870 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 belongs to the technical field of histopathology full-slice image analysis, and relates to a gene mutation prediction method and system based on a pathological report and full-slice cross-modal representation learning, and the method comprises the steps: obtaining a histopathology full-slice image and a data set of a corresponding pathological and molecular detection report, and carrying out the preprocessing and coding; performing word segmentation and feature extraction on the pathological diagnosis report and the molecular detection report; cross-modal representation learning is realized through reconstruction of pathological report features and comparative learning based on a category refinement queue; designing a loss function and training the model offline by using a sample data set with a label; and performing lung cancer gene mutation prediction on the histopathology full-slice image by using the trained model. According to the method, the defects that detailed annotations of histopathology full-slice image data are difficult to obtain and the single-modal information expression ability is insufficient can be overcome, and slice image level mutation tag classification is effectively completed by using a cross-modal information guide weak supervision method of a pathological report and a molecular detection report.

The invention discloses a breeding method of large-seed and high-oil type brassica napus L. The disclosed method comprises the following steps: knocking out a BnaWIP2 gene in brassica napus L., so that the BnaWIP2 gene is mutated to obtain the large-seed and high-oil type brassica napus L.. According to the method, six copies of the BnaWIP2 gene are knocked out at the same time, the large-seed and high-oil brassica napus CRISPR / Cas9 gene editing material is obtained, and the gene editing material provides precious gene resources and germplasm resources for breeding of high-oil and high-yield brassica napus varieties.

The invention discloses a method for constructing a Ddx58-R109C point mutation mouse model by using a CRISPR / Cas9 gene editing technology and an application of the Ddx58-R109C point mutation mouse model. The method comprises the following steps: (1) target construction: searching a CDS region of a Ddx58 gene, determining an exon part, and determining a gene mutation site; (2) obtaining a fertilized egg, and injecting Cas9mRNA, gRNA and donor oligo into the fertilized egg of the C57BL / 6J mouse together in vitro through a microinjection technology to obtain an F0-generation hybrid mouse; (3) mating the F0-generation hybrid mouse with the wild type mouse to obtain an F1-generation mouse; (4) the F1-generation heterozygous mice which are identified to be positive are subjected to mating, and homozygous Ddx58-R109C mutant type and wild type mice can be obtained by breeding obtained offspring; (5) phenotypic analysis shows that Ddx58-R109C point mutation mice can have pathological changes of systemic lupus erythematosus and lupus nephritis; the invention can provide an effective research approach and method for researchers to deeply explore the action mechanism of Ddx58-R109C mutation in diseases, and has important significance for explaining the pathogenesis of systemic lupus erythematosus and researching and developing targeted therapeutic drugs.

The invention discloses application of an MDH2 inhibitor in preparation of a preparation for reducing toxicity of fumonisins, and belongs to the technical field of biology. A fumonisins treatment experiment is carried out on MDH2 gene mutant cells and wild type MDH2 gene cells, and the result shows that the cell activity of the MDH2 gene mutant cells is remarkably improved by 15.2% compared with that of wild type MDH2 gene expression cells under the condition that the fumonisins concentration is 100 micrograms / mL, the cell apoptosis rate is remarkably reduced by 7.76%, and the cell apoptosis rate can be reduced by 7.76%. Therefore, the MDH2 gene mutation can improve the tolerance to the fumonisins. In addition, the LW6 inhibitor is used for inhibiting the MDH2 activity of the wild type IPEC-J2 cell, and the tolerance of the cell to the fumonisins can also be improved. The invention provides a potential solution way for preventing adverse reaction caused by fumonisins, and provides a theoretical basis for preventing and controlling harm of FB1 to food and animal husbandry.

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.

The invention discloses pegRNA of a targeted TRPV4 gene, a pilot editing system and application of the pegRNA and the pilot editing system. Specifically, the invention discloses pegRNA which comprises sgRNA, an RT template and a primer binding site, and the nucleotide sequence of the RT template is 108th to 121st sites of SEQ ID No.2. And the nucleotide sequence of the pegRNA is SEQ ID No. 2. The invention further discloses a pilot editing system and an editing method for repairing the TRPV4 gene V342F mutation. The screened specific pegRNA and a pilot editing system can efficiently realize correction of the TRPV4 gene, the purpose of repairing V342F mutation of the TRPV4 gene of the Scottian folding cat is achieved, fewer by-products are obtained, the highest editing efficiency can reach 41%, and the Scottian folding cat has important clinical value and application prospects in treatment of osteochondral dysplasia of the Scottian folding cat.

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.

The invention discloses an SNP molecular marker related to dry and wet environment adaptability of sheep and application of the SNP molecular marker, and belongs to the field of molecular biology. The SNP molecular marker related to the humid environment adaptability of the sheep is located in an intron region of a BMPR1B gene, the gene mutation of the site significantly affects the sheep, and when the genotype of the site is AA, the sheep is the sheep with dry environment adaptability; when the genotype of the locus is GG, the locus is a sheep adaptive to a humid environment, so that a new molecular breeding marker is provided for screening or introducing the sheep adaptive to the humid environment.

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 invention discloses a construction method and application of a gastric adenocarcinoma transgenic mouse model, and the construction method comprises the following steps: overexpressing or increasing the MYC gene expression quantity or MYC protein activity in gastric mucosa epithelial cells of a mouse by using transgenosis and hybridization technologies, and activating KRAS gene mutation in the gastric mucosa epithelial cells at the same time, thereby obtaining the gastric adenocarcinoma transgenic mouse model. The Kras protein is abnormal in function and is continuously in an activated state, and the finally obtained mouse is the gastric adenocarcinoma transgenic mouse model. According to the invention, the Myc gene overexpression and KRAS activation mutation double-gene mutation mouse spontaneous gastric cancer animal model is constructed, and the method is simpler. The gastric cancer tumor formation time of the mouse model is shortened, the tumor formation rate is up to 100%, and the tumor formation effect is stable. Only tumor formation is performed in the stomach through induction, and tumor formation has high specificity. The animal model is determined to be adenocarcinoma in gastric cancer through pathological section and immunohistochemical staining, has good clinical representativeness, and can be applied to later development or screening of gastric cancer drugs.

The invention discloses a primer composition and application thereof. According to the invention, a group of primer compositions is obtained aiming at mycobacterium tuberculosis complex group identification and drug resistance related genes thereof. The primer composition can be combined with nucleic acid matrix-assisted laser desorption ionization time-of-flight mass spectrometry to detect a mycobacterium tuberculosis complex group, and can also detect the mutation conditions of 18 drug-resistant genes and 92 gene mutations related to drug resistance of 21 common first-line and second-line antituberculous drugs / types in the mycobacterium tuberculosis complex group. The medication is guided. Based on a MassARRAY technical platform, the primer composition has the advantages of good accuracy, high sensitivity, short required time and high efficiency when being used for detecting the mycobacterium tuberculosis complex group and the drug resistance thereof, is suitable for various sample types, can meet clinical detection requirements, is beneficial to clinical diagnosis and medication guidance of mycobacterium tuberculosis, and realizes precise treatment of pulmonary tuberculosis.

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 discloses a medicine for treating tumors containing TP53 gene mutation. The medicine comprises a thymine DNA (Deoxyribose Nucleic Acid) glycosylase (TDG for short) inhibitor and pharmaceutically acceptable auxiliary components of the thymine DNA glycosylase (TDG for short) inhibitor. The TDG inhibitor used in the invention can effectively inhibit human TDG protein expression, and has a good treatment effect on TP53 gene mutation-containing tumors.

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 present disclosure discloses a method for using plant heterosis. The method comprises the following steps: S1, transforming the meiosis of germ cells of hybrids into mitosis-like so as to obtain gametes whose genotype and chromosome ploidy are consistent with hybrids by using gene mutation or gene engineering technology; and S2, influencing and involving in the development of gametes or embryos in plants by using gene mutation and gene engineering technology, wherein a protein involved is MTL protein.

The invention discloses a mitochondrial genome variation screening and automatic guide annotation platform, and a platform processor is configured to realize the following steps: data quality control: performing quality control on gene sequencing offline data to obtain a high-quality sequence; comparing data, namely comparing a high-quality sequence obtained after quality control to a human mitochondrial genome; re-comparing the data, and locally re-comparing the sequence of the region near the indel on the human mitochondrial genome; and mutation detection: carrying out gene mutation detection on the re-compared sequence. Mutation filtering: filtering gene mutation according to mutation frequency, sequencing depth and mutation reads number; mutation annotation: annotating the filtered gene mutation, and filtering the gene mutation again according to an annotation result after annotation of the gene mutation is completed. And quality control analysis: carrying out statistical analysis on data quality control according to the data volume, the comparison rate, the insert size and / or the coverage uniformity index.

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 the technical field of gene sequencing, in particular to a gene sequencing data processing method and system. The method comprises the following steps: acquiring a crop sample data set, and performing sample cell disruption and gene sequencing to obtain cell gene sequence data of crops; performing variation analysis on the gene sequence data, dividing the gene sequence data into a gene mutation sequence and gene sequence deletion data, further performing gene expression disorder analysis, and predicting disease resistance attenuation and character change; the analysis result is stored in a gene storage database, so that storage and query of gene expression character change data are realized; differential expression analysis is carried out on a crop character change storage database, gene abnormality of crops is detected, and finally improved crop gene data is obtained through a crop gene quality improvement method. According to the invention, through sequencing optimization of crop genes, prediction of gene mutation is more accurate.