47 results about "Gene Mutation Type" patented technology

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 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 discloses a method for identifying HBV gene mutation type and a chip and a reagent box which are especially used with the method. The method for identifying the HBV gene mutation type takes the detected the genome of the hepatitis B virus as the template and uses the following primer group and a DNA polymerase which has no exonuclease activity from the 3'end to 5' end for implementing multiple PCR magnification; the primer group comprises a universal primer and a or more than one special primers; the special primer 5' end is a bar code sequence and the length of the bar code sequence is 5 to 25 nt; the bar code sequence has a comparatively low homology with the hepatitis B virus; the special primer totally matches with the corresponding segment of the hepatitis B virus comprising wild base group or mutant base group at a mutation point; the gene chip comprises a plurality of probes and the probes are corresponding to the bar code sequence one to one and every probe only contains one bar code sequence.

The invention relates to a method for distinguishing gene mutation types an individual tumor sample based on second-generation sequencing. A tumor tissue sample and a normal tissue sample are used forlibrary construction and NGS sequencing respectively, strand bias and different types of base frequencies of mutation sites stored in an intermediate file BAM for biological information analysis of the tumor tissue sample are analyzed, the quality of base comparison and the frequency of noise are used as the training characteristics of machine learning, meanwhile, type information of corresponding mutation sites of the normal tissue sample is paired to serve as a prediction mutation type, a classification prediction model is constructed to distinguish somatic mutation from germline mutation,the model is used to distinguish somatic mutation from germline mutation, the detection efficiency is high, the specificity is high, and after the model is established, the individual tumor sample canbe used for NGS sequencing and mutation detection, the detection cost of a normal or cancer sample can be well saved, and meanwhile, the problem that normal tissues of tumor patients with specific types are difficult to obtain can be solved.

The invention discloses an HRM method and kit for clinically detecting deafness-related gene mutation. The HRM method comprises the steps that PCR amplification and HRM scan analysis are conducted by extracting DNA of a sample to be detected and applying primers shown in SEQ ID NO.1-30; the deafness-related gene mutation type is judged according to a scan analysis result, a sample free of mutation peaks in HRM scan typing is negative, and a sample with the mutation peaks in HRM scan typing is positive. The kit comprises the primers, quality control products, a PCR reagent, fluorescent dyes and the like; the kit has the advantages that all the primers in the kit can conduct a PCR reaction at the same temperature, the detection sensitivity and the specificity are high, a small reaction system is achieved, the detection sample source is rich, reacting is easy, convenient and rapid, the reagent cost is low, and high throughput is achieved. The HRM method and kit are suitable for clinical neonatal hereditary deafness gene screening and pre-pregnancy deafness gene screening for good prenatal and postnatal care and beneficial for guiding good prenatal and postnatal care and clinical personalized medication.

The invention relates to kit for detecting NPM (Nucleophosmin)1 gene mutation types. The kit comprises an RT-PCR (Reverse Transcription-Polymerase Chain Reaction) solution, a primer and probe mixed solution, an RT-PCR reaction enzyme system, DEPC (Diethylpyrocarbonate) H20 and a packaging box which is used for separating and intensively packaging reagent bottles or tubes. Since the kit applies a one-step real-time fluorescence PCR (Polymerase Chain Reaction) mode and carries out LNA (Locked Nucleic Acid) modification on a specific probe, mutation of exons 12 of an NPM1 gene in a bone marrow and peripheral blood sample of an acute myeloid leukemia patient can be hypersensitively and rapidly detected, and the minimum detectable quantity is 0.2ng; meanwhile, A type mutation, B type mutation and D type mutation can be classified according to different channel signal values; meanwhile, the sample extracting effect can be detected by adding an internal standard control system, and the kit can be widely applied to estimation of an acute myeloid leukemia chemotherapeutic effect.

The invention relates to mutation site controllable hairless model pig reconstructed oocyte and a reconstruction method thereof and a model pig construction method. According to the hairless model pig reconstructed oocyte and reconstruction method thereof and the model pig construction method, by utilizing CRISPR/Cas9 and point mutation technology, cells can be accurately repaired by utilizing provided ssODNs as a template in a homologous recombination manner after Cas9 is cut at the gene specific site, and a termination codon is introduced at the gene specific site through the CRISPR/Cas9 and ssODNs design, so that gene translation is early terminated, and further the loss of gene function can be caused. Human disease gene mutation type can be accurately replicated by utilizing the method, so that the phenotype difference caused due to different gene mutation forms can be avoided. A hairless model pig constructed by utilizing the method has no other abnormities except for hair loss, hoof development defect and filiform papillae development defect, and can be used for various dermatological researches and external skin drugs and cosmetics. The skin transformed immunologically can be used for clinical skin transplantation.

The invention relates to a nucleic acid composition and a detection kit for detecting genetic anemia as well as a use method. The nucleic acid composition and the detection kit for detecting the genetic anemia can be used for simultaneously detecting four deletion type alpha thalassemia genes, three non-deletion type alpha thalassemia genes, nineteenth mutation type beta thalassemia genes, geneticanemia types such as sickle-shaped thalassemia gene as well as specific gene mutation types. Compared with the prior similar technologies, the detection kit for the genetic anemia has the characteristics that several mutation detection types for the genetic anemia are increased, such as alphaTHAI deleted thalassemia, sickle-shaped thalassemia and 71/72(+T) mutation and -28M(A-C) mutation which are relatively-rare thalassemia types. The detection for the genetic anemia types can provide visual reference and prompt for clinically detecting the genetic anemia, so that the leak detection risk ofclinical genetic anemia can be greatly reduced and the birth rate of severe anemia children is reduced.

The invention supplies Wilson's disease patient ATP7B gene mutation and distribution feature. It builds up the method to testing Wilson gene mutation point by DHPLC technology. The method includes the following steps: distilling DNA sample; taking primer designing, taking PCR amplification; taking testing and analysis to PCR amplification product; directly taking sequence test to determining mutation or polymorphism location points; mixing the sample of negative testing result of DHPLC with wild sample of equal ratio, and taking DHPLC test to identify mutation or wide type.

The invention discloses a cancer driver gene prediction method. The method comprises the steps: constructing a first data set and a second data set, wherein the first data set represents the incidence relation between gene features and driving gene mutation types, and the second data set represents the incidence relation between the gene features and driving function types; training a first machine learning classification model by using the first data set, and predicting a new driver gene; confirming data corresponding to the new driver gene predicted by the first machine learning classification model as a second prediction data set; training a second machine learning classification model by using the second data set, and predicting the second prediction data set by using the trained second machine learning classification model to predict the driving function of the new driver gene. According to the invention, the prediction accuracy and the generalization ability of model application can be effectively improved.

The invention belongs to the field of molecular biology, and more specifically relates to a primer pair and probe combined product, a composition, and a kit used for detecting KRAS mutation, and applications thereof. The combined product comprises a LNA fluorescence probe and primers used for detecting different KRAS gene 2th exon mutation types; wherein the forward primer sequence of the primer pair comprises at least one locked nucleic acid, and/or, the LNA fluorescence probe sequence comprises at least one locked nucleic acid. The primer pair and the probe composition is rapid and convenient in detection, is high in specificity, sensitivity, reliability, detection efficiency, and accuracy, low in detection cost, short in detection time, and low in false positive rate. The kit can be used for detecting KRAS mutation, is capable of providing guidance for clinical diagnosis and treatment of KRAS mutation cancer, and is promising in application prospect.

The invention provides a kit and method for multiple detection of ROS1 fusion gene mutation and particularly, discloses primers and probes for multiple detection of ROS1 fusion gene mutation, and a kit comprising a primer and probe mixed solution. Six kinds of ROS1 fusion gene mutation types can be detected at the same time. The kit and method for multiple detection of ROS1 fusion gene mutation have the following advantages: the detection process is simple, the multiple detectable mutation types can be detected, the sensitivity is high, and the sample dependence is low and the like.

The invention relates to a primer group, kit and method for simultaneously detecting multiple mutations of HBA1/2 and HBB gene loci. The kit comprises the following reagents of (1) a reagent for multiplex PCR amplification; and (2) a reagent for constructing a third-generation sequencing library. The method comprises the following steps of (1) preparing a subject sample; (2) simultaneously amplifying HBA1/2 and HBB gene segments in the sample by multiple PCR; (3) constructing the third-generation sequencing library; and (4) sequencing and analyzing HBA1/2 and HBB gene mutation types.

The invention discloses a drug T-VISA-miR34a liposome capable of efficient and highly specific killing of P53 gene mutation type of breast cancer cells. A T-VISA-miR34a treatment carrier capable of efficient and highly specific killing of P53 gene mutation type of breast cancer cells has a nucleotide sequence shown as a SEQ ID NO.1. The drug T-VISA-miR34a liposome capable of efficient and highly specific killing of P53 gene mutation type of breast cancer cells includes a liposome and a T-VISA-miR34a treatment carrier encapsulated by the liposome; and the T-VISA-miR34a treatment carrier has a nucleotide sequence shown as a SEQ ID NO.1. Encapsulated and delivered by the liposome, the T-VISA-miR34a treatment carriers of the invention enrich in the breast cancer site, and can efficiently target breast cancer BCL-2 and CD44 targets, completely or incompletely pair with 3 ' UTR, degrade mRNA of the target gene or inhibit its translation and lead to apoptosis of breast cancer cells without killing the normal cells. The drug can be delivered systemically, has advantages of high gene expression amount, long time, high efficiency, exact efficacy, low toxicity and side effect, no toxicity on kidney or liver, and has broad prospects in the treatment of P53 mutation type breast cancer.

The invention discloses a method for recognizing a lesion area in a thyroid follicular tumor tissue pathological image, and predicts gene mutation. The method is an automatic auxiliary diagnosis technology based on a deep learning method, a lesion area in a thyroid follicular tumor pathological tissue slice image is automatically positioned by using big data and a deep convolutional neural network algorithm, and a pathological histological type and a gene mutation type of the lesion area are automatically recognized. According to the pathological tissue image, recognizing cases simultaneously carrying RAS and other driver gene mutations, and realizing histological classification of the follicular thyroid tumor and prediction of related gene mutations. According to the method, information is provided for clinicians, pathological diagnosis and clinical decision making are assisted, and development of digital pathology and precise medical treatment is promoted.

The invention discloses a pharmaceutical composition and an application thereof in preparation of drugs for treating targeted calreticulin mutation type myeloproliferative diseases, wherein the pharmaceutical composition is composed of MK-2206 and AZD 6244; CALR gene mutation type MARMO cells are adopted as research objects (the cells are specific unresponsive cells of rucotinib), a double-drug combination method capable of being applied to targeted CALR mutation type myeloproliferative diseases is explored, and a basis is provided for clinical drug combination treatment of patients who do not respond to rucotinib.

The invention relates to the field of biotechnology and medical science, in particular to a kit and a method for detecting human-derived KRAS gene mutation in excrement. The invention specifically relates to a detecting method for detecting mutation of 12nd and 13rd codons of the KRAS gene by taking an excrement sample as a specific detecting sample type. The kit relates to an excrement human-derived genome separating and purifying reagent and a KRAS gene mutation detecting reagent. The excrement human-derived genome separating and purifying reagent is used for obtaining human-derived genomesthrough separation and purification; the KRAS gene mutation detecting reagent is subsequently adopted for detecting the gene mutation. The excrement human-derived genome separating and purifying reagent is used for removing microbial genomes in the excrement and obtaining the human-derived genomes through purification and enrichment, and interference of non-human-derived genomes to detection is reduced; a primer and a probe are capable of inhibiting amplification of wild type KRAS and combination with the probe, increasing detection sensitivity of seven kinds of gene mutation types and detecting a sample containing 0.1 percent of KRAS gene mutation DNA (Deoxyribonucleic Acid).

The invention provides a primer and probe combination and a kit for multiplex real-time fluorescence PCR detection of beta-thalassemia gene mutation, and belongs to the technical field of molecular biology detection. The primer and probe combination comprises one or more of a first group of primer and probe combination to a twelfth group of primer and probe combination; each group of primer and probe combination comprises primers and probes for detecting two beta-thalassemia gene mutation types and two corresponding wild types; and conditions of the mutation types are indicated by an FAM fluorescence channel or an HEX fluorescence channel, and the wild types are indicated by an ROX fluorescence channel or a CY5 fluorescence channel. The primer and probe combination can simultaneously detect two or more sites in the mutation types and the wild types of a beta-thalassemia mutant gene, and reads information and a detection result through four different fluorescence channels, so that high-throughput and specific detection of beta-thalassemia is achieved.

The invention discloses a medicine for preventing and treating NCF1p.R90H gene mutation type systemic lupus erythematosus and application of hydroxychloroquine in the medicine for preventing and treating the NCF1p.R90H gene mutation type systemic lupus erythematosus, and relates to the technical field of biology. The medicine for preventing and treating the NCF1p.R90H gene mutation type systemic lupus erythematosus comprises hydroxychloroquine. The invention relates to application of hydroxychloroquine in preparation of the medicine for preventing and treating NCF1p.R90H gene mutant systemic lupus erythematosus. The invention provides a new application of hydroxychloroquine in NCF1p.R90H gene mutant systemic lupus erythematosus, and experimental comparison shows that the phenotype of lupus of an NCF1p.R90H gene mutant mouse is heavier; and the application of the hydroxychloroquine can obviously relieve lupus symptoms of NCF1p.R90H gene mutant mice. The invention develops a precise targeted therapeutic drug for treating lupus based on genetic factors.