154 results about "Pathogenic genes" patented technology

The invention relates to the technical field of biology, in particular to a verticillium dahliae virulence gene, a verticillium dahliae virulence protein and application. The invention discloses a verticillium dahliae virulence gene VdPHO23like. The verticillium dahliae virulence gene VdPHO23like comprises a polynucleotide sequence for coding an amino acid sequence of SEQ ID NO: 3. According to the invention, expression of the gene is inhibited in a targeted manner through an RNA interference mediated gene silencing technology so as to weaken virulence of pathogenic bacteria, and an efficient, specific and environment-friendly comprehensive prevention and control strategy is provided for verticillium wilt of crops such as cotton.

The invention provides a topology and biological feature fusion-based virulence gene prediction method, which comprises the following steps of: obtaining a to-be-detected gene; inputting the to-be-detected gene into a trained DAVGAE model, and predicting the correlation degree of the to-be-detected gene and the disease to obtain a disease gene correlation prediction conclusion; wherein the DAVGAE model comprises a data enhancement module, an encoder and an inner product decoder. The problems of data sparsity and heterogeneous data integration in gene-disease association prediction can be effectively solved at least through a DAVGAE model formed by a data enhancement module, an encoder and an inner product decoder.

The invention relates to the field of microbial genetic transformation, and discloses a preparation method of Ilyonectria fungus protoplast and a construction method of a genetic transformation system.The preparation method comprises the following steps that S11, Ilyonectria fungus hyphae are prepared, Ilyonectria fungi are cultured on a PDA solid culture medium for 14 d, then the Ilyonectria fungi are inoculated to a CMC liquid culture medium to be subjected to shake-flask culture for 4 d and filtered, filtrate is centrifuged for 10 min at the speed of 10000 rpm, and spores are collected; diluting the concentration of spores to 107 pieces / mL, inoculating the spores into a YEPD liquid culture medium, carrying out shake-flask culture for 2 days, and filtering and collecting hyphae; and S12, preparing the Ilyonectria fungus protoplast, namely adding the hypha prepared in the step S11 into the enzymatic hydrolysate, performing enzymolysis in a shaker at the temperature of 30 DEG C at the rotating speed of 150-200rpm for 3-5 hours, filtering, centrifuging filtrate at the temperature of 4 DEG C, discarding supernate, adding 0.7 M NaCl for centrifuging, and discarding the supernate, thereby obtaining the Ilyonectria fungus protoplast. The genetic transformation constructed by the invention can be used for exploring the specific action and mechanism of a specific pathogenic gene in the pathogenic process of Ilyonectria fungi through gene knockout or overexpression experiments.

The invention relates to the technical field of bioinformatics, in particular to a biological information analysis system based on a large model technology, which comprises a data analysis calibration module, a problem disassembly module, an analysis task arrangement module, a result mapping module and a feedback iteration module. According to the method, genome comparison and clinical phenotype timestamps are dynamically calibrated, time sequence dislocation deviation is eliminated, base complementary pairing is combined with protein network anomaly screening, low-abundance collaborative variation capture is enhanced, genotype-phenotype discrete distribution quantifies and unifies multi-modal data benchmark, and the problem of multi-source heterogeneous standardization deficiency is solved; the method comprises the following steps: classifying and integrating pathogenic gene semantic weights by structural variation, balancing a statistical threshold and a biological function, dynamically optimizing an analysis sequence, synchronously covering a key mutation region, improving function annotation of a non-coding region, integrating gene expression clustering and protein network topology in a three-dimensional distribution manner, breaking through two-dimensional space limitation, performing closed-loop feedback to correct a threshold iteration elimination rule, and finally obtaining a high-quality gene expression cluster. And the genetic heterogeneity false positive rate is reduced.

The invention provides a vaccine target screening system based on calculation model simulation. The vaccine target screening system comprises a multi-source heterogeneous database, wherein the multi-source heterogeneous database integrates and standardizes pathogenic genes, protein structures, literatures and experimental data; the feature calculation module calls a calculation biological model to carry out structural analysis, immunogenicity simulation and stability prediction; the intelligent screening and sorting module applies a multi-objective optimization algorithm to perform parallel evaluation and outputs optimal target spots; a structure iteration optimizer automatically iteratively corrects the optimized target spots to generate a high-potential variant library; and the process suitability simulation module couples the variants with the preparation formula and the process parameters to simulate production storage behaviors and feeds back an optimization target. According to the invention, efficient screening and optimization of vaccine targets can be realized, the accuracy and efficiency of target screening are improved, the research and development cost is reduced, and the research and development process of vaccines is accelerated.

The invention discloses a verticillium dahliae virulence gene, a verticillium dahliae virulence protein and application. The invention relates to the technical field of biology, and provides a method for preventing and treating cotton verticillium wilt based on RNAi (RNA interference) as well as related components and application thereof. Specifically, the invention discloses application of the verticillium wilt prevention and treatment by a method for inhibiting or silencing the expression of verticillium dahliae pathogenic gene VdHDAC (coding protein of the verticillium dahliae pathogenic gene VdHDAC is shown as SEQ ID NO: 3), the core of the verticillium wihliae pathogenic gene VdHDAC is to provide dsRNA molecules capable of targeting the gene, and the positive-sense strand of the dsRNA molecules is preferably selected from SEQ ID NO: 5, SEQ ID NO: 8, SEQ ID NO: 9 or SEQ ID NO: 11. Based on the molecule, the invention further provides a recombinant vector containing the coding sequence, a recombinant microorganism, a transgenic disease-resistant plant and an RNAi pesticide preparation. The scheme can be realized through host-induced gene silencing, microorganism-mediated gene silencing or preparation treatment and the like, the virulence of pathogenic bacteria can be effectively reduced, and a new technical approach is provided for green prevention and control of verticillium wilt.

The invention relates to a pathogenic gene identification method and system based on multi-agent debate and a medium. The method comprises the following steps: acquiring gene detection data and clinical phenotype data; the data agent processes the acquired data, and calls a gene variation pathogenicity analysis operator and a molecular genetic large model to obtain first pathogenic gene information; the knowledge agent calls a molecular genetic large model to obtain second pathogenic gene information based on the first pathogenic gene information; the knowledge and data agents sequentially speak and debate pathogenicity of candidate pathogenic genes in the first or second pathogenic gene information on the basis of sorting results in the pathogenic gene information output by the knowledge and data agents; after each round of debate is finished, the debate agent judges whether the sorting results of the data and the knowledge agent on the candidate pathogenic genes are consistent or not, if the sorting results are consistent or the number of debate rounds reaches a threshold value, debate is finished, the debate agent conducts reasoning and outputs a result, and if not, the next round of debate is started. Compared with the prior art, the method has the advantages of no dependence on large-scale training data, high interpretability and the like.

The present invention discloses the application of TMPRSS9 gene in the diagnosis and treatment of venous thromboembolism, and belongs to the field of medical diagnosis and treatment technology. The present invention verifies the association between missense mutations of TMPRSS9 gene and thrombophilia in human population, in vivo and in vitro, and draws the following conclusions: nonsense mutations and missense mutations at the sites of c.334C>T, c.692C>T, c.917G>A, and c.1709C>T of TMPRSS9 gene are representative in the effect of TMPRSS9 gene mutation on the occurrence of venous thrombosis. The discovery of the above-mentioned pathogenic gene mutations can prevent and treat thrombophilia at an early stage, which is of great significance for the diagnosis, treatment and management of thrombophilia. At the same time, the inclusion of the new TMPRSS9 gene enriches the genetic variation spectrum of venous thromboembolic diseases, which is of guiding significance for the screening of diseases.

This invention discloses a pathogenic gene of barley stripe bacterium. Pg00232 Its application. Barley stripe disease is a fungal disease caused by *Barley Stripe Pathogen*, which seriously affects barley yield and quality. Traditional control methods have limited effectiveness and pose environmental risks; breeding disease-resistant varieties is the best strategy. This invention provides pathogenicity information for *Barley Stripe Pathogen*. Pg00232 Genes, and obtained through RNA interference technology Pg00232 The mutant strain further confirmed that Pg00232 The influence of genes on the growth, development, and pathogenicity of barley stripe causal agent. This discovery provides technical support for subsequent large-scale screening of pathogenic mutants of barley stripe causal agent, promotes the isolation, identification, and pathogenic mechanism research of pathogenic genes, and contributes to the breeding and selection of disease-resistant varieties.

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The invention provides a nanoparticle penetrating cornea as well as a preparation method and application thereof. The nanoparticle comprises a cationic liposome G2-C14, an inner core formed by aliphatic polyester and an amphiphilic polymer, and a shell modified by polysaccharide, the hydrophobic drug and the siRNA are loaded in the inner core. According to the nano-particles provided by the invention, through polysaccharide surface modification, ocular surface adhesion and trans-epithelium transport capability are enhanced, multi-barrier penetration of the eye is realized, the nano-particles are effectively delivered to a focus area of posterior segment of the eye, the delivered siRNA targets to silence the expression of age-related macular degeneration pathogenic genes, and the hydrophobic drug removes active oxygen and inhibits release of inflammatory factors, so that the anti-aging effect of the nano-particles is improved. The focus thickness is synergistically reduced.

The present invention provides a mutant gene, detection and application that causes 3-methylglutaconic aciduria type VII. The mutant gene that causes 3-methylglutaconic aciduria type VII includes a compound heterozygous mutation at the CLPB:NM_030813.6:exon8:c.1016T>G:p.L339R site and the exon1:c.130delG:p.E44Sfs*5 site. The mutant gene can effectively distinguish patients with 3-methylglutaconic aciduria type VII from the normal population. Therefore, the pathogenic gene mutation of the present invention can be used as a biomarker for diagnosing 3-methylglutaconic aciduria type VII. The present invention can be used for screening or diagnosing the genetic diagnosis of 3-methylglutaconic aciduria type VII by detecting whether the subject carries the above-mentioned mutation. The detection kit provided by the present invention can be used to quickly and effectively predict or diagnose 3-methylglutaconic aciduria type VII.

The present invention belongs to the field of data mining technology and relates to a method for discovering the influence of key elements based on native-derivative topic transfer learning, including obtaining information including native topics and derived topics and related user information from an API interface provided by a social platform; constructing the early propagation network topology and propagation timing of derived topics, including using a joint distribution adaptive method to perform cross-domain feature adaptation on the content space of native topics and derived topics, and considering the sparsity of early data of derived topics, using an adversarial transfer learning method to compensate for the network structure; constructing a message-path-user ternary association graph of derived topics and performing cyclic iterative scoring to rank the influence of key elements of derived topics; the present invention can timely and accurately mine key elements in the early stage of the outbreak of derived topics, and the present invention can also be widely used in the precise placement of product advertisements, the discovery of important pathogenic genes, the prediction of popular research results, and the prevention of computer virus propagation.

The invention relates to a gene diagnosis technology, in particular to a kit for detecting phenylketonuria pathogenic genes and application of the kit, the kit comprises a reagent for detecting PAH pathogenic mutants, and the PAH pathogenic mutants are characterized in that in a coding region of a nucleotide sequence shown as the accession number NM000277.3, the 721st basic group is mutated into C from T, and the 741st basic group is mutated into G from T; the reagent is a primer. According to the invention, a new mutation site of the phenylketonuria virulence gene is found, and the research of the phenylketonuria virulence gene is enriched; the kit provided by the invention contains a reagent for detecting the new mutation site, is found for the first time in the prior art, is simple in structure, can more conveniently and quickly detect the pathogenic gene of phenylketonuria, and increases a new clinical detection product.

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 barley stripe disease (Barley stripe disease) is an important disease in the worldwide range, which is caused by pyrenopora graminea, and the disease is one of the diseases which are commonly generated in barley producing areas in China and are seriously harmful to the barley producing areas. At present, breeding and utilization of disease-resistant varieties are the most economical, effective and safe means for controlling the disease. The invention provides screening and identification of the virulence gene Pg00778 of the barley stripe pathogen, a Pg00778 mutant strain is obtained through RNA interference and overexpression methods, and the influence of the Pg00778 gene on the growth, development and pathogenicity of the barley stripe pathogen is further proved. Technical support is provided for subsequent large-scale screening of barley streak pathogen pathogenesis related mutant strains, and separation, identification and pathogenesis research of barley streak pathogen pathogenesis related genes are promoted.

The invention discloses preparation and application of a double-component dsRNA (double-stranded ribonucleic acid) medicament for enhancing resistance mutation risk capability of RNA (ribonucleic acid) pesticide to botrytis cinerea, and a key pathogenic gene of botrytis cinerea is any one or two of a botrytis cinerea global regulatory factor Vel1 gene or a galacturonic acid reductase Gar2 gene. The dsRNA is any one or two of dsRNAs targeting a Vel1 gene or a Gar2 gene, and efficient prevention and control of gray mold are achieved through key pathogenic links such as spore germination inhibition, hypha colonization and infection structure formation. In addition, the effectiveness of the RNA pesticide aiming at botrytis cinerea after single target gene mutation is evaluated through cooperative use of the combination of the double-component RNA, the ds-Gar2 and the ds-Vel1, the good effect of the double-target synergistic effect in the aspect of reducing the off-target risk is proved, and the practice and popularization of a green prevention and control technology in prevention and control of gray mold are promoted.

The present invention provides a primer combination, a kit, a detection system, a detection method and an application for detecting pathogenic gene mutations of familial Alzheimer's disease and APOE genotypes by means of constant temperature multiplex rapid detection. The method of the present invention uses the amplification refractory mutation system technology combined with the nicking endonuclease nucleic acid detection reaction isothermal amplification system to perform multiplex amplification on 14 sites including 12 hot spot mutations and 2 risk sites of the Alzheimer's disease pathogenic gene, and at the same time combines capillary electrophoresis for product analysis to perform genotyping detection.

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.

The invention discloses a method for determining a chromosome copy number and a specific gene carrying chain by using an embryo culture solution. The method can be used for simultaneously detecting embryo chromosome abnormality and a specific gene carrying state. The method comprises the following steps: firstly, collecting blood sample DNA of two specific gene carriers, a pre-certified person or a last generation of relatives; constructing an STR haplotype, designing an STR site primer for amplification, and determining a family haplotype through electrophoretic analysis; the method comprises the following steps: carrying out whole genome amplification on a collected trace free DNA sample of a trace cell or embryo culture solution by using a Pi coPLEX method, respectively designing primers for amplification products aiming at monogenic disease types and mutation sites, and directly detecting pathogenic genes; performing second-generation sequencing, and comparing with a normal sequence to analyze and judge the copy number of chromosomes; primer amplification is designed according to the constructed family distinguishing type STR site, STR site haplotype information is obtained, whether a specific gene variation chain is inherited or not is judged, and therefore an euploid embryo which does not carry a specific gene is efficiently screened out.

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 invention relates to the field of molecular biology, and more specifically to a composition, kit, and application thereof for detecting ATP7B gene polymorphisms. This method uses a PCR-based fluorescent probe melting curve method to determine common single-nucleotide polymorphisms (SNPs) in the ATP7B gene, a pathogenic gene for hepatolenticular degeneration, in genomic DNA from human peripheral venous whole blood samples. Compared to traditional PCR-based SNP detection methods, this method enables multiplexed detection within a single tube, significantly improving detection throughput. Compared to first- and second-generation sequencing methods and other methods, it offers advantages such as ease of operation, low cost, and shortened detection time.

The invention discloses a probe group for detecting copy number variation of pathogenic genes of limb development defect diseases as well as a design method, a kit and application of the probe group, and belongs to the technical field of biomedicine. The probe group comprises probes of which the nucleotide sequences are as shown in SEQ ID NO. 1 to SEQ ID NO. 516. The invention also discloses a design method of the probe group, a kit comprising the probe group, and a method for detecting copy number variation of the pathogenic gene of the limb development defect disease by using the probe group or the kit. The probe group and the kit provided by the invention can realize high-throughput, high-resolution, high-accuracy and low-cost copy number variation detection.

The invention relates to a gene vector for CSF1R (Classical Sequence Factor 1R) related white matter encephalopathy as well as a construction method and application of the gene vector. The gene vector is AAV.MG1.1-Trem2. The gene vector disclosed by the invention can be used for increasing the expression content of the Trem2 of the microglial cells and compensating the dysfunction of the pathogenic gene CSF1R, so that the microglial cells can exert normal functions.

The present application relates to the technical field of biology, and relates to an siRNA targeting glioblastoma multiforme and a use thereof. Provided is an siRNA targeting glioblastoma multiforme. An antisense strand of this siRNA can specifically bind to a target nucleic acid to initiate degradation of the target nucleic acid, wherein the target nucleic acid comprises a pathogenic gene in glioblastoma multiforme, and the pathogenic gene in glioblastoma multiforme comprises a gene encoding ribonucleotide reductase subunit M2 and / or a gene encoding heat shock protein 47. Studies have shown that both the gene encoding the ribonucleotide reductase subunit M2 and the gene encoding the heat shock protein 47 have a significant correlation with the survival of patients with glioblastoma multiforme. The two genes can be used as therapeutic targets for glioblastoma multiforme. The siRNA capable of effectively knocking down the expression of the two genes in the patients with glioblastoma multiforme has great application prospects in the preparation of drugs for preventing and / or treating glioblastoma multiforme.

The present application provides a method, device, computer equipment and medium for detecting pathogenic genes. Among them, the method includes: screening the genes in the extracted cells based on the pathogenic gene database, and determining the pathogenic gene set; determining the pathogenic gene carrying value according to the pathogenic gene set; comparing and analyzing the pathogenic gene carrying value according to the historical gene detection data, and outputting the detection result. Among them, the pathogenic gene database includes a variety of pathogenic genes. The pathogenic gene set is a set of genes in the extracted cells that are the same as the pathogenic genes in the pathogenic gene database. The pathogenic gene carrying value is used to indicate the proportion of key pathogenic genes in the genes of the extracted cells. Through the above method, the pathogenic genes that the target object may carry can be detected more comprehensively, and the risk of disease of the target object can be predicted so as to prepare in advance.

The invention relates to the technical field of gene diagnosis, and particularly discloses PRX and DIAPH3 gene mutants and application thereof. On one hand, the invention relates to a PRX gene mutant and application thereof in Dejerine-Sotta disease screening, and on the other hand, the invention relates to a DIAPH3 gene mutant and application thereof in autosomal dominant auditory neuropathy 1 type screening. According to the invention, the pathogenic gene spectrum of autosomal dominant auditory neuropathy type 1 and Dejerine-Sotta disease is broadened, the understanding of clinical doctors on the diseases is enhanced, experience is provided for clinical screening and diagnosis of the diseases, and particularly, pre-pregnancy screening is facilitated; a research direction and a new theoretical basis are provided for early diagnosis and effective treatment of the diseases, and a new molecular target is also provided for research and development of specific drugs for treating the diseases in practice.

The invention relates to the technical field of bacterial detection, in particular to a primer composition for simultaneously detecting pathogenic bacteria genes and drug-resistant genes, a detection method and a detection device. The core of the invention lies in synchronous detection of two main bacteria causing sepsis, namely burkholderia pseudomallei and klebsiella pneumoniae, and key drug-resistant genes by using a loop-mediated isothermal amplification (LAMP) technology. Specifically, the primer composition comprises nucleotide sequences as shown in SEQ ID No.1-17, and can be used for detecting a burkholderia pseudomallei recA pathogenic gene, a kfB pathogenic gene of klebsiella pneumoniae, a quinolone antibiotic drug-resistant gene qnrA and a carbapenem antibiotic drug-resistant gene OXA-48 in a targeted manner. The primer composition disclosed by the invention can be used for simultaneously detecting various pathogenic bacteria genes and drug-resistant genes causing sepsis, the detection process is convenient, rapid and accurate, the detection result can be obtained within 40 minutes, and the detection effect is better.

The invention discloses a system for screening Reiye's syndrome based on NOD2 gene new pathogenic mutation. The invention provides a computer device. The computer device comprises a memory, a processor and a computer program stored in the memory, the processor executes the computer program to implement the following steps: receiving NOD2 gene data (cDNA sequence) of a person to be tested; the method comprises the following steps: reacting the NOD2 gene with any one of the following mutations in SEQ ID No.2 stored in a computer: c.380Cgt; t, c, 2657Cgt; t, c.328Ggt; a, c.1295Cgt is selected from the group consisting of the T, c, 1981Ggt; c, and c, 2452Agt; c) performing comparison; and according to a comparison result, outputting information about whether the to-be-detected person is or is suspected to be a patient with the Reiderson's syndrome or about the risk of suffering from the Reiderson's syndrome. The novel pathogenic gene mutation form related to the NOD2 gene of the patient with the Reidersi syndrome is found, the novel pathogenic gene mutation form can serve as a target object to be used for developing a reagent and a computer device for diagnosing or screening the Reidersi syndrome, and the novel pathogenic gene mutation form has important significance on diagnosis and screening of the Reidersi syndrome.

This invention relates to a kit and method for detecting pathogenic genes of hereditary macular degeneration (AMD). The kit includes a hybridization mixture containing a probe set for detecting AMD pathogenic genes. The probe set includes capture probes capable of simultaneously and specifically capturing pathogenic genes ABCA4, BEST1, PRPH2, ELOVL4, PROM1, IMPG1, IMPG2, EFEMP1, RP1L1, and TIMP3, as well as the pathogenic regions of MCDR3 and MCDR1. The capture probes capturing the pathogenic regions of MCDR3 and MCDR1 include probes with sequences shown in SEQ ID NO. 1-174 and SEQ ID NO. 175-235, respectively. This invention proposes a targeted amplification strategy for the non-coding pathogenic region of NCMD, successfully detecting two novel point mutations and one genomic structural variation, achieving the detection of point mutations and structural variations in non-coding regions.