1015 results about "Genes mutation" patented technology

Described herein are methods to diagnose or prognose cancer in a subject by enriching, detecting, and analyzing individual rare cells, e.g., epithelial cells, in a sample from the subject. Also described are methods for labeling regions of genomic DNA in individual cells in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the method includes detecting the presence of gene mutations in individual rare cells in a subsample.

The subject invention provides materials and methods wherein unique and advantageous combinations of gene mutations are used to direct carbon flow from sugars to a single product. The techniques of the subject invention can be used to obtain products from native pathways as well as from recombinant pathways. In preferred embodiments, the subject invention provides new materials and methods for the efficient production of acetate and pyruvic acid.

The present invention provides methods for determining the level of protein activity in a cell by: (i) measuring abundances of cellular constituents in a cell in which the activity of a specific protein is to be determined so that a diagnostic profile is thus obtained; (ii) measuring abundances of cellular constituents that occur in a cell in response to perturbations in the activity of said protein to obtain response profiles and interpolating said response profiles to generate response curves; and (iii) determining a protein activity level at which the response profile extracted from the response curves best fits the measured diagnostic profile, according to some objective measure. In alternative embodiments, the present invention also provides methods for identifying individuals having genetic mutations or polymorphisms that disrupt protein activity, and methods for identifying drug activity in vivo by determining the activity levels of proteins which interact with said drugs.

The invention discloses a method for carrying out in-situ repairing on blood coagulation factor F8/F9. The method comprises the following steps: in a target genome sequence, selecting the mutation sites of blood coagulation factor as the gene sites for in-situ repairing; designing the binding sites of nuclease of sgRNA sequence of a CRISPR/Cas system; designing a homologous recombinant repairing donor sequence for in-situ repairing; delivering nuclease protein and/or sgRNA and the nucleotide sequence of the homologous recombinant repairing donor to the gene sites of in-situ repairing by a delivering carrier; generating damages to the genome DNA by the nuclease on the gene in-situ repairing sites; and inserting the homologous recombinant repairing donor sequence into the gene in-situ repairing sites so as to repair the gene or supplement the expression of gene. The in-situ repairing of mutation sites of blood coagulation factor can be applied to the clinic, and the method has the advantages of precise induction, safer and controllable process, and definite target.

Free-living microbes are provided in which the nucleic acid has been modified so that the microbe is attenuated for proliferation and/or which comprise genetic mutations that attenuate the ability of the microbe to repair its nucleic acid. Methods of using the modified microbes for the loading, activation, and/or maturation of antigen-presenting cells are also provided. Vaccine compositions comprising the modified microbes and/or the antigen-presenting cells and methods of using the vaccines are also provided. The microbes may be further modified to include heterologous antigens, such as tumor antigens or infectious disease antigens, for use as a vaccine against cancer or infectious diseases.

This invention is to provide a process for producing a glycoprotein comprising a mammalian type sugar chain, characterized in that the process comprises introducing an α-1,2-mannosidase gene into a methylotrophic yeast having a mutation of a sugar chain biosynthesizing enzyme gene, so that the α-1,2-mannosidase gene is expressed under the control of a potent promoter in the yeast; culturing in a medium the methylotrophic yeast cells with a heterologous gene transferred thereinto; and obtaining the glycoprotein comprising a mammalian type sugar chain from the culture. Using the newly created methylotrophic yeast having a sugar chain mutation, a neutral sugar chain identical with a high mannose type sugar chain produced by mammalian cells such as human cells, or a glycoprotein comprising such a neutral sugar chain, can be produced in a large amount at a high purity. By introducing a mammalian type sugar chain biosynthesizing gene into the above-described mutant, a mammalian type sugar chain, such as a hybrid or complex, or a protein comprising a mammalian type sugar chain can be efficiently produced.

The invention provides a kit for early stage colorectal cancer auxiliary diagnosis and a use method and a detection system thereof. The kit comprises a nucleic acid isolation and purification reagent, a DNA (deoxyribonucleic acid) sulfite conversion reagent, a KRAS (kirsten rat sarcoma viral oncogene homolog) gene mutation detection reagent, a BMP3 (bone morphogenetic protein 3) and NDRG4 (N-myc downsteam regulated gene 4) gene methylation detection reagent and a fecal occult blood detection reagent, wherein the nucleic acid isolation and purification reagent is used for separating and purifying the human DNA in a faeces sample; the DNA sulfite conversion reagent is used for performing sulfite conversion on the purified partial human DNA, and is used for subsequent BMP3 and NDRG4 gene methylation detection. Through detecting two kinds of indexes of DNA and fecal occult blood in the faeces sample in a combined way, the kit provided by the invention is used for the early stage screening of the colorectal cancer. Compared with an FOBT (fecal occult blood test) detection method, the kit provided by the method can realize higher sensitivity on the detection of colorectal cancer, particularly the developing period tumor.

The invention provides a self-adaptive genetic particle swarm hybrid algorithm optimization method. The self-adaptive genetic particle swarm hybrid algorithm optimization method includes: calculatingthe density and the radius of a center region of a parent population in a genetic algorithm, and distinguishing whether the parent population is in the overall centralized distribution, the local centralized distribution or the uniform distribution; performing a selection operation of the genetic algorithm, and selecting a parent individual to be evolved; establishing computational formulas of thecrossover probability and the mutation probability according to the three distributions of the parent population; performing crossover and mutation operations according to the established crossover and mutation probability formulas so as to achieve chromosome recombination and gene mutation, and forming an offspring individual; selecting a part of individuals with high fitness from a part of offspring individuals to perform the particle swarm algorithm to form offspring particles, and combining the offspring individuals and the offspring particles into an offspring population and saving the optimal individual thereof. The invention adaptively adjusts crossover probability mutation probability parameter values in the genetic particle swarm hybrid algorithm, so that the convergence speed and the convergence precision are greatly improved.

The present invention relates to methods for determining the genetic causes of certain phenotypes. The present invention further relates to methods for predicting the phenotype of a organism from its genotype. In particular, the methods of the invention relate to the use of compendia of biological response profiles of cells having known genetic mutations for comparisons with the biological response profiles of cells having unknown phenotypes and genotypes. The methods of the present invention are particularly useful for monitoring the success of genetic engineering and cross-breeding of crops and livestock. The present invention further relates to a computer system for comparing biological response profiles to a compendium of biological response profiles and to kits for relating the phenotype of a cell type to its genotype or for predicting the phenotype of a cell type.

The invention provides application of specific gene mutation in molecular diagnosis and targeted therapy of pituitary adenoma detection. Specifically, the invention provides a type of specific gene mutations in patients suffering from pituitary adenoma. The experimental result proves that the patients suffering from pituitary adenoma can be diagnosed by detecting the gene mutations.

The present invention discloses a T cell receptor, which specifically binds to a KRAS gene codon 12 mutation G12D 26aa peptide, wherein the amino acid sequence of the peptide is represented by SEQ IDNO:1 MTEYKLVVVGADGVGKSALTIQLIQN, the 9-12aa epitope polypeptide with high affinity is represented by SEQ ID NO:48 VVVGADGVGK and SEQ ID NO:49 KLVVVGADGVGK when the T cell receptor can identify the HLAmolecule antigen complex, and the HLA molecule is HLA-A0301. The invention discloses the amino acid sequences of the alpha chain and the beta chain of the T cell receptor in the identification of theantigen complex formed by the KRAS gene G12D mutation peptide and the HLA-A0301, nucleotide sequences encoding the alpha chain and the beta chain of the T cell receptor, a vector containing the nucleotide sequences, cells containing the nucleotide sequences, and applications of the vector or the cells in preparation of drugs for prevention and treatment of diseases related to KRAS gene mutation.

Free-living microbes are provided in which the nucleic acid has been modified so that the microbe is attenuated for proliferation and/or which comprise genetic mutations that attenuate the ability of the microbe to repair its nucleic acid. Methods of using the modified microbes for the loading, activation, and/or maturation of antigen-presenting cells are also provided. Vaccine compositions comprising the modified microbes and/or the antigen-presenting cells and methods of using the vaccines are also provided. The microbes may be further modified to include heterologous antigens, such as tumor antigens or infectious disease antigens, for use as a vaccine against cancer or infectious diseases.

The invention relates to a gene mutation type recombined protease K and an industrialized production method thereof. Specifically, the invention relates to the gene mutation type recombined protease K which is obtained by performing gene reformation and protein engineering and has an enzymatic activity being more than two times of the enzymatic activity of the same natural protein, and further relates to the industrialized production method and a technical process for utilizing yeast cells to large-scale culture expressing foreign proteins and prepare the gene mutation type recombined protease K.

The invention relates to an ARMS fluorescent quantitative PCR-based gene mutation kit and a method thereof. Compared with present gene polymorphism detection kits and methods thereof, the enhanced ARMS fluorescent quantitative PCR-based gene polymorphism mutation kit and the method thereof have the advantages of strong specificity, high sensitivity, low cost, highly reliable result, low background, easy determination of the result, ascendant operation and use, fast and convenient fluorescent quantitative PCR, closed tube detection in the whole course, pollution reduction, and reduction of the unnecessary cost and workload. The fluorescent quantitative PCR can realize the characterization of the amplification efficiency by using a CT value, so the method can realize the detection of the nuclear gene polymorphism heterozygote genotype conditions, and makes the result accurately and reliably determined.

The invention relates to a method for identifying gene mutation types in the field of gene analysis as well as a special chip and a kit thereof. The gene mutation detecting method comprises the following steps: taking a genome to be detected from a human tissue as a template, carrying out multiple allele special PCR amplification by a primer group that is designed aiming at special mutant sites and DNA polymerase without 3'-5' end exonclease activity, then hybridizing the obtained PCR product and an oligonucleotide probe (allele special probe) on the gene chip, and confirming mutation types of all gene sites according to the hybridizing result. The allele special probe is designed aiming at special gene types of gene mutant sites to be detected. The invention can detect gene mutations in comprehensive, systemic and high-flux ways and has light environmental pollution as well as simple and rapid operation compared with PCR-RFLP and a sequencing method.

The invention discloses a spiro-substituted pyrimido-cyclic compound with selective inhibition effect on KRAS gene mutation and a pharmaceutically acceptable salt, a stereoisomer, a solvent compound or a prodrug thereof; the spiro-substituted pyrimido-cyclic compound is represented by a formula (I), and the definition of each group or symbol in the formula is shown in the specification in detail.In addition, the invention also discloses a pharmaceutical composition containing the compound and an application of the compound in preparation of cancer drugs.

The invention discloses a new system for screening and diagnosing phenylketonuria.41 common phenylalanine hydroxylase gene mutation sites and 4 most common 6-pyruvoyl tetrahydrobiopterin synthetase (PTPS) gene (PTS) mutation sites are screened to form the gene mutation detection system of phenylketonuria.The system is low in cost and high in throughput.Compared with the prior art, the system has the advantages that most mutation sites can be detected in one system, and 45 mutation sites can be detected; the comprehensive cost is the lowest, and the total cost of the system is lower than built methods using the DNA chip technology, the 'molecular switch' technology, the high-resolution melting curve method and the SNaPShot technology to detect PAH gene mutation; most mutation sites can be detected, the number of the detected mutation sites is twice as the number of the detected PAH gene mutation sites of the high-resolution melting curve method built by Xiamen University, the number of the detected mutation sites is 4 times as the number of the detected mutation sites of the DNA chip technology and the SNaPShot technology, and the number of the detected mutation sites is 6 times as the number of the detected mutation sites of the 'molecular switch' technology.

The invention discloses a gene mutation detection method and apparatus. The method comprises the following steps: 1, acquiring sequencing data of a sample to be detected and a contrast sample; and 2, judging that whether SNP mutation, InDel mutation and/or deletion mutation exists in the sequencing data of the sample to be detected: (1) carrying out homogenization processing, calculating a standard deviation and median, and calculating the irrelevance Z value according to a formula (1); and (2) judging deletion: judging the deletion mutation exists in the window of the sample to be detected if the Z value Z = (the homogenous sequence number of the sample to be detected - the median)/the standard deviation (1) is greater than 3. The method and the apparatus improve the detection flux and the detection accuracy.

The invention discloses a combined primer for screening human deafness gene mutation. The combined primer comprises a combined forward primer and a combined reverse primer, wherein the combined forward primer consists of two parts namely a joint part P1 sequence and a forward primer sequence, and the combined reverse primer sequentially consists of a joint part P2 sequence, a label sequence and a reverse primer sequence. The invention also discloses a kit for screening the human deafness gene mutation. The invention also discloses applications of the combined primer and the kit in preparation of a reagent for screening the human deafness multi-gene mutation. A primer containing the label (Barcode) sequence is used for differentiating different samples, and at least 32 samples can be detected by performing a method provided by the invention once, so that combined primer can be widely applied to general investigation of deafness susceptible genes. The price of the combined primer disclosed by the invention is far lower than that of imported instruments or reagents, so that the sequencing cost is greatly reduced and then the detection cost is also greatly reduced.