168 results about "Mutation gene" patented technology

A system, method and program product, the method comprising, in one embodiment, providing a secure testing service for patient's identification and payment data encrypted at the data level, non-identifiable method for a patient to have a genetic tests to identify variants or mutations of their genes or combinations of genes that predispose the patient to develop or have an identified disease, comprising: obtaining electronically genomic information for a patient comprising at least one of, (a) DNA information, (b) RNA information, (c) complementary DNA or RNA information, (d) transfer RNA (tRNA) information (e) messenger RNA (mRNA) information, and (f) Expressed Sequence Tags (EST) to identify an abnormal gene; searching by one or more computers electronic databases using the identified abnormal gene to obtain genetic sequencing and basic research, patient predispositions, and pharmacognetics that predict the response and reaction of patients with identified genetic abnormalities related to the identified abnormal gene and individual medications that may be prescribed relating to the identified abnormal gene or a relationship with said identified abnormal gene; performing an update search on at least a periodic basis to learn about subsequent genomic research developments and treatments for the identified abnormal gene, specific genes with variants or mutated genes identified in the genetic test; sending electronically via an Internet communication link data comprising or derived from the searching step and the update search to the patient or a third party; and with the sending step performed using a privacy component that prevents transmission to any third party unless predetermined permission clearance data is in the system.

The invention provides a method and device for detecting single sample body cell mutation sites in abnormal tissue and a storage medium. The method includes the following steps that the effective sequencing sequence of an abnormal sample and the effective sequencing sequence of a simulated normal sample are obtained; in the effective sequencing sequences, basic groups, different from basic groups of the simulated normal sample, of the abnormal sample are obtained, according to the mutation basic group frequency, the types of the basic groups of the abnormal sample and the simulated normal sample are judged, the FISHER is then used for accurately detecting the difference of the types of the basic groups, and according to the difference, the mutation type is judged; by filtering the mutation types, false positive mutation and germ cell mutation are removed, and high-reliability somatic cell mutation sites are obtained. The method has the advantages of being high in sensitivity and specificity, has high sensitivity in mutation detection of known mutation genes, and new mutation genes can be found.

The present invention discloses primers, probes, a detection system and a kit for one time detection of lung cancer multiple genes, wherein the primers, the probes, and the distribution way for detecting 18 EGFR gene mutations, 7 KRAS gene mutations, BRAF V600E gene mutation, 5 fusion genes of ALK5, and 9 fusion genes of ROS1 are provided. According to the present invention, the detection kit adopts the 12 linking PCR reaction strip design, each 12 linking PCR strip detects multiple genes of a sample, the corresponding detection reagents and the internal control reagents are filled in the pipes 1-11 of the 12 linking PCR strip, the mutation is indicated by the FAM signal, and the internal control is indicated by the HEX (or VIC) signal; the pipe 12 is adopted as the DNA extraction quality external control detection pipe and is indicated by the FAM; and with the primers, the probes, the detection system and the kit, the one-time detection of the lung cancer EGFR / KRAS / BRAF / ALK / ROS1 gene can be achieved, such that the detection time is substantially shortened, the sensitivity is high, the specificity is strong, the operation is simple and rapid, and the reference for selection of tumor targeting drug therapy on lung cancer patients can be provided for clinician.

The invention relates to a gene detection kit, in particular to a helicobacter pylori (HP) type and drug-resistant mutation gene detection kit. The kit comprises PCR (polymerase chain reaction) solutions and nucleic acid membrane strips for HP type and drug-resistant mutation gene detection; the PCR solutions comprise a PCR solution I, a PCR solution II, a PCR solution III and a PCR solution IV; the PCR solutions also contain a pair of internal control primers respectively. The HP type and drug-resistant mutation gene detection kit can be used for distinguishing two types of HP in one test, and can be used for detecting 15 mutation types of 9 hot spot mutational loci related with drug fastness of 5 therapeutics, a VacA gene and a CagA gene are used for typing, and a reference basis is provided for judgment of illnesses. Mutation types of drug-resistant mutation detection are more and more comprehensive, and the condition of genotypic resistance of HP from which a patient suffers is quickly and comprehensively evaluated.

Described herein are methods and compositions for genomic editing. Clustered regularly interspaced short palindromic (CRISPR) allows for highly selective targeting and alteration of genetic loci. Here, the Inventors demonstrate CRISPR as capable of being used in living animals to prophylactically prevent a genetic disease from manifesting. Targeting and disruption of mutated rhodopsin gene prevents progression of retinitis pigmentosa in the retinal cells of a transgenic rat model. Such techniques allow for treatment methods in subjects with dominant genetic mutations, often associated with lack of a gene product, or a toxic gene product. The described technology effectively abrogates deleterious effects due to the presence of a mutated gene copy allowing the normal function of the wild-type protein to prevent cell and vision loss. The efficacy of these in vivo mechanisms are widely extensible to similar dominant negative gene mutations causing disease, or other types of genetic disease.

The present invention relates to a DNA polymerase having increased gene mutation specificity and a PCR buffer composition for increasing activity of the DNA polymerase. More specifically, provided, inthe present invention, are a DNA polymerase in which a mutation is induced at a specific amino acid position to increase gene mutation specificity, a nucleic acid sequence encoding the polymerase, avector comprising the nucleic acid sequence, and a host cell transformed with the vector. In addition, provided is a method for in vitro detecting one or more gene mutations or SNPs in one or more templates by using a DNA polymerase having increased gene mutation specificity, a composition for detecting a gene mutation or SNP comprising the DNA polymerase, and a PCR kit comprising said composition. Furthermore, provided are a PCR buffer composition for increasing the activity of a DNA polymerase having increased gene mutation specificity, a PCR kit for detecting a gene mutation or SNP comprising the PCR buffer composition and / or the DNA polymerase having increased gene mutation specificity, and a method for in vitro detecting one or more gene mutations or SNPs in one or more templates by using the kit.

The invention provides a biological information analysis method for human single-gene genetic disease detection. The method comprises the following steps: S1, screening mutation harmful sites; S2, screening the sample relationship of human single-gene genetic disease detection; S3, performing gene function screening. According to the method, harmful mutation sites can be quickly and clearly screened from human exon sequencing data; the annotation analysis on the detected SNP, InDel and other genomic variations and an external database is carried out to determine the genomic position, variationfrequency, protein harmfulness, genotype heterozygosity, functional pathways and other information of the variations; the candidate genes are screened by using an autosomal invisible genetic model, an autosomal dominant genetic model, new mutation screening and common mutation gene screening, so the candidate genes are determined, GO and KEGG enrichment analysis is performed on the candidate genes, and powerful evidences are provided for determining the candidate genes related to diseases.

The invention provides a tumor mutation site screening and mutual exclusion gene mining method, which comprises the following steps: (1) filtering a vcf file and an output file of ANNOVAR annotation software; (2) carrying out the descriptive analysis of different experimental groups of mutation sites; (3) constructing a mutation gene matrix; and (4) carrying out mutual exclusion and joint mutation analysis on the generated mutation gene matrix on the basis of a Fisher exact test to determine a mutual exclusion and joint mutation gene. The mutation site is filtered by the annotation information of the mutation site and basic parameters including a sequencing read number, site sequencing depth and the like, and then, the obtained mutation site is subjected to the descriptive analysis of different experimental groups of mutation modes and the mining of a mutual exclusion and joint mutation gene set.

The invention relates to the method of gene fixed-point mutation which is a modified overlap extension PCR method and the mutated gene. The process includes the fragment composition, the double mixing, the prepared extension, the whole DNA composition and after extension. The method is detected by the synzyme gene sam1 from the SAM of the Saccharomyces cerevisiae and gets the mutated gene modified by the rare coden. The SAM synzyme encoding by the gene can express in the yeast and improves the yield of the intracellular SAM. The invention can reach the many fixed-point mutations in a same reaction process.

This invention relates to the medicine preparation and the gene diagnosis application, especially in non-small cell lung cancer drug targeted therapy Preparation and treatment of non-small cell lung cancer of human epidermal growth factor receptor gene detection applications. Provides many kinds of person epidermal cell growth factor acceptor (EGFR) mutant gene, preparation for Chinese non-small cell lung cancer (NSCLC) targeted therapy drug target genes, gene diagnosis using target, especially for non-small Human cell lung cancer treatment epidermal growth factor receptor gene detection of gene targets, making malignancies, particularly NSCLC gene targeting drugs and the development of diagnostic reagents have a clear role in site, thus enabling more specific targeted therapy , to carry out the individualized cancer treatment.

The invention discloses a composition for detecting a hot-spot mutation gene of a lung cancer. The composition comprises primer sequences in SEQ NO:1 to SEQ NO:53, and block sequences in SEQ NO:54 to SEQ NO:63. The detection method for lung cancer-related mutation has the advantages of strong specificity, high sensitivity, small pollution, simplicity and rapidity of operation, high safety and the like, the detection result has good accuracy and repeatability, and the detection method is especially suitable for detection of hot-spot mutation of a lung cancer driver gene from body fluid such as plasma, is capable of noninvasively carrying out diagnosis, recurrence monitoring and therapeutic effect evaluation on a patient with the lung cancer in real time, and has an important value.

The invention relates to a method and device for constructing an omics data analysis platform, a computer device and a storage medium. The method includes: obtaining omics data, clinical data, mutation gene data, and literature summary information related to a preset disease; according to the omics data, the clinical data, the mutation gene data, and the literature summary information related to the preset disease, building a omics data database related to the preset disease; according to the characteristics of the preset disease, adding a preset bioinformatics analysis process based on the omics data database; according to the added bioinformatics analysis process, constructing an omics data analysis platform to graphically display the data in the omics data database. The method can construct a systematic and high-quality omics data analysis platform by which a user can group, standard analyze and functionally annotate candidate gene samples based on the clinical characteristics of acertain type of disease intuitively and conveniently.

The invention discloses a sequencing kit for screening hereditary thrombophilia related gene mutation, and a subsequent medical science interpreting database. A hereditary thrombophilia related gene group comprises SERPINC1, SERPIND1 and other seven genes. The sequencing kit comprises multiple PCR primers for amplifying all exons and relevant areas of the nine hereditary thrombophilia related genes. The kit for screening hereditary thrombophilia related gene mutation has the advantages of high detection efficiency, wide mutation gene coverage and high detection rate; and a medical science interpreting report given by the invention is accurate and authoritative.

The invention discloses a point mutation gene detection method. The method comprises the following steps: forming a complete oligonucleotide chain by treating a mutant gene as a template and connecting two oligonucleotide probes complementary and adjacent to the point mutation gene through a connection reaction, and marking the oligonucleotide chain with electrochemical luminescence molecules; and capturing through magnetic microspheres to separate out the complete oligonucleotide chain, detecting the electrochemical luminescence molecules marked on the complete oligonucleotide chain through using an electrochemical luminescence analyzer, and comparing the electrochemical luminescence signal intensities of a gene sample to be tested and a blank solution to find the difference in order to detect the point mutation gene. The invention also discloses a pint mutation gene detection kit. The kit includes two oligonucleotide probes complementary to the point mutation gene, a ligase, and magnetic microspheres having surfaces marked with the capturing molecules. The point mutation gene detection method has the advantages of high detection sensitivity, and accurate and reliable detection result, and has a very good application prospect in the tumor molecule diagnosis field, the genetic molecule diagnosis field and the like.

The invention provides a tumor mutation site screening and mutual exclusion gene mining system. The system comprises a filtering module which is used for filtering a vcf file and an ANNOVAR software output file in an exome processing process; an analysis module which is used for carrying out description analysis on different experiment group mutation sites; a gathering module which is used for gathering mutation genes of each sample and establishing a mutation gene matrix according to an experiment group mutation gene list; and a mining module which is used for carrying out Fisher precise checking based mutual exclusion and co-mutation analysis on the generated mutation gene matrix, thereby determining mutual exclusion and co-mutation genes. According to system, the mutation sites are filtered according to basic parameters such as annotation information of the mutation sites, the sequencing read number and site sequencing depth; and description analysis of different experiment group mutation modes and mining of co-mutation and mutual exclusion gene sets are carried out on the obtained mutation sites.

The invention discloses a group of sequencing kits which are used for screening ALL related gene mutation, and a subsequent medical science decoding database. The ALL related genes comprise 16 genes including FAT1 and KRAS. The sequencing kits comprise multiple PCR primers which are used for amplification of all the exons of the 16 ALL related genes. The detection kits used for screening ALL genemutation are high in detection efficiency, wide in mutation gene coverage, and high in detection rate; and obtained medical science decoding reports are accurate and authoritative.

The present invention is directed to nucleic acid probes, complexes and methods of using such probes and complexes for molecular haplotyping and genotyping of mutations, using melting curve analysis of nucleic acid probes to discriminate between and determine the identity of multiple alleles at one or more loci.

The embodiment of the invention provides a multiple myeloma (MM) prognosis related gene mutation detection kit and a detection method. The kit comprises multiple pairs of specific primers corresponding to the detected genes respectively; and 22 genes are selected from MM prognosis related high-mutation genes as the detection gens; according to the invention, two technologies of PCR and sequencing are comprehensively applied, rapid detection is realized for the mutation conditions of the MM prognosis related genes, specific exon sections containing hotspot mutation in the 22 detected genes are amplified through corresponding specific primers, and the mutation result is obtained through sequencing and comparison with a standard gene sequence. According to the technical scheme provided by the invention, the related genes are comprehensively selected according to the pathogenesis of MM and related signal path, and the applicability is strong; the detection specificity is high, the detection process is simple and accurate, the result is exact and clear, and the purposefulness is strong; a few experimental devices are used, and the cost is saved; and moreover, without radiolabelling, the safety is good.

The invention discloses a rice yellow-green leaf mutation gene YGL8, protein coded by the rice yellow-green leaf mutation gene YGL8, and application of the rice yellow-green leaf mutation gene YGL8. The nucleotide sequence of the rice yellow-green leaf mutation gene YGL8 is shown in SEQ ID No.11, and the amino acid sequence of the rice yellow-green leaf mutation gene YGL8 is shown in SEQ ID No.12. Compared with the wild type, according to the rice yellow-green leaf mutation gene YGL8, the base at the 671st position of an encoding frame is converted into T from C, and therefore the coding amino acid at the 224th position is varied to valine (Val) from alanine (Ala), by means of the rice YGL8 mutant obtained through gene mutation, all leaves are in the yellow green color during the whole growth period, it is found through genetic analysis that the character is the recessive character, field purification and seed purity authentication can be conducted with the character serving as the molecular marker, and important significance in genetics and breeding of rice is achieved.

The invention relates to the technical field of molecular biology, and discloses primers, probe, method and kit for detecting mycoplasma pneumoniae nucleic acid and drug-resistant mutation through a real-time fluorescent PCR. By means of a Taqman-MGB probe real-time fluorescent PCR method, the primers and the fluorescent marking probe are designed for a mycoplasma pneumoniae specificity P1 gene, 23S rRNA gene drug resistance mutation genes (2063A / G and 2064A / G) and interior label (int) nucleic acids, the detection result is judged through the combination of an amplification curve and a CT value through PCR reaction detection fluorescent signals, and a target gene is detected through the change of the fluorescent signals. The primers, probe, method and kit have the advantages of being high in accuracy, specificity and sensitivity, and mycoplasma pneumoniae and drug resistance mutation sites in a throat swab sample can be rapidly and accurately detected.

Disclosed are various highly sensitive detection methods, particularly improved PNA-LNA-PCR clamp methods, as methods for detecting the presence or absence of a mutated gene included in a gene pool rapidly, in a simple manner, with high accuracy, and with high sensitivity. As a previous step for the main detection step, a previous amplification step is carried out, wherein the previous amplification step comprises allowing (1) a clamp primer which comprises a PNA that can hybridize with the entire region or a part of a target site comprising the sequence for wild-type gene or a sequence complementary to the wild-type gene, (2) a primer which can amplify a region containing a target site comprising the sequence for the mutated gene, and (3); the gene pool to coexist in a reaction solution for a gene amplification reaction and selectively amplifying the region containing the target site of the mutated gene by a gene amplification method.

The invention discloses a kit and a special primer and probe thereof which are used for detecting the MPLW515L mutation of myeloid proliferation diseases. The kit provided by the invention comprises a primer and a TaqMan-MGB probe; wherein, the nucleotide sequence of the primer is shown by SEQ ID NO:1 and SEQ ID NO:2 in a sequence table; the nucleotide sequence of the TaqMan-MGB probe is shown by SEQ ID NO: 3 and SEQ ID NO:4 in the sequence table. The kit provided by the invention is used for detecting the MPLW515L mutation in clinic and scientific research, which not only provides a fast, reliable and accurate new way for diagnosing MPDs, but also can furthermore provide the exact ratio of the mutation genes of MPLW515L and the genes of wild MPL, thus providing proof for curative effect observation and the dynamic observation of minimal residual diseases.

The invention proposes a lymphoma gene capture chip, which comprises: a substrate and a probe, wherein the probe is arranged on the substrate, and specifically recognizes at least one of genes represented by table 1. According to the present invention, the chip comprises the related Driver Genes, the high frequency mutation genes, the important genes in five cancer-related signaling pathways, thetargeted drug-sensitive and chemotherapeutic drug-sensitive genes and the drug-resistant related genes in various subtypes of common highly-incident lymphoma, can be used for the detection of the single-nucleotide site variation (SNV), the Indel insertion or deletion (Indel), the gene copy number variation (CNV) and the chromosome structural variation (SV) of lymphoma-associated genes, can achievethe detection of various subtypes of lymphoma, and can be effectively used for the early screening, the assisted diagnosis, the medication guidance and the recurrence monitoring of lymphoma.

The invention provides a multiplex amplification system based on rapid mutation Y-STR gene loci, a method and application. The multiplex amplification system comprises 13 gene loci, namely, DYF387S1, DYF399S1, DYF403S1a / b, DYF404S1, DYS449, DYS518, DYS526b, DYS547, DYS570, DYS576, DYS612, DYS626 and DYS627, wherein sequences of amplification primer pairs are shown as SEQ ID NO.1-26, and the gene loci are marked through four fluorescein of 6-FAM, VIC, NED and PET respectively. According to the multiplex amplification system based on the rapid mutation Y-STR gene loci, the method and the application, for the 13 rapid mutation Y-STR gene loci, the primers are designed on the basis of group frequency survey, and the gene loci are integrated into the multiplex reaction system according to specific combination and primer concentration, so that amplification and detection of the gene loci are achieved simultaneously, and the amplification effect is better; when the multiplex amplification system is applied to the detection process, convenience and rapidness are better achieved, the typing result is clear, the correctness, sensitivity and stability of gene locus detection can be guaranteed, and higher individual recognition rate is achieved.

The invention discloses an obtaining method of gene-transition cow, which comprises the following steps: connecting target carrier with linear beta-milk globulin protein mutation gene with somatic cell through isogenesis recombination; forming beta-milk globulin protein gene silence conduct cell; guiding the conduct cell in the cow enucleated mother cell to rebuild embryo; transplanting the recombined embryo in the pregnant cow uterus. The method makes cow produce more milk without beta-milk globulin protein, which is more nutritious for people.

The invention discloses a PTGIS gene mutation related to pulmonary hypertension and application thereof, relating to the field of pulmonary hypertension diseases. According to the invention, through whole genome sequencing, the condition that PTGIS gene has three PTGIS rare variants, namely c.755G more than A, c.1339G more than A and g.23867G more than A positioned at an intron-exon splicing site,which are tightly related to pulmonary hypertension is discovered. For the discovery, one the one hand, the pathogenesis of a patient suffering from pulmonary hypertension is explained favorably, andone the other hand, a mutant type PTGIS gene with the mutation site and corresponding mutation type PTGIS protein are taken as biomarkers of pulmonary hypertension, which can be used for evaluating the risk of the patient suffering from the pulmonary hypertension, or can be used for early warning that the descendant of a PTGIS mutant gene carrier has the risk of suffering from pulmonary hypertension before pregnancy; also the mutation site can be taken as a target point, thus providing a novel concept and measure for treating pulmonary hypertension.

The invention discloses a somatic cell detection method. The detection method comprises the following steps of firstly, acquiring a somatic cell sequence set; extracting the characteristic for describing a genome candidate mutation site, of each somatic cell sequence in the somatic cell sequence, acquiring a sample dataset, and extracting a first training set, a second training set and a testing set from the sample dataset; then establishing a full-connecting neural network model; training and verifying the full-connecting neural network model by means of the first training set, the second training set and the testing set, obtaining a trained full-connecting neural network model; finally, obtaining a to-be-detected complete genome sequence, and extracting the characteristic for describingthe genome candidate mutation site, of the to-be-detected complete genome sequence, and obtaining to-be-detected data; and inputting the to-be-detected data into the trained full-connecting neural network model for detecting. The somatic cell detection method realizes detection of a mutation gene and further improves tumor disease diagnosis accuracy.

The invention discloses a wheat ALS mutation gene. The 331th nucleotide of an ALS gene sequence of 6BL chromosome of a wheat B genome is changed into nucleotide A from G. The invention further discloses wheat ALS mutation protein encoded by the wheat ALS mutation gene and application of the wheat ALS mutation protein. The protein is from a wheat mutant plant of an anti-ALS inhibitor herbicide. Compared with a wheat mild ALS sequence, the protein sequence mutates at a Val111 site. A green plant expresses that the mutation protein sequence can be resistant and tolerant to an acetolactate synthase inhibitor herbicide, especially an imidazolone herbicide. After 3mL of imazameth / L water (9-fold recommended concentration) is applied to a wheat seedling with one leaf and one core of the wheat ALS mutation protein, the plant can still normally grow, develop and fruit.

The present invention is directed to a method, kit and primers for detecting fetal deafness pathogenic gene mutations. The method of the invention comprises: (a) designing primers according to the pre-determined mutation loci of deafness pathogenic genes; (b) extracting plasma DNAs in a pregnant woman; (c) connecting the extracted plasma DNAs with pre-amplification linkers to obtain connected products; (d) PCR pre-amplifying the connected product to obtain pre-amplified products; (e) cyclizing the pre-amplified products to obtain cyclised DNAs; (f) PCR amplifying the cyclised DNAs using the designed primers to obtain amplified products; and (g) high throughput sequencing the amplified products and analyzing the mutations of the fetal deafness pathogenic genes. The invention can effectively determine whether the pre-determined loci on deafness pathogenic genes have been mutated as well as the mutation type.

The invention relates to a method for carrying out gene knock-out or point mutation on a colibacillary genome by an oligonucleotide mediated recombineering measure. The method comprises the following steps: firstly, integrating a gene box of a cane sugar 6-fructosyltransferase gene and a kanamycin resistance gene containing isogenous arms into a target gene through recombineering; and then, carrying out isogenous recombination on oligonucleotide containing the isogenous arms and the isogenous sequences on the genome through the recombineering to remove the cane sugar 6-fructosyltransferase gene and the kanamycin resistance gene. Thereby, the gene knock-out and point mutation without any basic group redundance are realized. The gene knock-out oligonucleotide design conforms to the basic group sequences of both sides of the target genes, and base groups needing the mutation are introduced in the oligonucleotide by the point mutation oligonucleotide. The invention does not need in-vitro clone and in-vitro realization of some basic group bit mutation or mutation gene transplanting into germ bodies. The method of the invention can provide an effective early-stage operation platform for the industrial production and the research such as genetics, molecular biology, biochemistry and the like.