256 results about "Genes mutation" patented technology

The invention relates to a haploid induction method based on a brassica napus phospholipase gene BnaPLA2-a and application of the haploid induction method, the BnaPLA2-a gene in brassica napus is knocked out through a gene editing technology, a mutant material capable of inducing haploid generation is obtained, and the application blank of a phospholipase pathway in dicotyledon haploid induction is filled. Compared with a traditional microspore culture technology, the invention provides a brand-new haploid induction path which is derived from the rape and is used for the rape. The invention provides a brand new technical tool and germplasm resources for genetic breeding of brassica napus. Meanwhile, the invention discloses a gene, a mutant, a creation method and application in breeding.

The invention discloses a method and a system for assisting in inputting clinical information of rare diseases and analyzing gene mutation based on phenotypes. The method comprises the following steps: firstly, acquiring clinical information in voice, text and image forms of a patient through a multi-source data acquisition module, converting the clinical information into characters, and performing entity recognition and standardization processing to generate structured medical record data; secondly, extracting clinical phenotypes from the structured data; furthermore, a candidate gene list is obtained according to the gene-disease relationship, comprehensive scoring and sorting are carried out, and a concerned gene list is output. According to the method, efficient structured input and standardization of clinical information are realized, the accuracy and automation level of phenotype-gene matching are remarkably improved, the gene variation interpretation period is effectively shortened, and intelligent support is provided for precise diagnosis of genetic diseases.

The invention provides a pharmaceutical composition. The pharmaceutical composition is prepared from an angiotensin II receptor blocker, folic acid, 5-methyltetrahydrofolic acid and acceptable auxiliary materials. The composition has the advantages that the composition has the functions of reducing blood pressure and preventing and treating osteoporosis, and is particularly suitable for hypertension and osteoporosis susceptible people with MTHFR C677T gene mutation. Through the implementation of the invention, the pharmaceutical composition is provided for people with a specific genetic background, so that precise medical treatment is realized, the curative effect is improved, the side effect is reduced, and the medication compliance is improved.

The invention discloses an organ-like drug resistance prediction method and device and a storage medium, and relates to the technical field of bioinformatics, and the method comprises the steps: S1, constructing an initial prediction model; s2, acquiring a training data set; s3, training an optimization prediction model; s4, acquiring related data of a to-be-predicted drug; s5, obtaining a prediction result of the drug resistance of the to-be-predicted drug; according to the method, the drug resistance of the organoid to the drug can be predicted more accurately. By fusing multi-dimensional features of gene mutation, target mutation and drug functional groups, the understanding and learning ability of the model to the drug resistance mechanism is enhanced, and the reliability of drug resistance prediction is improved. The method not only can accurately capture key information of influence of gene and target mutation on drug resistance, but also can highlight unique mutant genes of the organoid on drug resistance by comparing feature differences of the organoid and a common cell line, so that an efficient and accurate calculation framework is provided for drug resistance detection.

The invention relates to the technical field of molecular detection, in particular to a method, a system, a kit and a probe for detecting BRCA2 gene mutation. The detection method comprises the following steps: carrying out pretreatment and PCR amplification on a blood sample, carrying out a hybridization reaction with a probe to obtain a sample, detecting the sample based on an SERS technology, and collecting an SERS spectrum. Whether BRCA2 gene mutation exists or not is judged by identifying characteristic double peaks of a cy3 fluorophore at 1188 cm <-1 > and 1393 cm <-1 >, and the whole detection process can be completed within 2 hours. According to the scheme, the region, carrying the BRCA2 gene, on the DNA can be amplified through the specific primer pair, then the DNA is specifically combined through the improved oligonucleotide probe, and detection is achieved through the reporter molecule on the oligonucleotide probe; therefore, the detection method provided by the scheme has the advantages of high detection speed, high sensitivity and high detection result accuracy, and the problems of long time consumption and high cost of the traditional PCR or NGS technology are effectively solved.

This invention discloses a method for inhibiting Tamdy virus infection and the use of TCP1 inhibitors. Specifically, this invention discloses a method for inhibiting Tamdy virus (TAMV) infection of host cells, the method comprising the step of reducing or inhibiting the expression level and / or activity of the TCP1 gene or its encoded protein in host cells, wherein the reduction or inhibition of the expression level and / or activity of the TCP1 gene or its encoded protein is achieved by methods selected from the group consisting of: gene mutation, gene knockout, gene interruption, RNA interference technology, gene editing technology, introduction of inhibitors of genes or proteins, or combinations thereof.

The present application belongs to the field of plant genetic engineering and biotechnology, and particularly relates to a method for creating a dwarf material of Brassica napus by using CRISPR / Cas9 gene editing technology and application. The method edits the Brassica napus BnaA06G0083400WE gene by using CRISPR / Cas9 gene editing technology to obtain a dwarf material of Brassica napus; the nucleotide sequence of the coding gene mutant of the Brassica napus dwarf material is SEQ ID NO. 1. The present application edits the Brassica napus BnaA06G0083400WE gene by using CRISPR / Cas9 gene editing technology to obtain a dwarf Brassica napus, which provides valuable genetic resources and germplasm resources for Brassica napus breeding; the method has strong characteristics and is easy to obtain, is an effective way to realize the improvement of target traits and cultivate new materials, and can be applied to Camellia sinensis breeding.

The invention provides application of an OsATG5 gene in improvement of drought resistance of rice, and belongs to the technical field of gene engineering and rice drought resistance. The nucleotide sequence of the OsATG5 gene is as shown in SEQ ID NO: 1, and the amino acid sequence of the encoding protein of the OsATG5 gene is as shown in SEQ ID NO: 2. Compared with a wild type (WT), the survival rate of the OsATG5 gene mutant plant osatg5 under PEG-induced drought stress is obviously lower than that of the WT; the survival rate of the plant OsATG5-OE overexpressed by the OsATG5 gene under drought stress is obviously higher than that of WT. Compared with WT, the content of proline and soluble sugar in the plant OsATG5-OE overexpressed by the gene OsATG5 after drought stress induced by PEG is increased, and the accumulation amount of hydrogen peroxide and malondialdehyde is reduced; after PEG induces drought stress, the proline content and the soluble sugar content of osatg5 mutant leaves are reduced, and the hydrogen peroxide content and the malondialdehyde content are increased. In conclusion, the OsATG5 gene is a potential candidate new target for regulating and controlling the drought resistance mechanism of the rice.

The invention provides a method for merging expression values based on an MTX family and a kit for predicting prognosis of thyroid cancer, the kit detects the transcriptional level expression quantity of the MTX gene family by combining an RT-qPCR technology with a specific primer, and the expression quantity data is substituted into a prognosis prediction model, so that the prognosis of a thyroid cancer patient is realized. Particularly, the prognosis evaluation of BRAF V600E mutant thyroid cancer patients is realized. Experiments prove that the expression level of the MTX gene family is related to thyroid cancer driving gene BRAF V600E mutation, and the prognosis of a patient is influenced by influencing the electron transfer function of the BRAF V600E mutation thyroid cancer patient, so that the MTX gene expression level detection can be used as a prognosis prediction index of the BRAF V600E mutation thyroid cancer patient, and the prognosis of the BRAF V600E mutation thyroid cancer patient is influenced. And a basis is provided for selection of operation modes of thyroid cancer patients.

The present application relates to the field of gene mutation detection, in particular to a gene detection reagent, kit, detection method and application for predicting susceptibility to myopia, comprising specific detection primers and / or fluorescent probes for detecting rs524952, rs148443109, rs75714645, rs7290586, rs188276693 and rs1420853 gene polymorphism detection sites. The present application also discloses a kit comprising the aforementioned reagent and a detection method. The reagent, kit and detection method of the present application can detect the aforementioned six gene sites respectively, and by determining the genotyping of the six gene sites of the patient, the risk population of myopia can be identified through analysis, and the prevention and control of myopia can be guided.

The invention discloses application of an SNP (Single Nucleotide Polymorphism) marker influencing the lambing number of goats. The marker is located on a PIEZO1 gene on a capa circus 18 # chromosome, the specific SNP marker site is A / C base mutation at the 236bp position of SEQ ID NO: 1 in a sequence table, and the lambing number of CC genotype and AC genotype goat individuals at the site is remarkably higher than that of AA genotype individuals. According to the present invention, the Musheng black goats are adopted as the research object, the DNA sequence of the 33rd exon of the PIEZO1 gene is subjected to PCR amplification, the sequence has an SNP variation site, the influence of the site polymorphism on the goat lambing number is analyzed, the individual Musheng black goat breeding is performed according to the influence, and the method can be used for improving the Musheng black goat lambing number so as to provide the basis for the breeding of the Musheng black goats. The breeding of a new variety (strain) taking the Muscheng black goat as a breeding material is accelerated, and a marker resource is provided for marker-assisted selective breeding of goat lambing number traits.

Methods for targeting a tumor antigen for immunotherapy based on HLA allele type and the mutations present in the tumor antigen are presented. A patient's HLA allele type and a tumor antigen derived from a mutation in cancer driver gene can be matched with a majority allele type having a minimum affinity to the same tumor antigen or with those of a plurality of patients with a history of cancer treatment. Upon matching, a cancer treatment against the tumor antigen can be selected and administered to the patient to achieve a desired effect.

The application relates to the technical field of gene sequencing data processing and bioinformation analysis, in particular to a Web-based whole-exome sequencing tumor gene mutation detection visual analysis method and system. The system collects user sequencing data and a reference genome version through a Web interactive interface; a program is called to perform quality control cleaning and evaluation on the data, and a visual report is generated; sequence alignment is completed based on the reference genome, and a variation site is identified through algorithm iteration; biological annotation of the variation is combined with a database, a candidate pathogenic mutation set is screened out in multiple levels according to a strategy, the candidate set is projected to a visual interface, a site state is confirmed or removed in response to a manual checking instruction, and a final gene mutation detection report is generated. The application greatly simplifies the whole-exome sequencing data processing procedure, makes it easy for clinical doctors or researchers without bioinformation background to start, and improves the popularization rate and work efficiency of tumor gene detection work.

The invention discloses a rice disease resistance defense regulation gene SRWD2 as well as an encoding protein and application thereof. According to the invention, a rice disease spot-like mutant tb18 is taken as an experimental material, a rice disease resistance defense regulation gene SRWD2 is separated through strategies such as MutMap positioning and transgene complementation, the nucleotide sequence of the gene is shown as SEQ ID NO.1, and the sequence of a protein coded by the gene is shown as SEQ ID NO.2. The biological function of the SRWD2 gene is analyzed, a theoretical basis is provided for clarification of a molecular mechanism of programmed cell death and defense reaction of plants, the gene mutation site is introduced into the plants through gene engineering or conventional means, the disease resistance can be remarkably enhanced, and the gene has important application value in the aspect of disease-resistant variety cultivation of the plants.

Compositions and methods relating to a pharmacological therapy for a human genetic disease, specifically mitochondrial DNA depletion-deletions syndromes, and more specifically, those related to mutations in the GUK1 gene. The pharmacological therapy involves the administration of deoxyguanosine (dG), a purine nucleoside phosphorylase (PNP) inhibitor, including but not limited to forodesine, or both.

The invention belongs to the technical field of genetic engineering and functional enzyme preparations, particularly relates to sucrose synthase and a coding gene and a mutant thereof, and further discloses application of the sucrose synthase. According to the invention, sucrose synthase is obtained from candidate methylobacterium and is further mutated, so that a sucrose synthase mutant of which the enzyme activity, the conversion rate and the stability are remarkably improved is obtained, and the activity and the efficiency of a stevioside synthesis process are effectively improved.

This invention belongs to the field of tumor immunotherapy and provides the application of Hdac3 gene knockout formulations or Ikkα gene knockout formulations in the preparation of drugs that inhibit tumor metastasis. The research results of this invention show that Hdac3 and Ikkα gene mutations significantly inhibit lung tumor metastasis and prolong the survival of mice, and this metastasis inhibition is independent of T, B, and NK cells. Simultaneously, this invention also discovers that Hdac3 and Ikkα mutations inhibit lung tumor metastasis by affecting the sensitivity of tumor cells to tumor necrosis factor, making tumor cells more susceptible to apoptosis, thereby providing a method for sustained in vivo killing of tumor cells. This invention also provides a mutant vector, which exhibits good anti-tumor metastasis effects.

The invention belongs to the technical field of biological medicine and molecular biology, and provides a hypertrophic cardiomyopathy virulence gene MYH7c.794Cgt; the invention relates to T (p.Thr265Ile) and an application thereof. The MYH7 gene mutation is located on the ninth exon, the 794th base is mutated from C to T, namely ACC is mutated to ATC, and the 265th amino acid in the coded amino acid sequence is mutated from threonine to isoleucine. The mutation induces cardiac hypertrophy by disrupting energy metabolism-this defect occurs prior to the occurrence of systolic dysfunction. Along with increasingly prominent status of precision medicine in cardiovascular treatment, a treatment strategy aiming at an upstream pathological process (such as energy homeostasis and mitochondrial dysfunction) provides a way with a wide prospect for preventing and treating MYH7-related hypertrophic cardiomyopathy. MYH7 gene screening has important values in the aspects of promoting early diagnosis, guiding timely treatment intervention and realizing risk-based prevention and management.

Provided is a method for diagnosing the prognosis and therapeutic effect for chemotherapy in patients with rheumatoid arthritis-associated lymphoproliferative disorder (RA-LPD), who have developed a lymphoproliferative disorder (LPD) during the treatment of rheumatoid arthritis (RA). This is a kit for diagnosing the prognosis and therapeutic effect for chemotherapy in rheumatic arthritis-associated lymphoproliferative disorder (RA-LPD) patients, who have developed LPD during RA treatment. The kit comprises: means for detecting an inositol 1,4,5-triphosphate receptor (ITPR) type 2 (ITPR2) gene mutation in a biological sample from a patient; and instructions for determining that the prognosis and therapeutic effect for chemotherapy are poor when an ITPR2 gene mutation is present in the biological sample from the patient. The LPD is diffuse large B-cell lymphoma (DLBCL). For the ITPR2 gene mutation, Chr12:rs26744460 is GT or GG. Use for the diagnosis of non-RA lymphoma patients is also possible.

The application belongs to the technical field of gene diagnosis, and specifically discloses a PHEX gene mutant and application thereof. The application mainly relates to the PHEX gene mutant and application thereof, and specifically relates to application of a PHEX c.112_113insA mutation in screening of a product of X-linked hypophosphatemic rickets resistant to vitamin D. The disclosure widens the pathogenic gene spectrum of X-linked hypophosphatemic rickets resistant to vitamin D, strengthens the understanding of the disease by clinical doctors, provides experience for screening and diagnosis of the disease in the clinic, and also provides a basis for prenatal diagnosis.

The present disclosure provides methods of treating, preventing, or delaying the onset of a late-onset neurodegenerative disease, e.g., Niemann-Pick type C, or a symptom thereof in a subject in need thereof, comprising administering a therapeutically effective amount of acetyl-leucine to the subject, wherein the subject is heterozygous NPC1 gene mutation carrier.

The invention discloses application of a transcription extension complex subunit ZmELP2 in regulation and control of corn grain development and plant height, and belongs to the technical field of plant genetic engineering and corn molecular breeding. The corn mutant smk251 with stable inheritance is obtained through EMS mutagenesis treatment, and compared with a wild type, the corn mutant smk251 has the advantages that the grain size is obviously reduced, and the plant height is reduced. The mutant provides a source for digging genes for regulating and controlling corn kernel and plant height. Based on a corn mutant smk251, a mutant gene ZmELP2 gene is further obtained through map-based cloning technology positioning, the function of the ZmELP2 gene is verified through overexpression and refilling tests, and it is determined that the mutant smk251 is really caused by ZmELP2 gene mutation. The ZmELP2 gene provided by the invention can be used for providing a new gene resource for cultivating high-yield corn varieties and lodging-resistant corn varieties, and has important production and application values.

The invention relates to the technical field of gene engineering, in particular to a soybean GmST3d gene mutant and application of the soybean GmST3d gene mutant to regulation and control of resistance of soybeans to sclerotinia sclerotiorum. The invention provides the soybean GmST3d gene mutant, and reveals that the soybean GmST3d protein and the coding gene thereof have the function of regulating and controlling the resistance of the soybean to sclerotinia sclerotiorum for the first time, and the resistance of the soybean to the sclerotinia sclerotiorum can be effectively improved by introducing the soybean GmST3d gene mutant into a plant. The GmST3d protein and the coding gene thereof provided by the invention can be used for breeding soybean resistant varieties, and have a wide application prospect.

A system and method for the detection of saliva biomarkers in bodily fluids is described. In particular, the system is suitable for detecting biomarkers of lung cancer in a subject. The system includes an electrochemical sensor chip having at least one well, wherein the at least one well contains a working electrode coated with a conducting polymer functionalized with at least one capture probe, and at least one labeled detector probe. When the at least one labeled detector probe is mixed with a sample of the subject containing a biomarker of lung cancer and added to the at least one well, an electric current is applied to the sample, such that when at least some of the biomarker binds to the capture probe, a measurable change in electric current in the sample is created that is indicative of lung cancer.

The present invention relates to a base correction system that corrects mitochondrial DNA mutations G3460A, G11778A, or T14484C, which are present in patients with Leber's hereditary optic neuropathy (LHON), to a normal genotype. Specifically, the present invention provides a base editor capable of correcting a mutation site in a mitochondrial gene of an LHON patient to a normal genotype. The present invention also provides a method for correcting a mitochondrial gene mutation using a fusion protein or a polynucleotide encoding such a fusion protein that recognizes a specific site in the mitochondrial gene of an LHON patient and specifically corrects the adenine base at position 3460, the adenine base at position 11778, or the cytosine base at position 14484. The base editor or polynucleotide according to the present invention can be used in cells or in an extracellular test tube environment to correct DNA mutations specifically expressed in LHON, and more preferably, can be used as a gene therapy agent to prevent or treat the disease. Thus, the present invention also provides a use of the substance for preventing or treating Leber's hereditary optic neuropathy.

The present disclosure relates to a dwarfism animal model carrying an IGF-1 gene mutation and a method for generating the same. According to the present disclosure, the problem that an animal dies immediately after birth is overcome, the majority of phenotypes seen in Laron syndrome patients may be observed in the dwarfism animal model, and the dwarfism animal model has decreased expression of personality genes. Thus, the dwarfism animal model may be effectively used as a dwarfism-related disease model.

The present invention relates to a gene variant of the transcriptional regulator LysG and a method for producing L-citrulline or L-arginine using same. The gene variant of the transcriptional regulator LysG according to the present invention has protein activity that is altered due to the mutation of one or more bases in the base sequence of a gene encoding the transcriptional regulator LysG, and thus, it is possible to effectively produce L-citrulline or L-arginine from a recombinant microorganism comprising the variant.

The disclosure relates to targeted Chromatin Accessibility and Mutation Sequencing (tCAM-seq) for parallel analysis of genetic and epigenetic analysis of patients with pancreatic adenocarcinoma (PDAC) to 1) determine responsiveness to standard of care chemotherapy, and 2) identify actionable allelic variant mutations that can be used to guide treatment decisions. Prognostic methods and treatment strategies are also provided.

The present disclosure relates to a mutant sequence of rice OsABCD1 gene and a method and application thereof in regulating cadmium accumulation in rice. Specifically, it relates to a mutant sequence of rice OsABCD1 gene, a protein encoded by the mutant sequence, a vector, a transformant, a method for reducing cadmium accumulation in rice plants and the application thereof. The present disclosure makes the function of the gene lost by gene mutation at the target site I of rice OsABCD1 gene, thereby reducing the accumulation of cadmium in rice; provides gene resources and technical support for breeding rice varieties with reduced cadmium absorption content, effectively improves the problem of excessive cadmium content in rice, and has important agricultural application value.

The invention discloses a 2-amino-4-anilino pyrimidine compound as well as a preparation method and application of the 2-amino-4-anilino pyrimidine compound. The compound has a strong inhibition effect on EGFR (epidermal growth factor receptor) gene mutation targets and c-MET and has a strong inhibition effect on osimertinib drug-resistant cells; and the compound can inhibit proliferation of various tumor cells, and provides excellent application prospects for treatment of EGFR gene mutation and MET amplified malignant tumors.