557 results about "Gene mutation" patented technology

The invention belongs to the technical field of medicinal chemistry, and particularly relates to a hydroxyl-substituted dihydroisoquinolinone compound. The compound has a good KRAS G12V mutant gene inhibition effect, and can be used for treating tumor diseases related to KRAS G12V gene mutation.

The invention discloses a multi-omics causal structure relation learning method based on comparative learning, which comprises the following steps: firstly, respectively constructing corresponding encoders for preprocessed gene mutation and gene expression data, and respectively carrying out feature extraction on two kinds of omics data; then, constructing a projection head with shared parameters to realize cross-modal feature alignment; then, using the aligned features as nodes, and constructing causal graph data through a learnable causal graph structure; constructing a graph neural network to learn causal graph representation, and constructing a contrast loss function; and finally, a model prediction result is obtained through a multi-layer perceptron, a survival prediction loss function is constructed, and a total loss function is obtained for multi-omics causal structure model training. Based on gene mutation and gene expression data, a cross-omics causal structure relationship is constructed and learned through comparative learning, more accurate prognosis prediction is provided for diseases such as acute myelogenous leukemia and the like, and potential biomarkers and key regulatory factors are helped to be found.

The invention discloses a lung cancer gene mutation classification method based on frequency domain multi-scale fusion guidance, and relates to the technical field of medical image processing and gene detection. According to the MFHA mechanism provided by the invention, the pathological image is decoupled into low-frequency global and high-frequency detail sub-bands through wavelet transform, and extraction of key high-frequency features such as cell nucleus morphology and local texture is enhanced by combining multi-scale convolution and up-sampling guided by high-frequency information; the problems of insufficient feature detail mining and low feature fusion efficiency in a traditional pathological image analysis method are solved; key features are screened and focused through a channel, frequency domain-space feature deep fusion is realized through up-sampling, robust representation is constructed by combining space attention with cosine similarity and multi-dimensional statistical features, a frequency domain analysis-space focusing collaborative optimization mechanism is formed, information redundancy caused by simple feature splicing is avoided, and the robustness of the system is improved. And the classification stability of the model in a complex pathological scene is improved.

The invention relates to the field of medical image analysis, in particular to a lung adenocarcinoma EGFR gene mutation detection system and method based on PET / CT deep learning, and the system comprises a data collection module which is used for obtaining PET / CT image data and clinical information of a lung adenocarcinoma patient; the image preprocessing module is connected with the data acquisition module and is used for carrying out standardization processing and ROI extraction on the PET / CT image data; the feature extraction module is connected with the image preprocessing module and used for extracting depth features, metabolic parameter features and CT sign features from the PET / CT image data; the multi-modal data fusion module is connected with the feature extraction module and used for fusing the extracted multi-modal features; and the prediction model module is connected with the multi-modal data fusion module and is used for predicting the lung adenocarcinoma EGFR gene mutation state and prognosis based on the fusion features, and the prediction accuracy is improved through multi-modal data fusion and deep learning technologies.

The present invention relates to a method of treating a glucose-6-phosphate dehydrogenase dysregulated disorder in a subject in need thereof, the method comprising administering to the subject an effective amount of oleanolic acid, a conjugated salt thereof, or a prodrug thereof. The glucose 6-phosphate dehydrogenase dysregulated disorder can be myofibrillar myopathy, amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease and Alzheimer's disease caused by BCL2 associated immortal gene mutation.

The invention belongs to the technical field of biotechnology and agricultural biological breeding, and relates to a sorghum double haploid breeding method which comprises the following steps: (1) performing gene mutation on SbMTL and SbDMP to obtain a sorghum double-gene mutant strain according to any one of claims 1 to 3; (2) screening and identifying sorghum haploids by using GFP (Green Fluorescent Protein) marker and Ruby marker genes; and (3) naturally doubling the obtained haploid plant to obtain the double haploid of sorghum. SbMTL and SbDMP genes of sorghum are knocked out by utilizing a CRISPR / Cas9 technology so as to realize high-frequency haploid induction, meanwhile, an effective haploid selection marker is introduced, the induction frequency of a haploid induction system is evaluated, and after the obtained haploid plant is naturally doubled, a double-haploid system of sorghum is successfully obtained. The induction efficiency of the sorghum haploid induction line reaches up to 18% or above, the economic value is high, and the process of sorghum breeding is remarkably promoted.

The invention relates to the technical field of biology, in particular to application of coding sites of soybean PRR5a and PRR5b genes in the aspect of regulating and controlling salt tolerance and application of a mutant material generated by the coding sites in the aspect of regulating and controlling the salt tolerance of soybeans. According to the invention, an effective target for editing soybean PRR5a and PRR5b genes is subjected to double-strand breakage under mediation of endonuclease Cas9, so that different allele mutants of PRR5a and PRR5b are obtained. By knocking out the PRR5a and PRR5b genes, a new strategy is provided for enhancing the salt tolerance of the soybeans, reliable means and materials are also provided for cultivating new varieties of the soybeans and improving the salt tolerance, and the method plays an important role in research and production of crops.

The invention discloses application of a rice OsbHLH083 gene in regulation and control of seed germination capability, and relates to the technical field of plant genetic engineering. The CDS sequence of the rice OsbHLH083 gene is as shown in SEQ ID NO. 2, and the amino acid sequence of the coded protein is as shown in SEQ ID NO. 3. The molecular biology function of the rice OsbHLH083 gene for regulating rice germination is studied, after the rice OsbHLH083 gene is edited through CRISPR / Cas9, compared with a wild type, the rice OsbHLH083 gene mutant rice seeds germinate slower, the rice OsbHLH083 gene and a protein coded by the rice OsbHLH083 gene can be used for regulating the phenotype of seed germination, and the rice OsbHLH083 gene mutant rice seeds germinate more slowly. And a gene resource is provided for the genetic improvement of rapid germination and seedling formation characters of the direct seeding rice seeds in the field.

The invention discloses a method for regulating and controlling the flowering phase of corn and application of the method, and belongs to the field of plant biotechnology breeding. According to the novel flowering phase regulation gene ZmDB6 provided by the invention, after mutation, the ZmDB6 has a phenotype with early flowering phase and reduced leaf number, the flowering phase is properly advanced, the other agronomic traits are not greatly changed, the planting range can be expanded, the multiple cropping index can be improved, the high-temperature harm in the tasseling and flowering phase can be effectively reduced, and the yield of the tasseling and flowering phase can be improved. Probabilities of early frost damage in a pustulation period, preharvest sprouting in a rainy season in a mature period, late-period pest and disease damage and the like are greatly improved, and the ZmDB6 gene and the mutant thereof provided by the invention have huge application potential in the aspect of regulating and controlling breeding in a proper flowering period of the corn.

A method of using a DNA alkylating agent prodrug compound-containing single drug or using the single drug and other drugs in combination for treatment of p53 gene mutation or defect negative cancer and tumor patients, and a pharmaceutical use. In particular, the DNA alkylating agent prodrug compound is selected from a hypoxia-activated DNA alkylating agent prodrug compound, an AKR1C3-activated DNA alkylating agent prodrug compound, and a β-D-Glucosidase- or β-galactosidase-activated DNA alkylating agent prodrug compound.

The present invention belongs to the field of aquatic biological breeding, and specifically relates to a method and application of creating germplasm without intermuscular spines of economic fish for breeding. runx2b The economic fish, Megalobrama amblycephala, is gene-edited using a gene as the target gene. F0 generation fish with mutations are selected and cultured as parent fish. The F1 generation is produced by mating and breeding the F0 generation mutant male and female parents. F1 fish without intermuscular spines are screened and cultured to adult fish for use in cultivating a new germplasm of Megalobrama amblycephala without intermuscular spines. The present invention utilizes a gene mutation method to obtain a new germplasm of the economically cultivated fish, Megalobrama amblycephala, without intermuscular spines. This provides an improved method for solving the problem of the significant impact of intermuscular spines in the muscles of important aquacultured economic fish such as silver carp, bighead carp, carp, crucian carp, and bream in my country on their consumption and processing. It also provides a basis for subsequent research on the molecular formation mechanism of intermuscular spines, and has important scientific research value and industrial application value.

Methods for selecting a cancer patient for immunotherapy comprise establishing a total passenger gene mutation burden from a tumor of a cancer patient, generating a background distribution for the mutational burden of the tumor, normalizing the total passenger gene mutation burden against the background distribution, and categorizing the cancer patient as an immunotherapy responder when the total passenger gene mutation burden is greater than the mean of the background distribution. When the cancer patient is an immunotherapy responder, the patient may be administered an immunotherapy regimen that comprises activation / inhibition of T cell receptors that promote T cell activation and / or prolong immune cytolytic activities.

The invention belongs to the technical field of agricultural biology, and particularly relates to a GmGAI7 gene and application of the GmGAI7 gene in soybeans. A jy425 dwarfing mutant is obtained by screening and identifying an EMS (Enhanced Mass Spectrometry) mutagenesis group of JY47 (JY47), then BSA (Bovine Serum Albumin) sequencing analysis and fine positioning are carried out on a filial generation of jy425 * JN18 to find and verify that SNP variation exists at a chr18: 3281001 site of a soybean genome, so that non-synonymous mutation (gTc / gAc) of amino acid occurs, and a molecular marker is developed aiming at the site by a KASP method; meanwhile, it is found that the soybeans are insensitive to gibberellin due to mutation (T-> A) of the GmGAI7 gene, and the plant height of the soybeans is remarkably reduced. Therefore, cognition on ideal plant types of soybeans is widened, important genetic resources are provided for molecular marker-assisted breeding, and the breeding process is more accurate, efficient and controllable.

The invention discloses a multi-dimensional efficacy evaluation system for colon cancer targeted drug screening, and relates to the technical field of medical assistance. Comprising a data acquisition module, an inference engine module and an output module. The data acquisition module acquires an organ sample response data set (including apoptosis rate A1, activity decline degree A2 and image structure change score B1) and a patient background data set (including gene mutation discrete variable set G and metabolic pathway continuous variable set M). The inference engine module executes dominant condition rules: generating a negative weight factor alpha according to a gene mutation state and a metabolic activation threshold value; generating a deduction item gamma based on a preset drug-resistant mutation subset; performing weighted calculation on the apoptosis rate and the activity decline degree to generate a basic drug effect score beta, and increasing beta through a critical value; and finally generating a comprehensive response score S. And the output module outputs a drug effect judgment result according to the S, and multi-dimensional accurate evaluation is realized.

Methods for selecting a cancer patient for immunotherapy comprise establishing a total passenger gene mutation burden from a tumor of a cancer patient, generating a background distribution for the mutational burden of the tumor, normalizing the total passenger gene mutation burden against the background distribution, and categorizing the cancer patient as an immunotherapy responder when the total passenger gene mutation burden is greater than the mean of the background distribution. When the cancer patient is an immunotherapy responder, the patient may be administered an immunotherapy regimen that comprises activation / inhibition of T cell receptors that promote T cell activation and / or prolong immune cytolytic activities.

The invention discloses application of an OsMYB23 gene in improving resistance of rice to ustilaginoidea virens, and belongs to the technical field of gene engineering. The nucleotide sequence of the CDS region of the OsMYB23 gene is as shown in SEQ ID NO. 2. Researches find that the OsMYB23 gene is related to the resistance of rice to the false smut, the over-expression of the OsMYB23 gene significantly reduces the disease resistance of the rice to the false smut, the mutation of the OsMYB23 gene improves the defense capability of the rice to the false smut, and the mutation of the OsMYB23 gene does not influence the normal growth of the rice, so that the OsMYB23 gene of the rice can be used for improving the resistance of the rice to the false smut, and the rice can be used for preparing the rice for preventing and treating the false smut. And a theoretical basis is provided for prevention and control of rice ustilaginoidea virens and diseases caused by the rice

Disclosed in the present invention are a drug-based cancer inhibition sensitivity prediction method and device based on a graph neural network. The method comprises: acquiring a candidate drug and cancer cell line original data; extracting drug information features of the candidate drug, and expanding the drug information features; constructing a drug molecule feature vector according to the drug information features, and constructing a drug adjacency matrix, a node feature matrix, and an edge feature matrix by taking atoms of a drug as nodes and chemical bonds as edges; constructing and iterating a graph neural network model to obtain a drug graph feature; obtaining a drug characterization after the drug graph feature and the drug molecule feature vector are aggregated; acquiring and storing the expression quantities of gene expression, gene mutation, gene methylation and gene copy number, in a cancer cell line, of a gene sequence, and extracting a cancer cell line characterization; and performing feature fusion on the drug characterization and the cancer cell line characterization to obtain a drug-cancer cell line instance pair, inputting the instance pair into a drug-based cancer inhibition sensitivity prediction model, and predicting to obtain an IC50 value of the candidate drug in a cancer cell line environment.

The invention discloses application of a compound containing a PAPR1 degradation agent and a BET inhibitor in preparation of antitumor drugs, and particularly relates to the technical field of biological medicines. The PAPR1 degradation agent is a compound which has tumor selectivity and induces PARP1 degradation based on a CRBN ligand, and pharmaceutically acceptable salts and hydrates thereof. The anti-tumor medicine composition comprises a novel PAPR1 degradation agent and a BET (Brunauer, Emmett and Teller) inhibitor. According to the compound disclosed by the invention, the BET inhibitor JQ1 is used for inhibiting the function of BET protein so as to inhibit DNA repair and influence the DNA damage level, and a strategy for selectively damaging homologous recombination repair of cancer cells is constructed, so that related tumors of non-BRCA gene mutation are sensitive to PARP inhibition, and the clinical application range of PARP targets is effectively expanded; in view of the fact that acquired homologous recombination repair and protein mutation are two most common resistance mechanisms for PARP inhibition, the PARP1 protein is effectively degraded by utilizing PARP1-PROTAC, and the resistance to PARP inhibitor treatment can be overcome.

Described herein is a florigen pathway toolkit that comprises mutations in genes in the florigen pathway in Solanaceae, such as mutations in genes in the florigen pathway in tomatoes, that are useful to quantitatively modulate or adjust the balance of opposing flowering signals to customize and improve shoot architecture and flowering (flowering time) for tomato breeding, particularly for fresh market tomato breeding.

The invention provides an instruction data matching experiment method, system and device and a storage medium, and belongs to the technical field of artificial intelligence, and the method comprises the steps: determining each data set participating in the fine tuning of a large model, setting the parameters of a genetic algorithm, and randomly generating an initial population; each individual in the initial population is used for fine tuning training of a large model; evaluating the large model after fine tuning training to obtain a fitness value corresponding to each individual; selecting an individual with the highest fitness value for generating a next-generation population; pairing the selected individuals, and performing crossover operation according to a set crossover probability; performing gene variation on newly generated individuals according to a set variation probability to generate a new generation of population; and replacing the current population with a new generation of population generated through genetic manipulation, repeatedly executing the steps until a set termination condition is reached, and outputting an individual with the highest fitness value in the new generation of population to obtain an optimal matching scheme. The data matching efficiency is improved, and the labor cost is reduced.

The invention discloses a method and a device for constructing a cancer early screening model based on cfDNA difference statistics. The construction method of the cancer early screening model comprises the following steps: performing difference statistics on tumor-derived cfDNA and healthy individual-derived cfDNA in a low-depth whole-genome sequencing mode, and establishing the cancer early screening model to realize non-invasive early screening of cancers; the difference statistics comprises cfDNA fragment size characteristic difference statistics, cfDNA upstream and downstream continuous three groups of 3bp base combination category distribution frequency change trend difference statistics at a fracture position and sequencing data coverage depth mode difference statistics of the cfDNA near TSS. The method has the advantages of being minimally invasive, high in early diagnosis sensitivity, capable of achieving dynamic monitoring and the like, the limitation of cfDNA gene mutation detection in the early stage of the tumor is overcome, and information lag or deletion caused by tumor heterogeneity is avoided.

The invention belongs to the technical field of molecular biology, and particularly relates to application of an OsSCL25 gene in regulating and controlling salt stress resistance of rice. Under the stress of salt, the survival rate, chlorophyll, fresh weight and dry weight of strain seedlings of the overexpressed OsSCL25 gene are higher than those of a wild type, the content of superoxide dismutase, peroxidase and malondialdehyde is lower than that of the wild type, and the content of proline is remarkably higher than that of the wild type and a mutant. The soluble sugar content of the wild type, the soluble sugar content of the OsSCL25 mutant and the soluble sugar content of the overexpression system are not obviously different under normal treatment, and the soluble sugar content of the overexpression system is obviously higher than that of the wild type and the soluble sugar content of the gene mutant after salt stress, so that the OsSCL25 gene participates in rice salt tolerance regulation. After the gene is over-expressed, the salt tolerance of the rice is obviously improved, so that a rice material suitable for saline-alkali soil planting improvement can be cultivated by utilizing the OsSCL25 through a biotechnology, and a new thought is provided for improving the planting rate of the rice in the saline-alkali soil.

The invention discloses a gene ZmKO1 for regulating flowering and pollination of corn male flower spikelet and application of the gene ZmKO1 in corn male sterility hybrid seed production, and belongs to the field of plant genetic engineering. The invention provides a gene ZmKO1 for regulating and controlling flowering and pollination of maize male flower spikelet, and the phenomenon of nuclear male sterility can be caused by mutation of the gene ZmKO1. It is also clear that on the basis of the ZmKO1 gene locus, a CRISPR-Cas9 technology or a mutant gene backcross transformation technology is utilized, and cultivation of the maize nuclear male sterile line can be achieved. The invention also finds that in the spinning period of the sterile line, the male flower fertility of the sterile line can be recovered by spraying exogenous gibberellin to tassels, normal selfing propagation can be realized, and the sterile line can be economically and efficiently maintained as a maintainer line. Therefore, the cell nucleus male sterile line created based on the ZmKO1 gene locus has the characteristic of dual purposes and can be used for maize male sterility hybrid seed production, and the invention also provides a technical system for realizing maize two-line method sterile hybrid seed production by utilizing ZmKO1 gene mutation.

The invention relates to the technical field of crop genetic breeding, and particularly discloses a rice OsNRAMP5 gene mutant and application thereof. According to the rice OsNRAMP5 gene mutant, a wild rice OsNRAMP5 gene coding sequence is used as a reference sequence, and the mutant comprises mutations that the 804th G base is mutated into A, the 806th to 952nd bases are deleted and / or the 984th T base is mutated into C. The invention provides a novel rice two-line sterile line cadmium low-accumulation mutant, which enriches low-cadmium accumulation related genes and related mutants, and provides a novel method for creating low-cadmium accumulation rice two-line sterile line germplasm.

The invention relates to the technical field of microfluidics and digital PCR detection, and discloses a microfluidic chip for centrifugal droplet generation and a digital PCR detection method.The microfluidic chip comprises a sealed cavity formed by a bottom plate and a cover plate, a through hole is formed in the center of the chip and used for being fixed to centrifugal equipment, the core structure of the chip is a droplet generation component, and the droplet generation component is arranged in the cavity. Comprising a sample adding cavity, a micro-nozzle array and a liquid drop collecting cavity, a sample is driven by centrifugal force to generate nano-liter-scale'water-in-oil 'liquid drops through micro-nozzles, the chip is used for digital PCR reaction, each liquid drop serves as an independent reaction unit to improve detection sensitivity and precision, the chip is suitable for detection of low-abundance gene mutation, and by combining Taqman-MGB probe or other molecule detection technologies, the detection sensitivity and accuracy are improved. The chip can efficiently detect mutation types of EGFR genes, including EGFR-T790M mutation, has a wide clinical application prospect, provides a high-throughput and high-precision droplet generation method, and is suitable for application scenarios of digital PCR, single cell analysis and other microfluidic technologies.

The invention discloses a preparation method of CsPHT1; the invention discloses modification of selenium element absorbed by tea and application of the gene 3 to feed, and relates to the field of agricultural gene engineering. CsPHT1 (CsPHT1); the gene 3 is GenBank: OP219455.1, gene mutation of D144K and T150V is carried out on the gene 3, and the amino acid sequence after mutation is shown as SEQ ID No: 01; tea tree CsPHT1; 3, the cultivation of D144K and T150V gene mutation seedlings is improved by the gene. The new variety cultivated by the invention can improve the selenium content and the oxidation resistance of the selenized tea polysaccharide without being influenced by the change of pH 5-7; the selenium-supplementing feed is obtained by mixing the high-selenium tea leaves with the feed, and the requirements of the current high-end feed market are met.

The invention provides a molecular marker and a breeding method for breeding the eggshell color of a Liuyang black-bone chicken, and particularly relates to the field of molecular breeding. The invention finds that a missense mutation (C21R) in the ABCG2 gene is associated with the eggshell color variation of the Liuyang black-bone chicken brown shell egg, so that the ABCG2 gene can be used for molecular-assisted breeding of the eggshell color of the Liuyang black-bone chicken brown shell egg. The C21R is a missense mutation occurring on the 21th cysteine of ABCG2 protein, and the C21R is a missense mutation occurring on the 21th cysteine of ABCG2 protein; c, causing. According to the breeding method, the genotype of the C21R locus of an individual to be detected is detected through PCR (Polymerase Chain Reaction) amplification and Sanger sequencing. According to a detection result, CC type individuals are selected and reserved for breeding, and a new black-bone chicken strain capable of laying deep brown shell eggs can be bred in an auxiliary mode; tT type individuals are selected and reserved for breeding, and the new black-bone chicken strain capable of producing light brown shell eggs can be bred in an auxiliary mode. The method provided by the invention solves the problem of inconsistent egg color caused by gene mutation of the existing Liuyang black-bone chickens, can greatly shorten the breeding time of a new black-bone chicken strain for laying eggs with specific brown shell color, and reduces the breeding cost.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an oocyte occurrence and maturation disorder detection panel, a detection kit and application thereof, and the detection panel comprises mutation genes related to the oocyte occurrence and maturation disorder for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, by detecting high-risk genes and mutation sites, the risk of occurrence and maturation disorder of the oocytes is predicted in combination with clinic, the development potential of the oocytes is evaluated, the in-vitro maturation strategy is optimized, and the clinical outcome of assisted reproduction is improved. The detection panel can be used for efficiently detecting gene mutation which has clinical diagnosis and treatment significance on oocyte occurrence and maturation disorders; the method has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention measures of patients suffering from recurrent oocyte occurrence disorder, oocyte maturation disorder and low oocyte maturation rate and patients to be subjected to assisted reproduction technology treatment.

The invention discloses a composition for detecting benign and malignant thyroid nodules and a detection method thereof, and relates to the technical field of medical detection, the composition comprises the following components: a DNA / RNA extraction reagent and a fluorescent quantitative PCR reagent; by combining the DNA / RNA extraction reagent and the fluorescent quantitative PCR reagent, nucleic acid can be efficiently and accurately extracted from the thyroid nodule fine needle puncture sample, specific gene mutation and gene fusion are detected through the fluorescent quantitative PCR technology, the accuracy and sensitivity of benign and malignant judgment of the thyroid nodule are remarkably improved, and the method is suitable for clinical application. And a doctor can formulate a treatment scheme earlier and more accurately, and the prognosis of a patient is improved.

The invention provides a construction method of an Alport syndrome animal model, a kit and application of the kit, and relates to the technical field of biology. The animal model construction method comprises the following steps: enabling a COL4A5 gene of a tested animal to generate COL4A5-c.1517-1Ggt corresponding to an Alport syndrome patient; t mutation. According to the model construction method, the problem that in the prior art, COL4A5 gene mutation type Alport syndrome animal models are deficient is solved.