91 results about "Disease gene" patented technology

The invention provides a genetic disease gene detection data analysis method and system based on big data, and relates to the technical field of gene detection data analys.The genetic disease gene detection data analysis method comprises the steps that quality control and duplicate removal are conducted on gene sequencing original data, sequence comparison and variation detection are conducted, and a standard variation detection report is generated; performing multi-scale feature sampling and optimization by using an improved random field diffusion model, inputting high-dimensional feature distribution into a dual self-activation iterative network for feature extraction and integration to obtain a feature mapping matrix and a feature evolution trajectory, and inputting the feature mapping matrix and the feature evolution trajectory into an integrated predictor to obtain an integrated predictor; and in combination with Gaussian mixture process regression analysis and an improved Bayesian reasoning network, establishing a risk association network and training a deep hierarchical decision tree, and outputting a multi-dimensional risk assessment report.

The invention provides a key node identification method for a disease marker expression regulation network, and belongs to the technical field of disease markers, and the method comprises the steps: firstly carrying out the preprocessing and quality control of original data, including batch effect removal, abnormal sample identification and the like; then identifying differential expression genes through multiple difference analysis and a pre-training model, and constructing a gene expression correlation network; and integrating multi-source regulation and control data to construct a multi-level weighted network, calculating network node features, and carrying out representation learning and module division. And based on multi-dimensional features such as network topology features, module contribution degree and biological importance, a neural network model is trained to carry out key node identification. And finally, optimizing the model through multi-layer verification such as pathway enrichment, disease gene overlapping, expression stability, time sequence change and network disturbance, and finally obtaining a verified key node set. The problem that in the prior art, the interaction relation between molecules is ignored, and consequently some key regulation and control nodes are possibly missed is solved.

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 technical field of biomedical data analysis, and discloses a data analysis method and system for genetic disease gene detection and a storage medium, and the method comprises the following steps: collecting a patient sample, and carrying out high-throughput sequencing to obtain original data; performing quality control and comparison processing on the data to generate variation detection data, and calculating variation information amount; suspicious variation sites are automatically screened, variation information amount is analyzed based on information entropy, and key variation is screened according to a preset threshold; performing Bayesian inference analysis on the key variation, calculating pathogenicity probability, and performing pathogenicity judgment based on an ACMG standard; calculating the matching degree of the key variation and the phenotype in combination with the phenotype information of the patient, and screening the variation conforming to phenotype characteristics; submitting the screening result to a doctor for auditing, and generating a final screening result; and generating a standardized gene detection report according to a final result. According to the method, pathogenic variation is efficiently and accurately recognized, and the automation level and clinical application value of genetic disease gene detection are improved.

The invention provides a method for predicting miRNA-lncRNA-disease ternary correlation through deep tensor decomposition and hypergraph convolution, and relates to the technical field of miRNA-lncRNA-disease ternary correlation prediction. Comprising six steps of integration of multi-source heterogeneous data, generation of three-dimensional tensor representation, hypergraph convolution modeling high-order interaction, graph attention network feature refining, depth graph convolution network enhancement and correlation prediction. Node features in a graph attention self-adaptive refining similarity network are integrated, global structure learning is enhanced by adopting a depth graph convolutional network, and the combination can generate stable and information-rich embedding for final ternary correlation prediction, so that potential complex correlation among various biological entities such as diseases, genes and drugs can be accurately extracted, and the prediction accuracy is improved. The potential relation and mechanism between the biological entities are further disclosed, and comprehensive ternary correlation prediction is achieved.

The invention discloses a method, a device, equipment, a medium and a product for evaluating the effect of traditional Chinese medicine on diseases, and relates to the technical field of pharmacology of traditional Chinese medicine, the method comprises the following steps: acquiring a disease data set and a traditional Chinese medicine data set of a target disease; extracting a disease target entity from the disease data set by adopting a large language model, and extracting a medicinal material entity from the traditional Chinese medicine data set; constructing a disease gene network according to each disease target entity and a Barabas PPI network; constructing a medicinal material gene network according to the target traditional Chinese medicine formula, the medicinal material entities and a Barabas PPI network; the similarity between the disease gene network and the medicinal material gene network is calculated, the similarity is used for representing the effect of the target traditional Chinese medicine formula on the target disease, and quantitative evaluation of the effect of the traditional Chinese medicine on the disease can be achieved.

The invention belongs to the technical field of aquaculture biological breeding, and particularly relates to a KASP marker of a vibrio harveyi resistant gene jam2a of cynoglossus semilaevis and application of the KASP marker. The KASP markers are respectively positioned at 14: 17 279470, 14: 17 281640 and 14: 17 283306 sites of the 14 # chromosome of the cynoglossus semilaevis, the polymorphism of the sites is T / C, G / T and T / A, and when the genotypes of the three sites are respectively homozygous TT, homozygous GG and homozygous TT, the tested individual of the cynoglossus semilaevis is a disease-resistant individual. The KASP marker significantly associated with the jam2a gene provided by the invention can be used for molecular marker-assisted breeding of the vibriosis resistance character of the cynoglossus semilaevis, and provides important technical support for improving the breeding efficiency of disease resistance of the cynoglossus semilaevis.

The invention discloses a specific molecular marker linked with a wheat powdery mildew resistance gene PmCad as well as an identification primer and application of the specific molecular marker, and relates to the technical field of biotechnology and genetic breeding. The molecular marker comprises a molecular marker 2BS509-2 and a molecular marker 2BS509-7. The nucleotide sequence of the molecular marker 2BS509-2 is as shown in SEQ ID NO. 1, and the nucleotide sequence of the molecular marker 2BS509-7 is as shown in SEQ ID NO. 2. The invention also provides an identification primer for identifying the molecular marker, and the nucleotide sequences of the identification primer are shown as SEQ ID NO.3, 4, 5 and 6. The identification primer can also be used for preparing a kit, can be used for identifying the powdery mildew-resistant character of wheat and creating a powdery mildew-resistant wheat strain, and has a potential application prospect in the field of wheat breeding.

The invention discloses a Cg12n-v4.6 nuclease. The amino acid sequence of the nuclease is as shown in SEQ ID No. 12. The invention also discloses a preparation method of the nuclease. The Cg12n-v4.6 nuclease mutant with increased activity and improved editing efficiency is developed, and the editing efficiency of the Cg12n-v4.6 nuclease mutant is up to 70% or above. Meanwhile, through engineering modification of corresponding sgRNA of Cas12n, the size of the sgRNA skeleton is reduced. An enhanced Cas12n gene editing tool, namely an eCg12n gene editing system, is developed by combining an engineered Cg12n-v4.6 nuclease mutant and a simplified sgRNA skeleton. Meanwhile, by fusing deaminase, a compact cytosine base editor and a compact adenine base editor are constructed, and the cytosine base editor is applied to edit and induce disease genes to generate early termination codons, so that safe knockout of the genes is realized. Compared with an original wild type editing system, the Cg12n-v4.6 nuclease mutant and a compact eCg12n gene editing system derived from the Cg12n-v4.6 nuclease mutant have the advantages that the editing efficiency is improved, the system size is further simplified, and the Cg12n-v4.6 nuclease mutant and the compact eCg12n gene editing system derived from the Cg12n-v4.6 nuclease mutant are more suitable for gene editing application.

The invention belongs to the technical field of genes, and particularly relates to an amplification primer group of a renal cyst disease gene PKD1, a mutation detection method and application, the amplification primer group comprises four pairs of primers for specifically amplifying first to 34 exons of the PKD1 gene; the mutation detection method comprises the following steps: acquiring genome DNA (Deoxyribose Nucleic Acid); carrying out ultra-long fragment PCR amplification on the genome DNA through the primers, carrying out electrophoresis detection, and purifying a target fragment; mixing the purified amplification product with genome DNA in proportion, constructing a sequencing library, and performing high-throughput sequencing through target area capture; and analyzing sequencing data, and screening pathogenic PKD1 gene mutation. Compared with the prior art, the PKD1 ultra-long fragment PCR amplification primer and the renal cyst disease gene PKD1 mutation detection method have the advantages that true and false genes of PKD1 can be distinguished, the diagnosis accuracy is greatly improved, the operation process is simplified, the timeliness is improved, and the detection flux is improved.

To provide: means for enhancing the fungal resistance of polar using genetic engineering means by exploring infections, disease-resistant genes and internal signal pathways related to poplar against S. musiva infection: and means for improving the disease resistance of poplar by exploring the related mechanisms.SOLUTION: A PtMAPK3-1 gene is a poplar MAPK cascade gene family member and plays an important role in stress resistance and a disease resistance process of poplar. According to the invention, it is discovered that through construction of an expression vector and agrobacterium tumefaciens transgenic overexpression MAPK3-1, accumulation of ROS in a poplar body after overexpression PagMAPK3-1 is infected by S.musiva provides nutrition for further infection and reproduction of pathogenic fungi in a plant body, and the PagMAPK3-1 in a K8 poplar plays a negative regulation role in poplar disease resistance reaction. The invention provides a molecular marker for screening disease-resistant poplar varieties, and also provides a regulation and control means for improving the disease resistance of poplar.SELECTED DRAWING: Figure 5

The application of the primer for detecting the anti-disease gene of the Eriocheir sinensis in identifying the disease resistance of the parent of the Eriocheir sinensis comprises the following steps: (1) respectively extracting RNA (Ribonucleic Acid) of the Eriocheir sinensis, and carrying out reverse transcription to obtain cDNA (Complementary Deoxyribonucleic Acid) of the Eriocheir sinensis; (2) designing a primer combination according to the sequence of the lysozyme gene of the eriocheir sinensis and the sequence of the C-type lectin 4 gene, performing PCR amplification on the cDNA sample of the eriocheir sinensis by utilizing the primer combination to obtain a target fragment, and detecting and confirming that the target fragment is amplified by utilizing agarose gel electrophoresis; (3) obtaining a cDNA sequence by a first-generation sequencing means, carrying out sequence comparison, identifying SNP sites in gene coding regions of the lysozyme gene and the C-type lectin 4 gene, and analyzing the two genes and a combination thereof; and comparing the differences of the disease resistance of the genotypes, and screening to obtain the genotype with the strongest disease resistance and the combined marker primer thereof.

The invention belongs to the technical field of biological medicines, and particularly relates to application and a method of PHF20 in preparation of a medicine for treating systemic lupus erythematosus and the medicine. The invention discloses an application of PHF20 in treatment of systemic lupus erythematosus, a lentivirus with murine PHF20 is selected as a gene therapy tool, an R848 induced lupus mouse model is taken as an experimental subject for gene therapy, and results show that injection of the overexpressed PHF20 lentivirus in a lupus mouse body has the following effects: (1) spleen swelling is improved, and spleen index is significantly reduced; (2) reducing urine protein, urea nitrogen level, anti-dsDNA antibody level and IgG antibody level of the model mouse; and (3) the pathological damage to the kidney of the model mouse is relieved. The research results show that the PHF20 serving as the target provides important reference value for potential application prospects in systemic lupus erythematosus gene therapy and even autoimmune disease gene therapy.

The application discloses a traditional Chinese medicine compound analysis method based on a multi-dimensional data and information weighted network, and belongs to the field of traditional Chinese medicine compound analysis. The method comprises the following steps: constructing a multi-dimensional disease gene set; acquiring a traditional Chinese medicine compound set and a target set; determining disease gene nodes, compound nodes and target nodes respectively, and constructing a heterogeneous correlation network; performing propagation node screening on the heterogeneous correlation network, and weighting the edge set of the heterogeneous correlation network; running three algorithms on the updated heterogeneous correlation network respectively, and performing equal-weight average fusion on the propagation results of the three algorithms to obtain a final weighted network correlation degree score; sorting the final weighted network correlation degree score from high to low to obtain a key target candidate list; and selecting the first N candidate targets in the key target candidate list for enrichment analysis. The application solves the problems of single data source, lack of functional semantic support in network construction, static node evaluation index, and disconnection between enrichment analysis and core algorithm in the prior art.

This invention relates to the packaging and screening of viral vectors, particularly to the packaging and screening of AAV mutants, specifically an adeno-associated virus mutant that efficiently infects HT-22 cells. By constructing a peptide mutant library of AAV9, a new AAV9 mutant with seven inserted amino acids was obtained through screening and verification. This mutant can effectively infect HT-22 cells at an MOI of 1E+5, achieving a higher infection rate than the natural AAV9 serotype at MOI=1E+5. The AAV9-HT01 mutant obtained after screening showed the best effect, with a significantly higher infection positivity rate compared to the control AAV9 serotype under the same MOI conditions. The fold increase was 4.4-fold as measured by luciferase (RLU) value detection. This effectively reduces the amount of AAV cells used for infection, saving experimental costs, and simultaneously makes it feasible to study the mechanisms of gene therapy for central nervous system diseases in HT-22 cells.

The application discloses a kind of preparation and application of multi-target small nucleic acid drug based on small activation RNA technology, and is related to the field of biotechnology.The preparation method of the multi-target small nucleic acid drug includes the following steps: (1) selecting at least two anti-disease genes according to target disease;(2) intercepting the sequence of 1000 base pairs of the promoter region upstream of the coding region of the anti-disease gene;(3) according to the promoter sequence, avoid CpG island and locate the segment of species conservation, and cut a sequence containing 19 base length as a sense strand;(4) design an antisense strand according to the sense strand, and the 19 base of the antisense strand and the sense strand are completely complementary;(5) add two deoxythymine or uracil to the 3' end of each chain.The multi-target small nucleic acid drug has good therapeutic effect on heart failure, and has strong cancer cell killing ability and inhibition ability of cancer cell migration, and has wide application prospect.

The invention discloses a biomolecular interaction prediction method based on multi-modal attention fusion, and belongs to the technical field of artificial intelligence drug discovery. The method comprises the following steps: acquiring multi-modal characteristics of drugs, targets, diseases and genes: sequence structure characteristics, 3D structure characteristics, similarity network characteristics and biological relation network embedding characteristics; constructing a feature fusion prediction model, and performing training; inputting the multi-modal features of the two biological entities into the trained feature fusion prediction model, and outputting the probability of interaction of the two biological entities; the feature fusion prediction model comprises a Transform encoder and an MLP (Markup Language Protocol) network; the multi-modal features are input into a feature fusion prediction model for stacking and then are input into a Transform encoder, the features are processed by using a multi-head self-attention mechanism, and an output result is flattened and subjected to dimension reduction processing to obtain embedded vector representation; and finally, performing element corresponding multiplication on the embedded vectors of the two biological entities, inputting the embedded vectors into an MLP network, and outputting an interaction probability between the two biological entities.

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 invention relates to a conjugate for transferring an effector molecule from outside a cell into said cell, the conjugate comprising at least one effector molecule to be transferred into the cell, at least one saponin of the mono-desmosidic triterpene glycoside type or the bi-desmosidic triterpene glycoside type, and at least one single-domain antibody (sdAb), covalently bound to each other, wherein the sdAb is capable of binding to a cell-surface molecule of said cell. The invention also relates to a pharmaceutical composition comprising the conjugate of the invention. Furthermore, the invention relates to a pharmaceutical composition of the invention, for use as a medicament. In addition, the invention relates to a pharmaceutical composition of the invention, for use in the treatment or the prophylaxis of any one or more of: a cancer, an auto-immune disease such as rheumatoid arthritis, an enzyme deficiency, a disease related to an enzyme deficiency, a gene defect, a disease relating to a gene defect, an infection such as a viral infection, hypercholesterolemia, primary hyperoxaluria, haemophilia A, haemophilia B, alpha-1 antitrypsin related liver disease, acute hepatic porphyria, an amyloidosis and transthyretin-mediated amyloidosis. The invention also relates to an in vitro or ex vivo method for transferring the conjugate from outside a cell to inside said cell or for transferring the effector molecule comprised by the conjugate of the invention from outside a cell to inside said cell, preferably to the cytosol of said cell.

The invention relates to the technical field of biology, in particular to a vitis davidii susceptible gene VdTLP19 as well as an encoding protein and application of the vitis davidii susceptible gene VdTLP19. The vitis davidii susceptible gene VdTLP19 is located on a chromosome 2 of vitis davidii and is distributed in a region 3655997-3656642, and the nucleotide sequence of the vitis davidii susceptible gene VdTLP19 is shown as SEQ ID No.1. The amino acid sequence of the protein coded by the gene is as shown in SEQ ID No.2. And after the vitis davidii susceptible gene VdTLP19 is silenced, the resistance of grape fruits to pathogenic bacteria is enhanced. After the VdTLP19 gene provided by the invention is silenced, the resistance of grapes to anthracnose can be improved, and a theoretical basis is provided for grape anthracnose resistance breeding.

To provide a gene therapy vector comprising a polynucleotide sequence encoding a LAMP-2 polypeptide for use as a therapeutic in the treatment of Danon Disease, as well as methods of use thereof, pharmaceutical compositions, and more.SOLUTION: The disclosure provides a recombinant AAV vector having AAVrh74 serotype expressing LAMP-2A, LAMP-2B, or LAMP-2C for use as a therapeutic in, for example, Danon Disease.SELECTED DRAWING: Figure 1

The application provides a nucleic acid test strip and a detection method for detecting smut genes, and belongs to the technical field of detection. The application comprises a bottom plate, a sample pad and a water absorption pad; an NC film is attached to the bottom plate, the NC film is provided with a T line and a C line, the T line is sprayed with a coupling agent of a capture probe and streptavidin; the C line is sprayed with a coupling agent of a quality control probe and streptavidin; the quality control probe is complementary to a DNA sequence of a DNA1-AgInS2 / ZnS fluorescent probe. The application utilizes the advantages of AgInS2 / ZnS quantum dots (AgInS2 / ZnS QDs), such as good biocompatibility, high fluorescence intensity and wide spectral range. The test strip based on AgInS2 / ZnS quantum dots has higher sensitivity and stronger quantitative capacity than traditional test strips. The fluorescence ratio of the T line and the C line is detected by using a fluorescence immunoassay instrument for quantitative detection, the fluorescence immunoassay instrument can quickly read out the value, and has the advantages of rapidness, simple operation, low sensitivity, good selectivity and the like.

The present invention provides a novel gene-therapeutic agent for neurodegenerative diseases. The present invention allows AB variants to be secreted out of cells and continuously supplies tau inhibitor peptides in the cells to allow wt Aβ polymerization and wt tau polymerization to be slowed or inhibited and cytotoxicity to be reduced in the human body, and thus exhibits excellent effects of preventing, alleviating, and treating neurodegenerative diseases.

Provided is a platform for expressing a protein of interest by artificially manipulating the liver, and more particularly, to a platform for alleviating or treating a genetic disorder or improving a body function by inducing expression by inserting a transgene (e.g., a therapeutic gene) which can function or be expressed normally, into a high-expression secretory gene, instead of a disease gene which functions or is expressed abnormally. The high-expression secretory gene includes the HP or APOC3 gene. The transgene includes one that is highly expressed using a promoter in a hepatocyte genome and is secretory out of the cell.

The utility model relates to the technical field of gene detection, in particular to an autoimmune disease gene detection device which comprises two supporting frames fixedly installed at the top of a base, first electric telescopic rods are fixedly installed on the inner sides of the supporting frames, and first movable plates are installed at the output ends of the first electric telescopic rods. A first movable plate is driven by a first electric telescopic rod, so that the first movable plate is in sealed butt joint with a protection frame, a kit above the first movable plate is protected, reagents in the kit are better isolated from the outside, a round hole is shielded and sealed by a baffle, the kit can be isolated from the outside when detection is not carried out, and the detection efficiency is improved. By arranging a second protective shell and a baffle, the detection chip can be isolated and protected, so that the detection chip and the kit are independently protected, cross contamination between the detection chip and the kit is reduced, the accuracy of the detection device is improved, and a final detection result is effective.

The invention provides application of a DTX29 gene and a protein thereof in improving the resistance of plants to phytophthora infestans. The invention finds a susceptible gene DTX29 capable of effectively improving the resistance of plants to phytophthora infestans through a large number of researches. The DTX29 gene of the plant is edited through a CRISPR-Cas technology and the like, so that the function of the DTX29 gene is lost, the resistance of the plant to phytophthora infestans can be effectively improved, the diameter and area of disease spots and the relative biomass of phytophthora infestans are reduced, and normal growth and development of the plant are not influenced. The invention provides a new target and idea for prevention and control of plant diseases caused by phytophthora infestans.

The invention relates to a disease similarity prediction method and system based on multivariate data fusion, and the method comprises the steps: collecting gene network data, miRNA network data, a disease-gene incidence matrix and a disease-miRNA incidence matrix, and forming a unified heterogeneous biological network; extracting and generating a multi-modal feature set through the graph convolutional network and the improved graph attention network; the independent weight of each feature in the multi-modal feature set is calculated through a multi-layer perceptron, gene view angle embedding and miRNA view angle embedding of the disease are generated in combination with the incidence matrix and serve as model input training, and a lightweight bilinear tower model is obtained; model parameters are optimized through an alternate training strategy and a regularization mechanism inspired by ReconBoost, an optimized lightweight bilinear tower model is obtained, and a similarity prediction result of the target disease pair is obtained. The defects of multivariate data integration, sparse data processing and prediction stability in the prior art are effectively overcome.

The invention discloses an application of a rice susceptible gene Os10g0506100 and an encoding protein thereof in regulation and control of plant disease resistance. The nucleotide sequence of the rice susceptible gene Os10g0506100 is as shown in SEQ ID NO: 1, and the coded protein sequence is as shown in SEQ ID NO: 2. The Os10g0506100 gene is knocked out in rice through an RISPR / Cas9 technology, it is found that the resistance of rice to rice blast can be remarkably improved through knockout of the gene, and an effective way can be provided for rice breeding and disease-resistant variety improvement.

The invention relates to the technical field of gene engineering, in particular to application of a CsCPK11 gene in cucumber powdery mildew resistance, and the CsCPK11 gene is a nucleotide sequence capable of coding the following protein (a) or (b): (a) a protein composed of an amino acid sequence as shown in SEQ ID NO: 2; and (b) a protein which is derived from (a) and has the same enzyme activity, wherein one or more amino acid sequences are substituted, deleted or added into the amino acid sequence in (a). According to the present invention, by analyzing the anti-disease gene contained in the cucumber and instantaneously silencing the CsCPK11 gene through the VIGS, the new gene related to the cucumber powdery mildew is found, such that the important significance is provided for the analysis of the molecular mechanism of the cucumber powdery mildew resistance and the cultivation of the cucumber with the powdery mildew resistance.

The invention discloses an application of a black spot resistant gene PuSAP3 in plant disease-resistant genetic breeding. The gene PuSAP3 containing the A20 / AN1 type zinc finger transcription factor is separated and cloned from a disease-resistant germplasm, namely pyrus ussuriensis, and the sequence of the gene PuSAP3 is as shown in SEQ ID NO. 1. The gene is used for respectively constructing an over-expression vector and a silent vector, and the over-expression vector and the silent vector are introduced into pear seedlings through an agrobacterium tumefaciens-mediated genetic transformation method to respectively obtain a stably expressed over-expression strain and a TRV-mediated silent strain for disease-resistant function analysis. The result shows that the PuSAP3 transcription factor gene obviously improves the pathogenic bacterium resistance of the plant. Exploration of the gene provides important potential gene resources for plant disease-resistant molecular breeding, provides new insight for disease-resistant breeding of fruit trees and even other crops, and provides assistance for implementation of green agriculture in China.