271 results about "Gene mutation" patented technology

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 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.

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

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 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.

According to the wireless network intelligent optimization deployment method and system disclosed by the invention, the network deployment strategy is issued to the edge node, so that the calculation amount of the integrated controller is reduced, and the optimization efficiency of the network deployment strategy is improved; besides, strategy chromosomes are evolved through a double-variation mechanism, and a dynamically changing gene mutation probability and an environment evolution range are introduced, so that the algorithm can quickly jump out of a local optimal solution, dynamically track and adapt to the change of a network environment, and the convergence speed of the evolutionary algorithm is remarkably improved; and finally, analyzing the strategy chromosome according to the network state data, and determining an optimized deployment strategy. According to the method, the overall overhead and delay of a network deployment strategy are remarkably reduced, and the efficiency is improved.

The invention discloses a joint detection kit for genetic risk genes and medication genes of Alzheimer's disease and a multivariable risk assessment model. The kit comprises a detection reagent for detecting 25 mutation sites of 15 genes, wherein the 25 mutation sites of the 15 genes comprise 17 mutation sites of 10 risk genes and 10 mutation sites of 6 medication genes. Amplification primer pairs and single-base extension primers of each site are designed for 25 mutation sites of 15 genes, multiple PCR amplification and single-base extension reactions are carried out, and the genotype of each site of a product is analyzed by using matrix-assisted laser desorption ionization time-of-flight mass spectrometry. A multivariable risk assessment model for the Alzheimer's disease is constructed by taking a genetic risk score GRS, age, gender and plasma p-tau217 concentration of a risk gene mutation site as markers, one-stop detection of'early screening and medication guidance 'can be realized in combination with a medication gene detection result, and the application prospect and demand are broad.

The invention provides a novel therapeutic drug for treating Prom1 related retinal diseases. Specifically, the invention provides an optimized Prom1 gene expression cassette, an rAAV virus vector and a gene therapy drug. The medicine provided by the invention can specifically express the PROM1 protein in a retina photoreceptor layer, and is suitable for clinical application to treatment of Prom1 gene mutation related retinal diseases.

The invention discloses an acute myelogenous leukemia prognosis prediction method and device based on multi-omics fusion, and the method comprises the steps: collecting and preprocessing gene mutation data and gene expression data to construct a data set; constructing an acute myelogenous leukemia prognosis prediction model, and training by using the data set; inputting the preprocessed gene mutation data and gene expression data as genomics data and transcriptomics data into the trained prediction model to obtain a risk score of prognosis prediction; wherein the two shared encoders in the model share part of parameters, two modal features extracted by the two shared encoders are subjected to CLIP-based feature alignment, and features extracted by the private encoder and the shared encoder of each modal are subjected to feature decoupling. According to the method, complementarity and synergy of genomics and transcriptomics data are fully mined through a layered feature decoupling and dynamic fusion mechanism, and the prognosis prediction accuracy of the acute myelogenous leukemia patient is improved.

This invention relates to talazoparib, or a pharmaceutically acceptable salt thereof, in combination with enzalutamide, or a pharmaceutically acceptable salt thereof, for the treatment of homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer and methods of increasing overall survival thereof.

This invention relates to the field of organoid disease models, and discloses a method for constructing a human brain organoid model of early-onset Alzheimer's disease (AD) and its applications. This invention introduces [a specific technology] into human embryonic stem cell lines through single-base editing and lead editing techniques. PSEN1 ΔE9、 PSEN1 M146V and APP Human embryonic stem cell lines carrying four familial pathogenic gene mutations (K670N and M671L) were constructed and induced to differentiate into Alzheimer's disease (AD) brain organoids. The AD brain organoid model established by this invention exhibited tau phosphorylation pathological phenotypes as early as 20 days and Aβ-related phenotypes as early as 40 days, with increased total Aβ, decreased Aβ42 / Aβ40 ratio, and simultaneous aggravation of Aβ-Tau pathology. This represents a complex neurodegenerative pathological model where multiple mutations synergistically regulate Aβ production and tau phosphorylation, which is highly valuable for understanding and studying early-onset familial AD. This invention provides a human brain organoid model for in vitro AD studies and offers a tool for studying the pathological mechanisms of AD and screening drugs.

The invention belongs to the technical field of molecular markers, and particularly relates to an SNP molecular marker for high-quality protein waxy corn and application of the SNP molecular marker. The SNP molecular marker is closely linked with functional mutation of a high-quality protein corn o2 gene, and a non-synonymous mutation site base of the SNP molecular marker site is T / C and is located on a corn gene Zm00001d018971. According to the SNP molecular marker developed on the basis of o2 gene mutation sites, Zm00001d018971 variant and wild type alleles can be distinguished specifically and highly sensitively, and a pair of specific primer groups capable of amplifying the SNP molecular marker is provided. The o2 mutant corn sample can be quickly, efficiently and accurately identified only by performing PCR amplification on the corn plant by using the specific primer group disclosed by the invention, lossless and accurate genotype identification in the seedling stage is realized, and reliable and low-cost technical support can be provided for efficient and large-scale breeding of high-quality protein corn.

This invention discloses the application of alismazone B acetate in the preparation of drugs for the prevention or treatment of hypertrophic cardiomyopathy and its related symptoms. This invention is the first to propose the use of alismazone B acetate (AB23a) for the prevention or treatment of hypertrophic cardiomyopathy. The invention utilizes AB23a to directly treat cardiomyocytes obtained from directed differentiation of human embryonic stem cells in vitro, finding that AB23a treatment significantly inhibits the hypertrophic phenotype of human embryonic stem cell-cardiomyocytes. Feeding mice with hereditary hypertrophic cardiomyopathy caused by gene mutations to a diet containing AB23a showed that AB23a significantly alleviated pathological myocardial hypertrophy and improved cardiac function in mice. AB23a can be used to prepare drugs against hereditary hypertrophic cardiomyopathy, providing a new approach and method for treating hypertrophic cardiomyopathy. AB23a is the most important medicinal component of the traditional Chinese medicine Alisma plantago-aquatica, is safe for organisms, and has good clinical application prospects.

The present invention relates to the use of compounds of formula (I) as RAS inhibitors and as a medicament, in particular for use in treating proliferative disorders, inflammatory diseases and / or genetic disorders. The present invention relates further to a pharmaceutical composition comprising the compounds of formula (I). Moreover, the present invention relates to a method of inhibiting growth, proliferation or metastasis of cancer cells in a subject in need thereof, in particular which may encompass subsets of patients defined by their mutational status of the RAS oncogene or patients who might have developed resistance to the standard of care or treatment with RAS mutation specific inhibitors. The present invention also relates to a method of inhibiting RAS molecules in treating genetic disorders like RASopathies or inflammatory disorders like Adenomyosis where KRAS gene is mutationally activated. In addition, the present invention relates to a method of inhibiting proliferation and or secretion of factors from a cell population sensitive towards inhibiting RAS activation in vitro, in particular sensitive towards inhibiting KRAS. HRAS and NRAS activation in vitro. Furthermore, the present invention relates to a kit containing a formulation comprising a pharmaceutical composition comprising a compound of formula (I).

The invention is applicable to the technical field of molecular biology, and provides a mutant gene, a mutant, a transformant and a genetic transformation plant of tobacco deoxycarboxy-putrescine lysine synthase and application of the mutant gene, the mutant, the transformant and the genetic transformation plant of the tobacco deoxycarboxy-putrescine lysine synthase of the tobacco deoxycarboxy-putrescine lysine synthase of the tobacco deoxycarboxy-putrescine lysine synthase. The nucleotide sequence of the mutant gene is shown as SEQ ID NO.2 in a sequence table. After the gene is mutated, a mutant strain shows the phenotype of white veins, and various nutrients are greatly changed. According to the mutant gene of the tobacco deoxycarboxamide lysine synthase provided by the invention, by detecting the mutant and comparing the potassium content in tobacco leaves, the result shows that the mutant gene of the tobacco deoxycarboxamide lysine synthase can improve the potassium content in the tobacco leaves. Therefore, a better choice is provided for genetic improvement of new plant varieties, and the gene has important application value.

The application discloses application of BoDMR1 and BoDMR6 genes in cultivating disease-resistant broccoli varieties, an expression vector and a cultivating method, and relates to the technical field of plant molecular biology. A nucleotide sequence of a broccoli BoDMR1 gene is shown in SEQ ID No: 7, or a nucleotide after gene mutation of the nucleotide sequence shown in SEQ ID No: 7; and a nucleotide sequence of a broccoli BoDMR6 gene is shown in SEQ ID No: 8, or a nucleotide after gene mutation of the nucleotide sequence shown in SEQ ID No: 8. Through gene editing on endogenous BoDMR1 and / or BoDMR6 genes of plants, mutant plants showing resistance to diseases such as sclerotinia, black rot and alternaria blight can be obtained. Therefore, the application is beneficial to providing good resources for cultivating disease-resistant broccoli varieties.

The invention belongs to the field of plant engineering technology and crop germplasm resource innovation, and particularly relates to a rice BEIIb gene mutant, application of the rice BEIIb gene mutant in improving rice resistant starch and an improving method. A mutant material with high resistant starch content is created by knocking out the rice BEIIb gene, and compared with a wild type, mutant seeds show an obvious chalky phenotype, composite starch particles are abnormal in a spherical or ellipsoidal shape, the amylose content is remarkably increased, the protein content is remarkably reduced, the resistant starch content is remarkably increased, and the resistant starch content is remarkably reduced. The hardness of cooked rice is remarkably increased, and the elasticity is remarkably reduced. Through transcriptomics analysis, the protein mainly participates in biological pathways such as carbohydrate metabolism, chloroplast photosynthesis, calmodulin combination and secondary metabolite synthesis, and the expression level of endosperm starch synthesis related genes is obviously changed. The method can provide theoretical basis and method reference for breeding of high-quality rice varieties with high resistant starch.

The invention relates to the technical field of medical treatment, and discloses a lung cancer personalized treatment scheme recommendation method and system and a storage medium. The method comprises the following steps: acquiring clinical and molecular indexes of a patient, and constructing a simplified feature set; distributing weights for treatment targets according to the simplified feature set, constructing and optimizing a scheme evaluation matrix, and generating a preliminary scheme sorting list; through threshold screening and patient feature matching degree verification, a verified scheme set is obtained; the schemes are classified based on gene mutation and driver gene features, and classified optimization scheme subsets are obtained; constructing an interaction model to analyze interaction influence of toxic and side effects and life quality on curative effects, and dynamically adjusting scheme scores; and if the score is lower than a threshold value, triggering iterative optimization, obtaining a scheme list after iteration, and further determining an optimal treatment scheme according to treatment collaboration and target balance. According to the method, intelligent and closed-loop optimization from multi-source data to personalized treatment decision is realized, and the personalization and accuracy of a treatment scheme are improved.

This invention provides a gene related to the glossy leaf trait in Rugao black cabbage and its application, belonging to the field of molecular genetics and breeding technology. Specifically, this invention identifies the gene controlling the glossy leaf trait in 'Rugao black cabbage', confirms that this trait is controlled by a single dominant gene, and successfully locates the candidate gene. BraA02g02617P This study confirmed the association between the gene mutation and the glossy leaf trait. The discovery of the new dominant gene controlling glossy leaves greatly improves the convenience of molecular breeding of cruciferous plants, especially Brassica species, and has promising application prospects.

The invention belongs to the field of medical diagnosis, and particularly relates to adolescent idiopathic scoliosis disease-causing gene mutation and a diagnostic reagent based on the adolescent idiopathic scoliosis disease-causing gene mutation, and it is found for the first time that the adolescent idiopathic scoliosis disease can be caused by GPER1 gene mutation (chr7: 1, 091, 747Ggt, C, hg38) through an exon sequencing technology. Research results of the invention can be used for early screening of adolescent idiopathic scoliosis virulence gene mutation carriers to provide prenatal and postnatal rearing guidance on one hand, and can provide molecular diagnosis basis for adolescent idiopathic scoliosis patients on the other hand to provide a new direction for research and development of related scientific research and medical diagnosis products on the other hand, so that the research and development of the adolescent idiopathic scoliosis virulence gene mutation carriers can be promoted. Wide application prospects and market values are realized.

The invention discloses an application of a TaERF9 gene in cooperation with histone modification to participate in nitrogen-mediated root development. The homologous genes of three subgenomes of the TaERF9 gene respectively correspond to the GenBank numbers of CM022223.1, CM022224.1 and CM022225.1 in NCBI (National Center of Biotechnology Information). According to the invention, wheat KN199 is directionally edited by using a CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-associated protein 9) technology, so that a mutant plant with TaERF9 function deletion is obtained. Protein interaction experiments prove that the TaERF9 can interact with the subunit SWN of the PRC2. The results of high-nitrogen and low-nitrogen water culture experiments show that TaERF9 gene mutation significantly promotes root development under a high-nitrogen condition; under the low-nitrogen condition, the root development of the mutant is kept similar to that of a wild type, the ability of balancing the root development under different nitrogen supply conditions is shown, and the effect of the TaERF9 gene in nitrogen response mediated root development regulation is revealed. That is to say, the TaERF9 gene can promote root development after mutation, so that a gene resource is provided for nitrogen-efficient breeding of crops.

The present application relates to the technical field of gene detection, in particular to a primer probe combination for detecting Alzheimer's disease, a product and application thereof. The primer probe combination and kit provided by the present application can simultaneously detect Alzheimer's disease gene mutation and methylation, can effectively distinguish Alzheimer's disease patients from non-Alzheimer's disease subjects, realize low-invasive, low-cost, high-sensitivity, high-specificity detection of Alzheimer's disease, the total sensitivity of the blood sample for detecting Alzheimer's disease can reach 88.89%, the specificity of the blood sample for detecting non-Alzheimer's disease can reach 95.74%, the detection probability of false negative results can be reduced, and the detection accuracy is high.

The present application belongs to the field of microbial metabolic engineering and synthetic biology technology application, in particular to a high methanol tolerance yeast chassis strain, a high 3-hydroxypropionic acid yield engineering bacterium and application. The high methanol tolerance yeast chassis strain takes wild type Pichia pastoris or fatty acid producing Pichia pastoris as a starting strain, is modified according to at least one of the following conditions (a)-(h), and a high methanol tolerance strain is obtained, wherein (a) MIOX gene knockout; (b) DMA2 gene knockout; (c) MET17 gene knockout; (d) BUB2 gene knockout; (e) CLB4 gene knockout; (f) UBP12 gene knockout; (g) ZFP gene knockout; (h) AOX1 gene mutation. The high methanol tolerance yeast chassis strain is further modified to obtain a high 3-hydroxypropionic acid yield engineering bacterium. The present application combines rational and non-rational metabolic engineering strategies, realizes efficient biosynthesis of fatty acids and 3-hydroxypropionic acid with methanol as the only carbon source, and lays an important foundation for low-carbon green biological manufacturing of chemicals.

An NCg12747 gene mutant and the use thereof in the preparation of L-lysine are provided. The NCg12747 gene mutant is a DNA molecule shown in SEQ ID NO: 3, which encodes the NCg12747 mutant protein shown in SEQ ID NO: 4. Mutating the NCg12747 gene into the NCg12747 gene mutant shown in SEQ ID NO: 3 or overexpressing NCg12747 gene mutant contributes to increase in the yield and the growth rate of L-lysine. However, when the gene is weakened or knocked out, accumulation of the L-lysine is not facilitated, and the growth rate of a strain can be reduced. The NCg12747 gene mutant and the NCg12747 mutant protein encoded thereby can be used for preparing L-lysine.

The present invention provides a TCR targeting a KIT D816Y mutation-derived neoantigen, a nucleic acid molecule comprising a nucleotide sequence encoding the TCR or a complementary sequence thereof, a vector containing the nucleic acid molecule, and a cell transduced with the nucleic acid molecule or the vector, as well as a pharmaceutical composition comprising the TCR, nucleic acid molecule, vector or cell as an active ingredient, and use of the TCR, nucleic acid molecule, vector, cell and pharmaceutical composition in detecting, preventing and / or treating cancers associated with KIT D816Y gene mutation-derived neoantigens.

The invention relates to the field of agricultural pest drug resistance detection, and provides a detection primer and method for chilo suppressalis ryanodine receptor I4758M mutation and application. According to the detection primer, a mutation recognition site is designed at the 3'tail end of an inner primer BIP, specific detection is achieved through the key base difference (A / G) of a wild type and a mutant type, and the primer group comprises an outer primer pair F3 / B3, an inner primer pair FIP / BIP and a loop primer pair LoopF / LoopB; the detection method is based on loop-mediated isothermal amplification (LAMP), the genotype is visually interpreted through color change of reaction liquid, a thermal cycler is not needed, and the detection method has the advantages of being high in accuracy and sensitivity, easy to operate, low in cost and the like. The matched kit comprises a rapid DNA extraction assembly and is suitable for field on-site detection. The gene mutation frequency of the specific site of the chilo suppressalis can be rapidly detected, and the technical support is provided for resistance monitoring, early warning and scientific treatment of bisamide insecticides.

The invention belongs to the technical field of gene engineering, and particularly relates to a mutant CYP82e5-2 of a cigar CYP82E5 gene and application of the mutant CYP82e5-2. The nucleotide sequence of the mutant CYP82e5-2 is as shown in SEQ ID NO: 2; the mutant CYP82e5-2 is obtained by changing the 505th nucleotide of a cigar CYP82E5 gene of which the nucleotide sequence is shown as SEQ ID NO: 1 into T from C. The amino acid sequence coded by the mutant CYP82e5-2 is as shown in SEQ ID NO: 4. The cigar CYP82E5 gene mutant (mutant CYP82e5-2) provided by the invention can obviously reduce the conversion rate of nicotine in cigars, and can be used for creating cigar materials with low nicotine conversion rate. Tests prove that compared with tobacco leaves containing wild type genes, tobacco leaves containing the cigar CYP82E5 gene mutant have the advantage that the nicotine conversion rate is reduced by 48%.

The invention relates to the technical field of helicobacter pylori multi-drug-resistant gene detection, and discloses a paper sensor-based helicobacter pylori multi-drug-resistant gene detection and treatment quantitative monitoring kit, which comprises an isothermal amplification module, which comprises a loop-mediated isothermal amplification reaction system and is used for carrying out isothermal amplification on 23S rRNA gene and rdxA gene of helicobacter pylori; the paper sensor module comprises a nitrocellulose membrane, the nitrocellulose membrane comprises a test area and a control area, a biotin labeled probe aiming at 23S rRNA gene and rdxA gene mutant amplification products is fixed in the test area, and a biotin labeled probe aiming at reference gene cgt amplification products is fixed in the control area; and the color development module is used for performing color development and quantitative analysis on the detection result of the paper sensor module. The kit disclosed by the invention can be used for detecting various helicobacter pylori multi-drug-resistant genes, can be used for quantitatively monitoring, and is rapid and convenient to monitor.

A method of direct transdifferentiation of somatic cells into other somatic cells may be convenient and still have good reproducibility, excellent production efficiency, and short performed time. Methods for direct transdifferentiation of somatic cells into other somatic cells may include: (a) introducing a GLIS family gene, a mutated GLIS family gene or a gene product thereof into somatic cells; and (b) culturing the gene-introduced somatic cells in a culture medium containing a component that induces differentiation of the somatic cells or precursor cells of the somatic cells into other somatic cells.