192 results about "Gene Mutant" patented technology

To provide a pharmaceutical composition for treating a cancer patient having a tumor having a total passenger gene mutation amount larger than the background mutation amount of the tumor.SOLUTION: A pharmaceutical composition for treating a subject having a tumor with a total passenger gene mutation load that is greater than the background mutation load of the tumor, wherein the background mutation load has been determined based on randomly selected genes of the tumor, comprising antibodies that bind to PD1 as an active ingredient. Antibodies that bind PD1 comprise a heavy chain variable region (HCVR) comprising the amino acid sequence of SEQ ID NO: 21 and / or comprise a light chain variable region (LCVR) comprising the amino acid sequence of SEQ ID NO: 22.SELECTED DRAWING: Figure 1

The present invention belongs to the technical field of biological prevention and treatment for viral diseases. Disclosed in the present invention are a tomato disease-resistant gene mutant, and the use thereof in the prevention and treatment of ToBRFV. It is found in the present invention that mutating the nucleotide at position 1927 of the coding region sequence of tomato Tm-22 gene from G to A, or mutating the amino acid at position 643 of the LRR domain of a protein that is encoded by tomato Tm-22 gene from glycine to arginine can remarkably reduce the accumulation level of ToBRFV capsid protein (CP). The gene (named Tm-22-Mut5) can serve as a novel ToBRFV resistant gene, and also retains the resistance to TMV, ToMV and ToMMV. The Tm-22-Mut5 and a pre-screened Tm-22-Mut3-1 mutant (tyrosine at position 767 of the LRR domain thereof is mutated to phenylalanine) undergo combinatorial mutagenesis to obtain a mutant Tm-22-Mut6. Analysis shows that the Tm-22-Mut6 can remarkably reduce the accumulation level of the ToBRFV capsid protein. Compared with the pFGCTm-22-Mut3-1 mutant obtained by screening in the previous research and the newly obtained mutant Tm-22-Mut5, the Tm-22-Mut6 has further improved resistance to ToBRFV.

The invention relates to the technical field of biology, in particular to a cis-trans typing method for drug-resistant gene mutation EGFR T790M / C797S. The invention provides an EGFR (Epidermal Growth Factor Receptor) T790M / C797S cis-trans typing method based on a locked nucleic acid LNA (Low Nucleic Acid) probe, ultrahigh-specificity DNA (Deoxyribose Nucleic Acid) polymerase and a primer probe combination. The typing method can be used for accurately distinguishing EGFR T790M / C797S double-mutation cis-configuration and trans-configuration; meanwhile, the kit has the advantages of high sensitivity, high specificity, simple steps and low cost, is suitable for detecting low-abundance samples such as circulating tumor DNA (ctDNA) and can meet the clinical rapid detection requirement.

The invention discloses a plant gene function analysis method (FAGEN), and belongs to the technical field of molecular genetics and functional genomics. The method comprises the following steps: constructing a target gene mutant by using a gene editing technology; hybridizing the mutant and the corresponding wild type as a common parent with a plurality of parents with different genetic backgrounds to construct a pair F1 group; an F2 group is obtained through selfing; and determining phenotypic data of target characters of F1 and F2 populations, and comparing phenotypic differences of filial generations of wild types and mutants under different genetic backgrounds to judge the functions of the target genes. The method has the advantages of simplicity in operation, flexibility in design, short construction period and low cost, and gene functions can be efficiently and accurately analyzed under various genetic backgrounds.

Provided are a primer probe set, a method, an agent and a kit which are used for detecting an ESR1 gene mutation on the basis of cfDNA. The primer probe set comprises a primer probe set in a first container and a primer probe set in a second container. The primer probe set in the first container comprises a primer pair specific for ESR1 gene E380Q. The primer probe set in the second container comprises a primer pair specific for ESR1 gene L536H. The primer probe set in the first container further comprises a first specific probe, a second specific probe, and a first blocking probe, and the primer probe set in the second container further comprises a third specific probe and a second blocking probe.

This invention belongs to the fields of locust biotechnology and gene editing technology, specifically relating to a method for preparing locusts. Crz Methods using gene mutants and their application in locust control. This invention discovers that inhibiting gene mutants in locusts... Crz Gene expression can be used to control locusts. Crz The gene sequence is shown in SEQ ID NO:3. This invention successfully established a homozygous Crz mutant strain of the migratory locust using gene editing technology. It was found that the albino migratory locusts obtained after Crz deletion were more easily preyed upon by natural enemies than the wild-type locusts, exhibited significantly lower levels of the aggregation pheromone 4VA, and showed weaker adaptability to low temperatures compared to the wild type. This provides a new strategy for the biological control of migratory locusts and can also serve as a reference for the biological control of other pests.

The invention relates to the field of gene mutation detection, and particularly discloses a POCT (point-of-care testing) detection method for V617F mutation of a human JAK2 gene. According to the method, an integrated detection tube is divided into a cell lysis-nucleic acid binding magnetic bead area, a nucleic acid cleaning area and a nucleic acid elution-amplification area from top to bottom in sequence through a plurality of hydrophobic layers, the cell lysis-nucleic acid binding magnetic bead area is pre-filled with a lysis solution, the nucleic acid cleaning area is pre-filled with a nucleic acid cleaning solution, and the nucleic acid elution-amplification area is pre-filled with a nucleic acid elution solution. A nucleic acid elution-amplification system is pre-installed in the nucleic acid elution-amplification area, in the detection process, only a sample needs to be added into the cell lysis-nucleic acid binding magnetic bead area, a corresponding instrument is inserted, and operation is conducted, so that nucleic acid extraction, amplification and result reporting can be completed, and additional manual processing steps are not needed. The method has the advantages of simplicity and convenience in operation, short time consumption, high sensitivity, strong specificity, low pollution risk and the like, can be directly used for whole blood sample detection, meets the rapid diagnosis requirements of clinical outpatient service, and is particularly suitable for auxiliary diagnosis of BCR-ABL negative myeloproliferative tumors.

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 present application relates to the technical field of gene mutation prediction, and discloses a gene mutation prediction method generated by multi-mode annotation, and the specific process comprises the following steps: carrying out mutation type annotation on input single-base mutation position information to obtain mutation basic information containing mutation types, then using an ANNOVAR annotation tool, SpliceAI splicing effect prediction software and reference mutation information of a function effect database to carry out multi-dimensional feature annotation, using Bayesian PCA based on the obtained multi-dimensional feature mutation data set to fill in the annotation data, then using an automatic engineering feature list and a separated feature selection list to carry out feature combination and screening, and obtaining a gene mutation prediction score after gradient generation tree algorithm. The present application can be used for predicting all non-synonymous exon mutations, has good performance in classifying rare benign mutations, and can identify a small amount of mutations with high pathogenic probability from a large amount of candidate mutations.

A duchenne muscular dystrophy-related exonic splicing enhancer, sgRNA and gene editing tool can be applied in the preparation of drugs for treating duchenne muscular dystrophy. The gene editing tool designed on the basis of cytosine deaminase AID mutants and Cas9 mutants can perform site-specific modification on a mammalian genome by using an adeno-associated virus (AAV) as a vector. By optimizing an encoding nucleic acid sequence and an element composition structure of the editing tool, site-specific targeted modification of mammalian genetic material DNA can be efficiently achieved; and by performing targeted genetic manipulation on the nucleic acid sequence carrying disease mutations, a pathogenic mutation cannot be retained in a mature protein amino acid sequence or the pathogenic mutation cannot perform its function, so that the purpose of treating various gene mutation type genetic rare diseases is achieved, and the advantages of high efficiency, safety and stability are achieved.

This application belongs to the field of molecular biology technology, specifically relating to nucleic acid combo products, kits for mycobacterial identification, and their applications. This application provides a nucleic acid combo product for mycobacterial detection, comprising one or more primer pairs with nucleotide sequences as shown in SEQ ID NO.1 to SEQ ID NO.244. This specific primer combination can simultaneously detect multiple mycobacteria and distinguish them down to the subspecies level. Through highly specific primer design, this nucleic acid combo product can achieve accurate identification of common clinical mycobacteria (including complex groups, species, and subspecies levels), with a detection sensitivity of 50-100 CFU / mL, significantly superior to the detection performance of existing technologies. Furthermore, the nucleic acid combo product of this application can not only identify the species of mycobacteria but also simultaneously detect drug resistance gene mutations, providing important evidence for the selection of clinical treatment regimens.

The application discloses a novel Rdl gene mutant with V332I mutation, and a method for detecting insect resistance to broflanilide. The gene mutant is characterized in that the base of the amino acid at the 332th position is mutated from GTT, GTC or GTA to ATT, ATC or ATA, and the encoded amino acid sequence is mutated from valine (V) in the wild type to isoleucine (I). The V332I mutation site can be used for molecular detection of insect resistance to broflanilide, and also provides an important reference for research and application of insecticides targeting the gamma-aminobutyric acid receptor encoded by the Rdl gene.

Relates to the technical field of biology, in particular to a primer group, a probe group, a kit and application thereof. The primer group comprises a first primer pair, and the first primer pair comprises a first upstream primer and a first downstream primer; the second primer pair comprises a second upstream primer and a second downstream primer; wherein the first upstream primer has a nucleic acid sequence as shown in SEQ ID NO: 1 or has at least 80% homology with the SEQ ID NO: 1; the first downstream primer has a nucleic acid sequence as shown in SEQ ID NO: 2 or has at least 80% homology with the SEQ ID NO: 2; the second upstream primer has a nucleic acid sequence as shown in SEQ ID NO: 3 or has at least 80% homology with the SEQ ID NO: 3; the second downstream primer has a nucleic acid sequence as shown in SEQ ID NO: 4 or has at least 80% homology with the SEQ ID NO: 4. Based on the specific primer sequence, accurate and stable detection of the sickle cell anemia gene mutation site can be realized.

The present application relates to the technical field of gene mutation detection, and particularly relates to a system, method and application for detecting exon skipping mutation.The present application constructs a self-catalytic system based on specific double recognition induction of CRISPR-Cas12a, which is used for sensitive and reliable detection of MET 14 exon skipping mutation of lung cancer patients.The system can effectively release the fluorescence signal through the Cas12a auxiliary cutting, and further realize signal amplification through the self-catalytic mechanism.The present application can solve the technical problems of the existing exon skipping mutation detection system, such as complex detection process, long time consumption, and unsatisfactory detection accuracy.The detection system of the present application has high sensitivity, stability and good reproducibility, and the method has low cost, simple operation, short detection period, good specificity, and low false positive rate and false negative rate.The present application is suitable for clinical sample determination and has an ideal application prospect.

The present application relates to the technical field of genetic engineering, in particular to a rice G1 gene mutant g1-1437, its molecular marker and application. The rice G1 gene mutant g1-1437 provided by the present application takes rice G1 gene as reference sequence, the nucleotide sequence of the rice G1 gene is shown as SEQ ID NO. 8; the gene mutant g1-1437 comprises a mutation site that base C at the 112th position is mutated into base T. The mutation causes the chaff homologous transformation of rice into glume shell substances, which can be used as a phenotype screening marker of transgenic rice. The present application further provides a molecular marker identification method of the mutant, which has a good application prospect in the transference of new germplasm.

The invention relates to an AKR1C3 enzyme expression level and medical application through KRAS mutation. According to the AKR1C3 enzyme activated anticancer prodrug, KRAS gene mutation can be directly used as a detection target before medication, namely, a KRAS mutation patient is a patient with high expression of the AKR1C3 enzyme and does not need to be subjected to AKR1C3 enzyme expression level or AKR1C3RNA detection, that is to say, KRAS mutation detection positive can be used as a screening index to screen the patient with high expression of the AKR1C3 enzyme.

The application discloses biomarkers, kits and application thereof for breast cancer detection. Specifically disclosed are application of biomarkers and / or substances for detecting the biomarkers in breast cancer gene detection, wherein the biomarkers include 13 gene mutation sites, namely AKT1, EGFR, ERBB2, ERBB3, ESR1, FBXW7, KRAS, MTOR, PDGFRA, PIK3CA, PTEN, SF3B1 and TP53. The application also discloses a breast cancer gene mutation detection method, which covers 173 mutation sites of 13 genes, reduces the number of detection reactions by designing a primer panel, realizes simultaneous coverage of more gene mutation sites by using fewer primers, and completes library construction through one round of PCR amplification, is short in operation time, and is high in sensitivity and can reach 0.2%.

The application discloses a Cmfsg gene mutant of melon and a creation method and application thereof, and belongs to the technical field of plant genetic engineering. The mutant is obtained by CRISPR / Cas9 gene editing technology to direct mutation of the coding region or the promoter region of the Cmfsg gene of melon, the target point is recognized by a specific sgRNA primer, and is screened by specific primer PCR amplification and sequencing verification. The creation method comprises the following steps: constructing an editing vector of a target gene, introducing the wild-type queen melon by means of an agrobacterium-mediated genetic transformation technology, screening, regeneration and molecular identification to obtain the mutant. The Cmfsg gene has a regulation function on the fruit fur character and the fruit shape index of melon, can realize the direct and rapid creation of the appearance character of melon, overcomes the defects of long breeding period and low efficiency in traditional breeding, and the obtained mutant has stable genetic traits, and can be used as a parent or genetic resource for high-quality breeding of melon.

Provided are a gene mutation detection method and apparatus, a device, a medium, and a product. The method includes acquiring a suspected mutation site of a nucleic acid sample under test, where the suspected mutation site is determined based on first mutation feature data generated by a first mutation detection module upon mutation calling performed on sequencing data of the nucleic acid sample under test, and the recall at which the first mutation detection module identifies gene mutation sites is greater than or equal to a preset recall; acquiring second mutation feature data and third mutation feature data of each suspected mutation site; and inputting the second mutation feature data and the third mutation feature data into a pre-trained target mutation detection model and outputting a mutation detection result of each suspected mutation site.

A computing device according to one aspect comprises: at least one memory for storing at least one instruction; and at least one processor operating according to the at least one instruction. The at least one processor may: predict a probability score indicating the possibility of mutation of a specific gene by analyzing a pathological slide image of a subject by using a machine learning model; and output information related to a targeted therapy for the subject on the basis of the probability score.

This invention relates to a method for constructing a prognostic assessment model for acute myeloid leukemia (AML) with NPM1 mutations. The method includes the following steps: (1) collecting and detecting gene mutation data required for the prognostic assessment system of AML patients with NPM1 mutations, including the mutation status of FLT3-ITD, IDH1, and SRSF2 genes; (2) assigning values ​​according to the mutation status of FLT3-ITD, IDH1, and SRSF2; (3) substituting the values ​​assigned in step (2) into the formula: mNPM1 AML risk score = 1.077 × FLT3-ITD - 0.800 × IDH1 + 1.512 × SRSF2, and performing grouped and parallel prognostic assessments on the calculated values. This invention provides a prognostic assessment model for AML with NPM1 mutations, providing important guidance for the treatment of such patients and having good clinical application value.

The present invention provides a method, apparatus, terminal, and medium for screening gene mutation points based on clinical phenotypes. The method includes: identifying candidate genes based on gene detection results, clinical text to be analyzed, and a multi-source database; calculating the basic weights of a first pathway; extracting candidate mutation sites within the genomic regions of the candidate genes and obtaining external evidence corresponding to the candidate mutation sites; performing phenotypic extraction on the clinical text to be analyzed to obtain a structured phenotype; inputting the structured phenotype, contextual information of the candidate mutation sites, and external evidence into a trained mutation site screening model to obtain intermediate semantic analysis results; determining the basic weights of a second pathway based on the intermediate semantic analysis results; obtaining a comprehensive weight for each candidate mutation site based on the basic weights of the first and second pathways; and screening the candidate mutation sites based on the comprehensive weights to obtain screening results. This application can perform site-level screening, improving the accuracy of gene mutation point screening.

This invention relates to a primer and probe composition and kit for detecting Mycoplasma pneumoniae and its drug resistance gene mutations. The primer and probe composition includes: a primer and probe set for detecting the wild type of Mycoplasma pneumoniae; a primer and probe set for detecting the A2063G mutation in Mycoplasma pneumoniae; a probe for detecting the A2064G mutation in Mycoplasma pneumoniae; a primer and probe set for detecting a human gene internal standard; and a competitive blocking agent. The primer and probe composition of this invention can detect Mycoplasma pneumoniae and its A2063G and A2064G drug resistance mutation sites with high sensitivity and specificity, solving the technical problems of false positives and insufficient specificity in existing quantitative real-time PCR for detecting single-base mutations in Mycoplasma pneumoniae.

Provided are a method and a combination for one-tube simultaneous detection of tumor-specific gene mutation and methylation, and the use thereof. The method comprises searching a database to select mutation and methylation sites of a cancer driver gene and a cancer suppressor gene, synthesizing capture probes correspondingly paired with a target interval, performing hybrid capture on an amplification product of a sample treated with a restriction endonuclease by using a probe set comprising tumor-specific gene mutation and methylation capture probes, constructing a high-throughput sequencing library containing a target region, and performing high-throughput sequencing to obtain the sequence of a target fragment, so as to obtain the results of methylation, point mutations and indel variation of a cancer-associated gene. The provided method enables one-tube simultaneous detection of mutation and methylation states of a cancer-associated gene in one assay, requires a low content of a gene to be detected, can be used for methylation and mutation detection of a tumor-specific DNA, and has low detection costs and high efficiency.

The invention provides a deafness gene mutation cell line, a construction method and a detection quality control product, and belongs to the technical field of gene detection. The invention provides an sgRNA group for constructing a deafness gene mutation cell line, the sgRNA group comprises an sgRNA group designed for mutation sites of deafness genes GJB2, GJB3 and SLC26A4, and 35delG, 176-191del16, 235delC and 299-300delAT which carry the deafness genes GJB2 are obtained through gene editing; 538Cgt in GJB3; t and 547 Ggt; a; in SLC26A4, IVS7-2Agt is added; and extracting genome DNA of the editing cells, and mixing the genome DNA with wild type genome DNA to obtain the deafness gene mutation detection quality control product. The deafness gene mutation detection quality control product provided by the invention can simulate the deafness gene mutation frequency of a real sample, and can more accurately simulate real mutation occurring in vivo.

The invention belongs to the technical field of gene mutation detection, and particularly relates to an isothermal amplification method and a kit for detecting EGFR-L858R and EGFR-T790M point mutation. One purpose of the invention is to provide a kit for detecting EGFR-L858R and EGFR-T790M point mutation. The kit comprises a capture probe sequence as shown in SEQ ID NO.5 and a signal probe sequence as shown in SEQ ID NO.6, wherein the capture probe sequence is used for detecting L858R point mutation; a capture probe sequence as shown in SEQ ID NO.10 and a signal probe sequence as shown in SEQ ID NO.11, which are used for detecting T790M point mutation. According to the technical scheme, PdAgBP is taken as a solid-phase immobilized substrate, EXPAR isothermal amplification and nucleic acid site LNA padlock are taken as a dual signal amplification mechanism, and biosensors based on BPE-ECL are respectively constructed for detection of point mutation EGFR L858R and EGFR T790M.

The invention discloses application of an SNP (Single Nucleotide Polymorphism) marker influencing the colostrum yield of sheep in a PTPRK gene. The marker is located on a PTPRK gene of a sheep chromosome 8, the specific SNP marker site is C / T base mutation at the 488 bp position of SEQ ID NO: 1 in a sequence table, and the colostrum yield of TT and CT genotype sheep individuals at the site is remarkably higher than that of CC genotype individuals. Hu sheep is used as a research object, PCR is used for amplifying a DNA sequence of an eighth exon of a sheep PTPRK gene, the sequence has an SNP variation site, the colostrum yield of a specific genotype Hu sheep individual at the variation site is analyzed, and the Hu sheep individual is selected and reserved for breeding according to the colostrum yield, so that excellent individuals with high colostrum yield are rapidly screened, the breeding process of a high colostrum yield population is accelerated, and the breeding efficiency of the sheep PTPRK gene is improved. A marker resource is provided for marker-assisted selection breeding of the colostrum yield of the sheep.

The invention relates to a primer, a probe composition and a kit for detecting variation sites of KMT2D genes of the Pantoea syndrome, and provides three types of KMT2D gene mutation sites found for the first time so as to enrich the variation spectrum of the KMT2D genes, the three types of variation sites are respectively the variation sites of the KMT2D genes c.3247dup, c.1101611019del and c.15545del, and the variation spectrum of the KMT2D genes is enriched by using the primer, the probe composition and the kit for detecting the variation sites of the KMT2D genes of the Pantoea syndrome, namely the mutation sites of the KMT2D genes of the Pantoea syndrome, of the KMT2D genes of the Pantoea syndrome, of the Pantoea syndrome. Meanwhile, the invention also provides a primer, a probe composition and a kit for detecting the variation site of the KMT2D gene of the Pansheng syndrome. The primer, the probe composition and the kit are used for screening or diagnosing the Pansheng syndrome. The mutation sites are proved to be new pathogenic mutations related to the Pansher syndrome, the KMT2D gene pathogenic variation spectrum is expanded, the kit can comprehensively cover the three new pathogenic variation sites of the KMT2D gene related to the Pansher syndrome, and the three pathogenic variation sites found for the first time can be specifically and accurately detected.

The invention provides a gene mutant and application thereof, and belongs to the technical field of gene detection. Specifically, compared with a wild ATRN gene, the nucleotide sequence of the gene mutant provided by the invention has the following mutations: c.1504Ggt; t; wherein the nucleic acid is DNA (Deoxyribose Nucleic Acid). According to the application, the pathogenic gene ATRN having a causal relationship with schizophrenia is confirmed, and mutation influencing the gene function may cause myelin sheath injury so as to cause schizophrenia.