153 results about "Gene mutation" patented technology

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

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 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 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.

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.

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.

This invention discloses an anti-phage system based on ESCRT-III and its applications, relating to the field of biotechnology. This invention utilizes the coding genes for two structural proteins of the Hoda_Snf7_1 and Hoda_Snf7_2 from the Hoda archaea ESCRT-III. Hoda_ snf7_1 and Hoda_snf7_2 This invention is applied to antiphage systems. Compared with existing technologies, the main advantages of the antiphage system of this invention are: (1) it consists of only two genes, making system construction simple and quick; (2) it is composed of structural proteins, making it less prone to losing antiphage activity due to gene mutations; (3) it has a broad-spectrum antiphage effect; and (4) it does not affect the normal growth of host bacteria. This system expands the understanding of antiphage systems and provides new ideas and technical means for preventing and controlling phage contamination in industrial microbial production processes.

This invention discloses a visual analysis and prediction method for the ZNF469 gene mutation status in colorectal cancer, belonging to the field of intelligent medical image analysis technology. It involves acquiring whole-slice images of H&E-stained tissue from colorectal cancer patients and corresponding ZNF469 gene mutation status data, constructing an image label pairing dataset; preprocessing the whole-slice images, cutting them into image patches, and using a pre-trained three-class classification model to filter out cancerous region image patches; extracting the macroscopic structural features of each image patch, and simultaneously constructing a nuclear perception map (Transformer) to extract microscopic nuclear morphological features and cell nuclear spatial topological features. This invention achieves rapid prediction of the ZNF469 gene mutation status in colorectal cancer based on pathological images, without relying on gene sequencing technology, reducing detection costs, shortening the diagnostic cycle, and enabling simultaneous mutation status prediction during pathological slide reading, thus improving the efficiency of colorectal cancer diagnosis.

The invention relates to the technical field of biomedicine, in particular to a marker for risk assessment of vitreous retinal lymphoma and application of the marker. The marker comprises mutation sites of vitreoretinal lymphoma related genes, and the vitreoretinal lymphoma related genes comprise BTG1, BTG2, DMD, HLA-A, LRP1B, PTPN11, PTPRD, STAT5A, TGFBR2, VHL, ARID1A, ARID1B, ATM, BCL2, BCL6, BCOR, BRAF, CARD11, CD79A, CD79B, CDKN2A, CDKN2B, EP300, ETV6, EZH2, GNA13, IRF4, JAK1, JAK2, JAK3, KMT2D, MYC, MYD88, NOTCH1, NOTCH2, PIK3CA, PIM1, PRDM1, according to the application, the markers are screened out, a corresponding detection object is designed based on the screened markers, and a vitreous retinal lymphoma risk assessment method with high sensitivity and reliability and a corresponding risk assessment product are constructed. According to the method, an accurate risk judgment result can be obtained based on a comprehensive score of VRL related somatic cell gene mutation in a to-be-detected sample.

The invention relates to the technical field of metabolic engineering bacteria. The invention provides an engineering bacterium for improving the yield of poly-beta-hydroxybutyric acid and a construction method of the engineering bacterium. According to the invention, methylotrophic bacteria MB200 is taken as an original strain, a mispairing repair system MutL gene knock-down strain of CRISPRi is constructed, so that the mispairing repair system MutL gene knock-down strain has a higher gene mutation rate, laboratory directed evolution is carried out by utilizing a screening mode of'rich-deficient carbon sources', chassis cells with stable genomes after directed evolution are obtained, and the engineering strain is named as MB-P1. Compared with the original strain methylotrophic bacteria MB200, the PHB production capacity of the MB-P1 is improved by 72.61%. The method provided by the invention is suitable for optimizing the methylotrophic bacteria strain for producing the PHB, provides a new normal form for realizing efficient accumulation of the PHB, and has wide industrial application potential.

The application discloses an IGFBP-2 derived polypeptide and application thereof in preparation of an antidepressant, and relates to the technical field of biological medicines. The amino acid sequence of the polypeptide is Pro-Lys-Lys-Leu-Arg-Pro, the N terminal of which is acetylated and the C terminal of which is amidated, and the amino acid sequence is shown as SEQ ID NO:1. The polypeptide has a small molecular weight, can easily penetrate the blood-brain barrier, and has good stability after terminal modification. Animal experiments prove that the polypeptide can significantly improve the depressive behavior of Shank3 gene knockout mice, including improving the spatial cognitive ability, enhancing the social interaction and curiosity, and relieving the anxiety behavior. Cell experiments prove that the polypeptide can significantly improve the viability of hippocampal neuron cells from Shank3 gene knockout mice, and up-regulate the expression level of synaptic plasticity related proteins GluA1 and SYN1. The polypeptide can be prepared by a chemical synthesis method, has low cost, and can be used for preparing a medicine for preventing or treating depression (especially depression related to Shank3 gene mutation).

The invention belongs to the technical field of biology, and provides a method for detecting low-frequency gene mutation based on PNA-PCR combined with a Cas13a system and application of the method. According to the method, a target mutation sequence is enriched through PNA-mediated allele specific amplification, a Cas13a / crRNA system is used for carrying out high-specificity recognition and fluorescence signal amplification on an amplification product, and the high-frequency gene mutation is detected through the Cas13a / crRNA system. High-sensitivity detection of low-frequency gene mutation in plasma circulating tumor DNA (ctDNA) is achieved, and the lower detection limit can reach 0.1%-0.01% VAF. The invention solves the problems of insufficient sensitivity, complex operation, high cost or strong equipment dependence and the like in the prior art such as next-generation sequencing, digital PCR and the like during low-frequency mutation detection, and is suitable for noninvasive rapid screening and precise diagnosis and treatment of clinical tumor gene mutation.

The application discloses a method for creating non-transgenic mutant strains of Chinese cabbage. The method for creating non-transgenic mutant strains of Chinese cabbage provided by the application is realized by combining CRISPR / Cas9 technology and Chinese cabbage in situ transformation technology, and specifically comprises the following steps: introducing a CRIPSR / Cas9 gene editing vector carrying an sgRNA coding sequence of a target gene in a Chinese cabbage genome into a receptor Chinese cabbage by a vacuum infiltration in situ transformation method. Two PDS allele knockouts are obtained in 2032 seeds, and the non-transgenic editing mutant strains are obtained by the in situ transformation technology which is independent of tissue culture. The editing efficiency is greatly improved compared with the previously reported in situ transgenic efficiency, and the application provides a good research idea for transgenic safety and marker-free gene editing.

The invention relates to a rice OsACC gene promoter mutant for resisting ACCase inhibitor herbicides and application of the rice OsACC gene promoter mutant. The rice OsACC gene mutant is a deletion mutant or a deletion and combination insertion mutant; the deletion mutation occurs in the promoter of the rice OsACC gene, and the sequence of the nucleic acid before deletion mutation is as shown in SEQ ID No. 1; the length of the sequence of the deleted nucleic acid is 29 bp to 97 bp, A in the initiation codon ATG of the OsACC gene is 0 site, the deleted nucleic acid occurs in the 305-209 sites of the upstream of the initiation codon ATG, and at least the 271-243 sites of the upstream of the initiation codon ATG are deleted; the inserted nucleic acid occurs within sites 271 to 243 upstream of the initiation codon ATG. The mutant can enable rice to obtain resistance to at least one of herbicides such as haloxyfop-R-methyl, fluazifop-p-butyl and clethodim.

The invention relates to the technical field of plant genetic engineering and molecular breeding, in particular to application of CmBt and CmBr genes in regulation and control of bitter taste of muskmelon fruits. Physical interaction exists between muskmelon fruit bitter taste regulation factors CmBt and CmBr proteins, and expression of a bitter taste synthesis key gene CmBi is synergistically activated; the CmbtCmbr double mutants are constructed through a gene editing technology, it is proved that double-gene knockout has a synergistic effect, and the content of cucurbitacine B in all tissue of muskmelon can be more remarkably reduced; field trials show that under induction of forchlorfenuron, bitter taste of fruits of the CmbtCmbr double mutant completely disappears, the effect of the CmbtCmbr double mutant is remarkably superior to that of a single-gene mutant, and quality characters such as fruit weight and sugar degree are not negatively influenced; effective gene resources and germplasm materials are provided for solving the industrial problem that fruits become bitter due to the fact that plant growth regulators are used in muskmelon production.

The present application relates to the field of agricultural technology, in particular to a plant temperature-sensitive male sterility gene mutant tms17 and application thereof.The nucleotide sequence of the plant temperature-sensitive male sterility gene mutant tms17 comprises the nucleotide sequence shown in SEQ ID NO.1 in the sequence listing.The present application screens a new temperature-sensitive male sterile line tms17 by chemical mutagen ethyl methyl sulfone (EMS) mutagenesis of japonica rice variety ZH11, which is completely sterile at high temperature and fertility is restored at low temperature, and the mechanism of temperature-sensitive fertility restoration is disclosed, which provides a new germplasm resource with application potential for rice two-line hybrid breeding.

The present application provides a medicine for treating ocular surface and corneal epithelial diseases, which has fibroblast growth factor 5 as an effective component. The medicine has the effects of promoting corneal epithelial repair and treating ocular surface diseases caused by fibroblast growth factor 5 (FGF5) gene mutation, and has no toxic side effects.

A method and system enabling a determination of the risk of developing breast cancer of a subject, comprises using a magnetic resonance spectroscopy device to obtain the level of the spectral signal at 3.15 and 3.19 ppm, within the breast tissue of the subject, and comparing the level of the spectral signal obtained in the first step with a reference level of a spectral signal at 3.15 and 3.19 ppm of the breast of a healthy subject, to determine whether the level of the signal obtained in the first step exceeds the reference level of a healthy subject is comparable to that of a subject known to be at elevated risk; or is elevated to the level of persons known to be carrying a gene mutation.

This invention relates to the fields of microbial genetic engineering and brewing technology, and provides a PDC1 gene mutant strain resistant to 2-phenylethanol and its application in the brewing of wheat-aroma baijiu. The mutant strain is *Saccharomyces cerevisiae* PDC1_473 (HM 03), with the preservation number CCTCC M20252996. The PDC1 gene of this strain has a base mutation from T to C at position 473. When this mutant strain is applied to the solid-state fermentation of wheat-aroma baijiu, it becomes the absolutely dominant fungal community, significantly altering the microbial community structure of the fermentation system, inhibiting the growth of various conditionally pathogenic and spoilage bacteria, strengthening the fermentation environment centered on *Lactobacillus*, and significantly enhancing the rose, citrus, grassy, ​​fatty, and caramel aromas of the baijiu. It imparts a pleasant, rich ester aroma and complex aroma to the baijiu, increasing its fullness, and has broad application potential in the brewing of wheat-aroma baijiu.

The invention relates to the technical field of breast cancer analysis and prediction, in particular to a breast cancer gene drug screening method and system based on deep learning. According to the screening method, breast cancer gene mutation information is obtained, matching retrieval is conducted in a MySQL database, and whether the breast cancer gene mutation information is existing information or not is judged; if not, sequence retrieval and consistency verification are carried out, and mutant sequence information is obtained; performing protein structure prediction on the mutant sequence information based on a deep learning model to obtain three-dimensional space conformation data of mutant amino acids, and performing multi-dimensional function quantitative evaluation on the three-dimensional space conformation data based on drug small molecules to obtain function influence coefficient analysis data; and grading the drug small molecules, and carrying out matching degree calculation on the graded drug and the breast cancer gene mutation according to the function influence coefficient analysis data to obtain a drug recommendation index. The screening method can improve the accuracy of breast cancer gene mutation drug screening.

Provided is a method for production by direct transdifferentiation of somatic cells into another somatic cells which is convenient, has good reproducibility, is excellent in production efficiency, and is performed in a short period of time. The method for production by direct transdifferentiation of somatic cells into another somatic cells comprises: (a) a step of introducing a GLIS family gene, a mutated GLIS family gene or a gene product thereof into somatic cells; and (b) a step of 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 another somatic cells.

The invention relates to an application of a tobacco Ntfb1 gene in tobacco leaf quality improvement, and belongs to the technical field of plant genetic engineering, the nucleotide sequence of the Ntfb1 gene is shown as SEQ ID NO.1, the CDS sequence is shown as SEQ ID NO.2, and the amino acid sequence of a protein encoded by the gene is shown as SEQ ID NO.3. The application is that the tobacco Ntfb1 gene is mutated to improve the tobacco leaf quality, and the tobacco Ntfb1 gene has a nucleotide sequence shown as SEQ ID NO.1. The tobacco leaf quality improvement comprises reduction of nicotine content in tobacco leaves, increase of total sugar content and reducing sugar content in the tobacco leaves, increase of tobacco leaf thickness, looseness and oil content in the tobacco leaves, and increase of aroma quality, aroma quantity, aftertaste and sweetness of smoke. According to the invention, the blank of application research of the Ntfb1 gene in flue-cured tobacco quality regulation and control is filled, and a new empirical basis and a feasible path are provided for development and utilization of tobacco functional genes.