570 results about "Gene Mutant" patented technology

The invention discloses a genomics cross-modal condition generation method and system based on a potential diffusion model, and belongs to the field of bioinformatics, and the method comprises the following steps: respectively designing and constructing an auto-encoder for gene expression and gene mutation data, and carrying out model training; constructing a potential feature space according to an encoder of gene mutation data and training an unconditionally guided potential diffusion model; constructing a cross-modal feature alignment network according to the two trained encoders and training the cross-modal feature alignment network; and performing joint fine tuning on the unconditionally guided potential diffusion model and the cross-modal feature alignment network. According to the method, the problem of sample modal deletion in multi-modal learning is solved, potential correlation between gene expression data and gene mutation data can be captured through cross-modal feature alignment, information flow between different modals is enhanced, and high-quality prediction data is effectively generated when mutation data is deleted through the potential diffusion model.

The invention discloses an OsFBX421 gene and application of the OsFBX421 gene in the aspect of improving the salt tolerance of rice. The nucleotide sequence of the OsFBX421 gene is as shown in SEQ ID NO: 1 in a sequence table. The invention further discloses a phenotype of an OsFBX421 gene mutant strain under treatment of 120 mM NaCl, and the protein and the coding gene thereof have important theoretical and practical significance on research of a plant salt-tolerant mechanism and improvement of salt tolerance and related traits of plants, can play an important role in plant salt-tolerant molecular breeding and have wide application prospects.

The invention relates to a method for carrying out pathogenic microorganism identification and gene variation state joint detection on a pulmonary alveolar lavage fluid sample based on high-throughput sequencing. The method comprises the following steps: extracting nucleic acid from the pulmonary alveolar lavage fluid sample; constructing a metagenome capture library, and constructing a lung cancer polygene library; carrying out final library pooling; performing high-throughput sequencing; and analyzing data. Compared with the prior art, the scheme provided by the invention is based on a technical path of'macro 'captured by metagenome and'target' of targeted high-throughput sequencing; after the constructed final library is subjected to high-throughput sequencing and data analysis, index output (pathogenic microorganism identification, host chromosome copy number variation, gene mutation, gene fusion, gene copy number variation and methylation state) of multiple biomarkers can be met in one-time detection.

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 invention belongs to the technical field of plant gene engineering, and particularly relates to an OsNUC1 gene and application of a gene mutant constructed by the OsNUC1 gene to regulation and control of rice plant height, leaf length and panicle type. The regulation is to regulate the plant height and leaf growth of the rice and influence the shape of the ear part. Compared with the prior art, the OsNUC1 gene mutant has the following advantages: (1) the OsNUC1 is directionally edited by utilizing a CRISPR / Cas9 gene editing technology, an OsNUC1 gene mutant rice material is obtained, the biological phenotype of the OsNUC1 gene mutant rice material is investigated, the phenotype investigation on T1-generation seedlings of the OsNUC1 shows that the plant heights and the leaf lengths of one-week-old and two-week-old seedlings of the mutant are obviously higher than those of wild seedlings, the leaf widths have no obvious difference, and the OsNUC1 gene mutant rice material has a good application prospect; the result shows that the OsNUC1 can regulate the plant height and the leaf growth of the rice and influence the shape of the ear part. (2) it is proved that the nucleolin gene OsNUC1 is negatively regulated by a transcription factor OsARF7, and the phenotypes such as the plant height, the leaf length, the grain length and the grain width of the OsNUC1 / OsARF7 mutant are more obvious than those of the OsNUC1 mutant. The invention further proves the application of the OsNUC1 gene in regulation and control of rice plant height and leaf growth.

The invention discloses a quinoa CqARF2 gene mutant as well as an identification method and application thereof. Chenopodium quinoa seeds are mutated on a large scale by utilizing a chemical mutagenic agent EMS, a CqARF2 gene function deletion mutant arf2 is adopted as a quinoa mutant, G at the 1050th site of the CqARF2 gene of the mutant is mutated into A, and amino acid at the 350th site is mutated into a termination codon, so that the translation process of CqARF2 protein is terminated in advance. The chenopodium quinoa CqARF2 gene function deletion mutant arf2 shows remarkable agronomic character improvement, seeds are large and full, compared with a wild type, the hundred-grain weight of the mutant seeds is increased by about 40%, the seed diameter is increased by about 10%, the seed thickness is increased by about 30%, and a certain foundation is laid for breeding new high-yield and high-quality chenopodium quinoa varieties.

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 discloses ZmPHYB1 and ZmPHYB2 gene mutants and application of the ZmPHYB1 and ZmPHYB2 gene mutants in corn seeds, and belongs to the field of plant biotechnology breeding. According to the corn ZmPHYB1 and / or ZmPHYB2 gene provided by the invention, after a plant generates function loss mutation of an endogenous gene or the expression of the ZmPHYB1 and / or ZmPHYB2 gene is inhibited, phenotypes with smaller grains, reduced grain weight, shortened corn grain filling time, reduced grain water content and / or improved dehydration rate can be obtained; the gene resource and the application method thereof have a wide application prospect in the field of corn breeding.

The invention relates to the technical field of grass carp (Ctenopharyngodon idella), in particular to a method for knocking out a grass carp SMYD3 gene and application of the grass carp SMYD3 gene. The nucleotide sequence of the gRNA is as shown in SEQ ID NO: 1. The method comprises the following steps: synthesizing gRNA of a target gene through in-vitro transcription, then mixing the gRNA with Cas9 protein, introducing the mixture into an animal pole in a grass carp fertilized egg single-cell period by adopting a microinjection mode, and hatching to obtain the grass carp F0 generation with the target gene mutation. According to the application, the knockout of the grass carp gene is efficiently realized, and an effective technical means is provided for developing grass carp breeding and gene function research.

The invention belongs to the technical field of biological detection, and particularly relates to a biomarker combination and application thereof in IDH-1 gene mutation detection. The biomarker combination comprises one or more of the following lipid metabolites: a third component of high-density lipoprotein-triglyceride, a fourth component of high-density lipoprotein-triglyceride, high-density lipoprotein-triglyceride, lactic acid and sphingomyelin. Whether a glioblastoma patient carries IDH-1 gene mutation or not is judged through a plurality of biomarkers, the method has the advantages of being good in sensitivity and specificity, small in patient trauma, capable of overcoming individual differences and suitable for large-scale screening, and a new solution is provided for clinical patient diagnosis.

The invention belongs to the technical field of biomedicine, and particularly relates to tumor neoantigen polypeptide based on EGFR gene mutation and application of the tumor neoantigen polypeptide. According to the effective method for predicting and screening the tumor neoantigen by using the tumor neoantigen prediction platform, the specific mutation of tumor tissues is obtained, and the neoantigen polypeptide with high immunogenicity, high affinity and high activation effect is more accurately predicted; the screened new antigen polypeptide makes up the blank of individualized antigen peptide in treatment of lung cancer NSCLC patients with EGFR-L858R somatic mutation, can be synthesized in a large scale, is used for subsequent standardized and individualized immunotherapy of EGFR-L858R mutation tumor patients, and has a good clinical application prospect.

The invention discloses an application of a rice ALKBH8b gene or an encoded protein thereof in regulation and control of plant growth, yield or plant type. The ALKBH8b gene in rice is mutated to obtain the ALKBH8b gene mutant, and compared with wild rice, the mutant rice shows that the plant height and the leaf width are increased; the blade included angle is reduced; phenotypes such as rice spike length, effective tiller number, hundred-grain weight increase and the like prove that the ALKBH8b gene or the protein thereof has the functions of regulating and controlling plant growth, yield or plant type and the like. According to the invention, the ALKBH8b gene is further expressed to obtain an ALKBH8b protein, and an enzyme activity experiment proves that the ALKBH8b protein is an m6A demethylase. The invention has application prospects in the aspects of regulating plant growth or plant type, improving plant yield and the like.

The invention provides application of an OsRTD1 gene in improving drought resistance of rice, and belongs to the technical field of gene engineering and rice drought resistance. The nucleotide sequence of the OsRTD1 gene is as shown in SEQ ID NO: 1, and the amino acid sequence of the protein coded by the OsRTD1 gene is as shown in SEQ ID NO: 2. Compared with a wild plant, the survival rate of the OsRTD1 gene mutant plant osrtd1 under the drought stress of PEG induction and soil dehydration is remarkably improved, the survival rate of the OsRTD1 gene overexpression plant OsRTD1-OE under the drought stress is remarkably reduced, the relative water loss rate of dehydrated leaves is higher, and the survival rate of the OsRTD1 gene overexpression plant OsRTD1-OE under the drought stress is remarkably reduced. The total grain number, the solid grain number, the total grain weight and the like of the OsRTD1 gene mutant plant osrtd1 under the stress of field drought are obviously higher than those of a wild plant. The OsRTD1 gene is a potential candidate new target for regulating and controlling a rice drought resistance mechanism.

The invention discloses an application of an ALKBH2 gene or an encoded protein thereof in regulation and control of plant growth or yield. The ALKBH2 gene in rice is mutated to obtain the ALKBH2 gene mutant, compared with wild rice, the ALKBH2 gene mutant shows phenotypes such as plant height increase, leaf width increase, tiller number, effective tiller number and hundred-grain weight increase, and the ALKBH2 gene mutant proves that the ALKBH2 gene or the encoded protein thereof has the functions of regulating plant growth or yield and the like. According to the invention, the ALKBH2 gene is further expressed to obtain the ALKBH2 protein, and an enzyme activity experiment proves that the ALKBH2 protein is an m6A demethylase. The invention has application prospects in the aspects of regulating and controlling plant growth, increasing plant yield and the like.

A series of independent human-induced non-transgenic mutations found at one or more of the SBEII genes of wheat; wheat plants having these mutations in one or more of their SBEII genes; and a method of creating and finding similar and / or additional mutations of SBEII by screening pooled and / or individual wheat plants. The seeds and flour from the wheat plants of the present invention exhibit an increase in amylose and resistant starch without having the inclusion of foreign nucleic acids in their genomes. Additionally, the wheat plants of the present invention exhibit altered SBEII activity without having the inclusion of foreign nucleic acids in their genomes.

The invention relates to a primer composition, kit and method for detecting benign and malignant thyroid nodule related gene mutation, and the primer composition comprises a primer pair for detecting benign and malignant thyroid nodule related gene DNA mutation and RNA fusion variation. The primer pair can be independently amplified, and can be used for performing efficient, high-sensitivity and high-specificity multiple amplification on DNA and cDNA templates to be detected under the same PCR reaction system and reaction program, and then the gene mutation condition of a related region can be obtained by constructing a library and sequencing, so as to assist clinical diagnosis of benign and malignant thyroid nodules. Moreover, specific nucleotide sequences are respectively connected to the 5'end of the upstream primer and the 3 'end of the corresponding downstream primer in a proper proportion in the primer composition, so that the homogeneity and specificity of multiple PCR amplification can be further improved, and the detected nucleic acid input amount and the lowest detection limit of mutation frequency (as low as 0.5%) are effectively reduced.

The invention discloses a gene ZmER1 coded by a corn receptor kinase. The CDS (Coding Sequence) of the gene is shown as SEQ ID No.1. The invention also discloses a preparation method of the gene ZmER1. The CDS nucleotide sequence of the gene mutant Zmer1-I1 is as shown in SEQ ID No.3, the amino acid sequence of the gene is as shown in SEQ ID No.4, the CDS nucleotide sequence of the mutant Zmer1-D8 is as shown in SEQ ID No.5, and the amino acid sequence of the gene is as shown in SEQ ID No.6. The invention further discloses a preparation method of the gene. The invention also discloses phenotypes in the aspects of reducing the height of stem tip meristem and increasing the size of female ear inflorescence meristem after mutation of the receptor kinase coded gene ZmER1, which indicate that the ZmER1 gene has a good application prospect in the aspects of cultivating a new semi-dwarf variety resistant to close planting and increasing the row number of corn ears.

Provided herein is a recombinant AAV (rAAV) comprising an AAV capsid and a vector genome packaged therein, wherein the vector genome comprises an AAV 5' inverted terminal repeat (ITR), an expression cassette comprising engineered nucleic acid sequence encoding human Tafazzin and operably linked thereto regulatory sequences, and an AAV 3' ITR. Also provided is a pharmaceutical composition comprising a rAAV as described herein in a formulation buffer, and a method of treatment of Barth Syndrome or a disease associated with a mutation in a Tafazzin (TAZ) gene.

Analyze gene mutations including missense mutations and / or nonsense mutations and silent mutations with high precision. 【Solution means】Detect signals from a first probe corresponding to a missense mutation or nonsense mutation in a gene mutation, a second probe corresponding to a silent mutation in the gene mutation, and a wild-type probe corresponding to the wild type, and determine the signal from the second probe as the wild type in the gene mutation.

To provide a method, a composition, and a kit for predicting the onset of moyamoya disease in a subject carrying a genetic mutation responsible for moyamoya disease.SOLUTION: Disclosed herein is a method for predicting the onset of moyamoya disease, the method including measuring the expression level of GATA2 in a sample derived from a subject carrying the p.R4810K mutation in the RNF213 gene. Also disclosed is a composition or a kit for predicting the onset of moyamoya disease in a subject carrying the p.R4810K mutation in the RNF213 gene, the composition or kit including a reagent for measuring the expression level of GATA2.SELECTED DRAWING: None

The invention discloses a circulating tumor DNA (deoxyribonucleic acid) standard substance as well as a preparation method and a valuing method thereof. The preparation method comprises the following steps: (1) culturing cells; (2) cell nucleus extraction; (3) carrying out enzyme digestion on cell nucleuses; (4) purifying the fragmented DNA; (5) sampling a sample, and quantifying the sample by nanodrop measurement; (6) sampling the length of a verification fragment; and (7) mixing different ctDNAs according to the finally obtained theoretical mutation abundance of 1%, 5% and 10% to prepare the standard substance. The valuing method comprises the following steps: carrying out digital PCR amplification on a sample through a double-labeled probe to obtain the copy number concentration of a mutant gene and a wild gene or the copy number concentration of a target gene and a reference gene, and calculating the gene mutation frequency and the amplification multiple. According to the method disclosed by the invention, the fragmented DNA with the length similar to that of the ctDNA is obtained; 330bp and large fragments can be removed through two rounds of purification of a paramagnetic particle method, and a single-fragment standard substance is obtained.

The invention discloses a tomato disease-resistant gene mutant and application thereof in prevention and treatment of ToBRFV, and belongs to the technical field of biological prevention and treatment of viral diseases. According to the invention, the 1927th nucleotide of the coding region sequence of the tomato Tm-22 gene is mutated from G to A; or the 643th amino acid of the LRR structural domain of the tomato Tm-22 gene encoding protein is mutated from glycine to arginine, so that the accumulation level of ToBRFV capsid protein (CP) can be obviously reduced. The gene (named as Tm-22-Mut5) not only can be used as a new ToBRFV resistance gene, but also retains the resistance to TMV, ToMV and ToMMV. The method comprises the following steps: carrying out combined mutation on Tm-22-Mut5 and a Tm-22-Mut3-1 mutant (tyrosine at the 767th site in an LRR structural domain is mutated into phenylalanine) screened in an earlier stage, so as to obtain a mutant Tm-22-Mut6. According to the present invention, the analysis results show that the accumulation level of the ToBRFV capsid protein can be significantly reduced by using the Tm-22-Mut6; compared with a mutant pFGCTm-22-Mut3-1 obtained through early research and screening and a newly obtained mutant Tm-22-Mut5, the resistance of the Tm-22-Mut6 to the ToBRFV is further improved, and the resistance of the Tm-22-Mut6 to the ToBRFV is further improved.

The invention relates to the technical field of gene engineering, in particular to a method for constructing a pou3f3 mutant model, the pou3f3 mutant model and application. The method comprises the following steps: designing an sgRNA target nucleotide sequence of a targeted pou3f3 gene, shearing the pou3f3 gene in an animal model through a CRISPR / Cas9 gene editing technology so as to realize pou3f3 gene mutation, and finally carrying out passage screening to obtain a double homozygous mutant of pou3f3a mutation and pou3f3b mutation, a pou3f3a homozygous mutant or a pou3f3b homozygous mutant model. According to the method, synchronous knockout of the two homologous genes pou3f3a and pou3f3b can be effectively realized, a reliable experimental model is provided for researching gene functions and related diseases, and the model can also be used for researching hereditary kidney diseases.

The invention provides a gene Aokap10 for improving the kojic acid yield of aspergillus oryzae, a method and application. The invention finds that in the Aspergillus oryzae Aokap10 gene, nucleotide sequences from the 198 site to the 217 site are taken as target sequences, the site-specific knockout of the Aokap10 gene can be efficiently realized, and when insertion or deletion occurs at the 198 site to the 217 site of the sequence as shown in SEQ ID NO.2, the encoding protein of the Aokap10 gene can be damaged, so that the kojic acid yield of the Aspergillus oryzae is increased, and the application prospect is broad. The construction efficiency of the engineering strain for high yield of kojic acid based on Aokap10 gene mutation is effectively improved.

The invention discloses application of a gene MtPrx38 in regulation and control of growth, development and quality of forage grass. The method comprises the following steps: carrying out genome PCR (Polymerase Chain Reaction) identification to obtain homozygotes MtPrx38-1 and MtPrx38-2 of the medicago truncatula MtPrx38 gene mutant; the expression quantity of the MtPrx38 gene detected by RT-PCR (Reverse Transcription-Polymerase Chain Reaction) is obviously reduced, and compared with wild medicago truncatula, the peroxidase activity of the mutant homozygotes MtPrx38-1 and MtPrx38-2 is obviously reduced. Compared with wild medicago truncatula, the MtPrx38 gene mutant has the advantages that the root length, the lateral root number, the plant height, the branch number, the leaf area and the secondary branch number are obviously increased; the flowering time is advanced; the lignin content and the cellulose content are obviously reduced, which indicates that the gene MtPrx38 has the functions of regulating and controlling the growth, development and quality of forage grass. The method has application prospects in the aspects of promoting growth and development of forage grass, improving forage grass quality and the like.

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 provides an EGFR (epidermal growth factor receptor) gene mutation detection system and an EGFR gene mutation detection method based on CRISPR / Cas12a. The detection system comprises an RPA system and a report system; the RPA system comprises restriction endonuclease or a coding gene of the restriction endonuclease aiming at an EGFR mutation site wild type sequence, an RPA primer or a coding gene of the RPA primer aiming at an EGFR mutation site, and an RPA reagent, the report system comprises crRNA (Complementary Ribonucleic Acid) aiming at EGFR (Epidermal Growth Factor Receptor) mutation sites, Cas protein or coding genes thereof and single-chain report DNA ( Wherein the single-chain report DNA is marked with fluorescent report molecules or CRISPR (clustered regularly interspaced short palindromic repeats) lateral chromatography test strip report molecules. The detection method can be used for detecting fresh tissue and paraffin-embedded tissue samples, the whole process is controlled within 2 hours, only a small incubation instrument is needed, and rapid and convenient gene mutation low-detection-limit detection on the samples is achieved.

The invention belongs to the technical field of gene detection, and particularly relates to application of a CFTR gene mutation combination, an amplification reagent and a product in preparation of a CF risk assessment product. The CFTR gene mutation combination consists of an intron region mutation combination and an exon region mutation combination, based on the CFTR gene mutation combination, the invention further develops an amplification reagent and a CFTR gene mutation detection product, the amplification reagent and the CFTR gene mutation detection product comprise a primer combination for multiplex PCR amplification of the CFTR gene mutation combination, and the primer combination has the characteristics of high accuracy, high specificity and high sensitivity, can accurately detect related gene mutation, and provides a reliable basis for risk assessment and diagnosis of CF. When the amplification reagent and the CFTR gene mutation detection product are combined with sweat chlorine detection for use, the diagnosis rate of CF can be remarkably improved, and the amplification reagent has important application value in clinical diagnosis of CF and is expected to provide more powerful support for early diagnosis and treatment of CF patients.

The invention is applicable to the technical field of molecular biology, and provides a polypeptide specifically bound with a transferrin receptor, the polypeptide comprises a general formula of H1-H2-E1-E2-H3-H4-E3, and H1, H2, H3 and H4 independently comprise an alpha helical domain; the E1, the E2 and the E3 respectively and independently comprise a beta folding structural domain; when the polypeptide is combined with the hTfR1, transferrin is allowed to be combined to the hTfR1; the polypeptides are capable of binding and delivering oligonucleotides. The invention also provides a recombinant nucleic acid encoding the polypeptide, an expression vector comprising the recombinant nucleic acid, a recombinant host cell comprising the polypeptide, the nucleic acid and / or the expression vector, a conjugate of the polypeptide and oligonucleotide, and a corresponding pharmaceutical composition. The polypeptide disclosed by the invention can be highly specifically combined with hTfR1, so that accurate delivery of oligonucleotide is realized, and a practical basis is provided for treating diseases related to gene mutation.

The invention discloses a construction method and application of a Prpf6 gene mutation induced single dose insufficient RP mouse model, and belongs to the technical field of molecular biology and biomedicine. The mouse model constructed by using the method provides a convenient, reliable and economic means for researching the relationship between PRPF6 gene mutation and retinitis pigmentosa diseases and the pathogenesis of the PRPF6 gene mutation, and provides an effective research model capable of stably inheriting in the research on the aspects of RP pathogenesis, treatment methods, drug screening and the like. The animal model is subjected to transcriptome and a series of phenotype detection, wherein a transcriptome result shows that Prpf6 gene knockout mouse retina has occurred a certain degree of metabolic abnormality, electrophysiological detection, fundus examination and Hamp; e staining results show that the shapes and functions of the retinal cell layer and the retina of the mouse are damaged, and the disease phenotype of RP is met.