutic drug for treating a Prom1-associated retinal disease. Specifically, the present invention provides an optimized Prom1 gene expression cassette, an rAAV viral vector, and a gene therapy drug. The drug of the present invention can specifically express the PROM1 protein in the retinal photoreceptor layer, and is suitable for the clinical treatment of a retinal disease associated with Prom1 gene mutation.

The invention relates to the technical field of precision medical treatment, in particular to an interpretation system and method for tumor precision medication and a storage medium, and the system comprises a data collection module which is used for collecting gene data, clinical data and drug response data of tumor patients from a plurality of data sources; the data standardization processing module is used for carrying out formatting and standardization processing on the data, so that the data formats are consistent, and effective processing and analysis can be carried out in subsequent modules; the gene data analysis module is used for performing variation analysis according to the gene data of the patient, identifying a gene mutation site and generating a drug sensitivity analysis result; and the drug screening module is used for screening drugs matched with the gene variation sites of the patient from a drug database according to the gene data analysis result, and providing drug dosage recommendation. By adopting the technical scheme of combining a quantum optimization technology and gene data analysis, the technical effect of remarkably improving the drug screening and dose recommendation precision is achieved.

Disclosed in the present invention is a use of alisol-B23-acetate (AB23a) in the preparation of a drug for preventing or treating hypertrophic cardiomyopathy and diseases caused by the hypertrophic cardiomyopathy. The present invention provides for the first time a use of AB23a in the prevention or treatment of hypertrophic cardiomyopathy. According to the present invention, use of AB23a in direct in vitro treatment of cardiomyocytes derived from directed differentiation of human embryonic stem cells revealed that AB23a-based in-vitro treatment can significantly inhibit hypertrophic phenotypes of the human embryonic stem cells-cardiomyocytes; using an AB23a-containing feed to feed mice with hereditary hypertrophic cardiomyopathy caused by a gene mutation revealed that AB23a prominently relieves pathological myocardial hypertrophy of the mice and improves the cardiac function; AB23a can be used for preparing a drug for resisting hereditary hypertrophic cardiomyopathy, offering a novel way and means for treating hypertrophic cardiomyopathy; and AB23a is the main medicinal ingredient in the traditional Chinese medicinal herb-Rhizoma Alismatis, is safe to organisms, and has good clinical application prospects.

The construction of a non-human primate Usher syndrome disease model having USH2A gene mutation, wherein a target sequence against the mRNA of the non-human primate USH2A gene is established and a corresponding sgRNA is synthesized, then a knockout vector is constructed, the sgRNA and a Cas9 mRNA are mixed and injected into a non-human primate embryo to obtain a non-human primate embryo having USH2A gene knockout, and then by means of embryo transfer, a non-human primate having USH2A gene knockout is obtained, which exhibits symptoms of Usher syndrome. Upon detection and identification of the knockout effect, the knockout of the USH2A gene can be effectively realized in a non-human primate cynomolgus monkey embryo and cynomolgus monkeys, which provides a new and effective disease model for the diagnosis and treatment of Usher syndrome in non-human primates.

The disclosure features systems and methods for correcting a mutation in the human beta-globin (HBB) gene in a cell or population of cells. The disclosure also features methods of increasing repair of a DNA double stranded break (DSB) in an HBB gene by the homology-directed repair (HDR) pathway. The disclosure also features compositions for use in the methods.

The invention relates to the technical field of pathogenic bacterium detection, in particular to a method and a kit for detecting helicobacter pylori gene mutation in excrement. According to the technical scheme, the kit for detecting helicobacter pylori gene mutation in excrement is developed by combining multiple advanced technical means such as ARMS-PCR design, blocking primers, locked nucleic acid modification (peptide nucleic acid modification), MGB probes, nested PCR design and degenerate base design. The kit can detect nine gene mutation sites related to the drug resistance of helicobacter pylori at one time, and has a wide coverage range. The kit in the scheme can be used for detecting the drug resistance of quinolone antibiotics and / or clarithromycin antibiotics of helicobacter pylori, and the technical problem that a high-specificity and high-sensitivity excrement helicobacter pylori gene mutation detection method is lacked in the prior art is solved. The method is simple and convenient to operate and can be completed within 1-2 hours, the detection cost is reduced, and the method has ideal application and popularization prospects.

The invention is applicable to the technical field of biomedicine, and provides a method and a kit for detecting KCNJ5 gene mutation, and the method comprises the following steps: extracting a cfDNA sample; the method comprises the following steps: carrying out PCR (Polymerase Chain Reaction) amplification reaction by using a specific primer and a probe aiming at a KCNJ5 gene mutation site and taking a sample as a template; the specific primers and probes aiming at the mutation site of the KCNJ5 gene comprise specific primers and probes aiming at the mutation site of the G151R (c.451Ggt; the invention relates to a specific primer and a probe for G151R (c.451Ggt; the invention relates to a specific primer and a probe of L168R (c.503Tgt; C), aiming at L168R (c.503Tgt; g), a specific primer and a probe; sequencing a PCR amplification product, analyzing a sequencing result, and determining whether the KCNJ5 gene mutation exists or not. According to the invention, high-sensitivity and high-specificity detection of KCNJ5 gene mutation is realized by combining the specific primer and the probe with a digital PCR technology, and three main mutation types of the KCNJ5 gene can be detected at 0.01% mutation allele frequency level.

The invention provides to improved methods for the modification of genes in plant cells, and plants and seeds derived therefrom. More specifically, the invention relates to the increased efficiency of targeted gene mutation by combining gene repair oligonucleotides with approaches that enhance the availability of components of the target cell gene repair mechanisms.

The invention discloses an antigen polypeptide related to BRAF gene V600E mutation and application of the antigen polypeptide. On the basis of a classical tumor neoantigen affinity prediction technology, an advanced immunogenicity prediction AI algorithm is adopted to improve the accuracy of tumor neoantigen prediction; the antigen polypeptide related to BRAF gene V600E mutation is characterized in that a replacement peptide for enhancing immunogenicity is further excavated based on a biological information screening technology of amino acid editing, the sequence of the antigen polypeptide related to BRAF gene V600E mutation is shown as any one of SEQ ID NO: 1-3, and the antigen polypeptide can remarkably activate T cells specifically aiming at BRAF mutation of a human body and enhance the killing ability of the T cells to BRAF mutation tumor cells. Therefore, the antigen polypeptide obtained by the invention has good potential of polypeptide vaccines and good clinical transformation and disease prevention prospects.

The invention relates to a corn ZmmtRF2a gene mutation marker, an identification primer and application of the corn ZmmtRF2a gene mutation marker in regulation and control of grain development. A natural grain mutant crk5 found in a corn field breeding line selection process is utilized, a target gene ZmmtRF2a causing crk5 grain mutation is obtained through phenotypic analysis, linkage analysis and map-based cloning technologies, the gene encodes a peptide chain release factor 2a for mitochondrial localization, the peptide chain release factor 2a affects the mitochondrial function, and the gene can be used for inducing the mutation of the crk5 grain. The development of corn embryos and endosperm and the accumulation of grain storage substances are regulated and controlled. In crk5, ZmmtRF2a lacks 5th to 7th exons, the encoded truncated protein does not have GGQ and SPF motifs, the motifs are crucial to release activity of RF, mitochondrial binding and termination codon recognition, technical support is provided for utilization of the gene, and a new way is opened up.

The invention relates to the field of plant genetic engineering. Specifically, the invention relates to a method for creating a novel herbicide-resistant plant through a plant basic group editing technology and screening an endogenous gene mutation site capable of endowing the plant with herbicide resistance. The invention also relates to the use of the identified mutated endogenous resistance gene in crop breeding.

The present invention provides compositions and methods of their use in treating dystroglycanopathy, muscular dystrophy and other disorders. In particular, a method of treating a disorder associated with a mutation or loss of function in a fukutin related protein (FKRP) gene and / or a disorder associated with a defect in glycosylation of α-DG in a subject is provided, comprising administering to the subject an effective amount of a ribitol and a selective estrogen receptor modulator (SERM).

The invention discloses a multiple qPCR (quantitative polymerase chain reaction) primer probe group for drug-resistant gene mutation detection of eleusine indica and application of the multiple qPCR primer probe group. The multiple qPCR primer probe group comprises ALS-F, ALS-R, ALS-P, GS1-1-GF2, GS1-1-GB2, GS1-1-R, GS1-1-P, EPSP-F, EPSP-R, EPSP-P2, 102I-T, 102-B, 106-P and 106-B. The multiple qPCR primer probe group is used for detecting drug-resistant gene mutation of eleusine indica. The invention also discloses a kit comprising the primer probe group and application of the primer probe group and the kit in detection of drug-resistant gene mutation of eleusine indica. The method has the advantages of high throughput, simplicity and convenience in operation, visual result, more time saving and the like.

The invention discloses an application of ARN2966 in the treatment of UMOD (Urban Molecular Orthodontic Disease) gene mutant autosomal dominant hereditary renal tubular interstitial nephropathy (ADTKD), and belongs to the field of biomedicine. The ARN2966 has the advantages that the ARN2966 can be used for the treatment of UMOD gene mutant autosomal dominant hereditary ADTKD, and the ARN2966 can be used for the treatment of UMOD gene mutant autosomal dominant hereditary ADTKD; the application comprises the application of the amyloid precursor protein (APP)-CD74 signal axis blocking agent in the preparation of the medicine for treating the hereditary tubulointerstitial nephropathy, and the application comprises the application of the amyloid precursor protein (APP)-CD74 signal axis blocking agent in the preparation of the medicine for treating the hereditary tubulointerstitial nephropathy. Compared with the prior art, the key effect of an APP-CD74 signal axis in ADTKD-Umod pathogenesis is disclosed for the first time, and ARN2966 provides a brand new intervention strategy for treatment of ADTKD-Umod through targeted regulation and control of the pathway. Compared with a broad-spectrum anti-inflammatory drug, the ARN2966 has high targeting specificity, and side effects caused by non-specific immunosuppression can be avoided. Although the ARN2966 does not enter a clinical research stage at present, due to the unique action mechanism and verified safety characteristics of the ARN2966, the ARN2966 has remarkable transformation medical value and clinical application prospect in the aspect of developing ADTKD-Umod targeted therapeutic drugs.

To identify gene mutations in MYD88 and / or CD79B simultaneously.SOLUTION: The present invention comprises: a primer set for MYD88 gene mutations, and a primer set for CD79B gene mutations; as well as a mutant-type probe for MYD88 gene, a wild-type probe for MYD88 gene, a mutant-type probe for CD79B gene, and a wild-type probe for CD79B gene.SELECTED DRAWING: None

The invention relates to the technical field of biology, in particular to application of a rice biological clock gene OsRVED in regulation and control of rice salt stress resistance, and provides application of a rice OsRVED gene as shown in SEQ ID NO.1, a rice OsRVED gene CDS sequence as shown in SEQ ID NO.2 and protein as shown in SEQ ID NO.3 in regulation and control of plant salt stress response. According to the invention, transgenic rice with OsRVED gene mutation is obtained through a CRISPR (clustered regularly interspaced short palindromic repeats) editing technology. After the transgenic rice OsRVED gene knockout mutant is subjected to 180mM NaCl salt stress simulation treatment, the phenotype is observed, the survival rate is counted, it is confirmed that the osrved mutant shows the salt tolerance phenotype compared with receptor rice Zhonghua No.11, and it is indicated that the OsRVED plays an important role in the process of responding to rice salt stress.

The invention provides a gene variation detection method and device, electronic equipment and a storage medium. The gene variation detection method comprises the following steps: acquiring first long read length sequencing data of a to-be-detected sample, and comparing the first long read length sequencing data with a reference genome to obtain first comparison data; determining a region of the target gene in the reference genome, and calculating a first sequencing depth of the target gene according to the determined region and the first comparison data; determining a first base distribution ratio of the first sub-target gene to the second sub-target gene, and calculating a first sub-sequencing depth of the first sub-target gene and a second sub-sequencing depth of the second sub-target gene according to the first base distribution ratio and the first sequencing depth; and calling a pre-trained detection model to perform copy number variation detection based on the first sub-sequencing depth and the second sub-sequencing depth to obtain a target copy number variation type of the to-be-detected sample. According to the embodiment of the invention, the accuracy of gene variation detection can be improved.

The invention relates to the technical field of biological gene mutation prediction, in particular to a multi-omics feature-based missense mutation function classification method and system. The classification method comprises the following steps: S1, collecting a multi-omics comprehensive feature set related to missense mutation; s2, constructing a heterogeneous graph; s3, learning a meta-path-based weight of each node in the heterogeneous graph; s4, calculating weights of different meta-paths by using attention of a semantic level; s5, performing weighted summation on the node weight and the meta-path weight to obtain final embedding representation of each node; s6, training to obtain a multi-omics feature-based missense mutation function classification model; and S7, outputting a prediction score based on the multi-omics feature missense mutation function classification model, and dividing missense mutation according to the prediction score. According to the method, the heterogeneous graph is constructed by utilizing multiple omics characteristics, and the relationship between biological entities is explicitly modeled, so that GOF and LOF mutations are distinguished more accurately.

The invention discloses a fusion protein, an artificial antigen presenting molecule and application of the artificial antigen presenting molecule in NKT amplification. The fusion protein comprises CD1d and beta2M linked by a linker. According to the fusion protein, CD1d and beta2M are connected through a linker, the fusion protein can be used for specific amplification of NKT cells by artificial antigen presenting molecules, and the potential safety hazard that gene mutation may be caused by irradiation of PBMC is avoided. Moreover, the amplification effect of an artificial antigen presenting molecule adopting the fusion protein is better than that of a dimer artificial antigen presenting molecule formed by spontaneous polymerization of CD1d and beta2M, meanwhile, the fusion protein is used for the artificial antigen presenting molecule, and specific amplification of NKT cells can be realized by adopting a very short scaffold protein structure; the production cost of the artificial antigen presenting molecule is reduced while the specific amplification effect of the NKT cells is improved.

The disclosure relates to novel plants, plant parts, and nucleotide sequences in soybean plants comprising a mutated JAG1 gene, along with methods of using and making the same. Wherein the mutated JAG1 gene comprises a null mutation in the JAG1 gene encoding the polypeptide of SEQ ID NO: 10 or an allelic variant thereof and wherein the soybean plant cell lacks a loss-of-function mutation in the soybean JAG2 gene.

The invention provides a kit for detecting TP53 gene mutation. The kit for detecting TP53 gene mutation provided by the invention can accurately detect six TP53 gene mutation sites, namely R175H, R249S, R282W, R248Q, R273H and G245S, in genome DNA to be detected at the same time through a multiple fluorescent PCR reaction system and a multi-channel fluorescent signal, can accurately detect the six mutation sites, has ultrahigh amplification efficiency, detection efficiency, sensitivity and specificity, and can be widely applied to detection of TP53 gene mutation. The genotype of a sample with the genome DNA content of 1 ng can be accurately detected, the operation is simple and convenient, and the cost is low.