Product
Patsnap Eureka
For R&D, Patsnap Eureka makes reading and utilizing patents & technical documents easy.
Patsnap Eureka AIR
Designed for self-driven R&D workflows. Generate viable solutions, solve complex R&D challenges, empower your innovation with AI.
Patsnap Eureka Materials
Designed for material experts only. Revolutionize your material R&D, from search, analyze, to developing new materials.
Feature
TechResearch
Generate reliable direction feasibility study reports for your R&D in just a few steps.
TechSeek
Discover and master advanced knowledge NOW. Basics, ideas, possibilities, all at once.
TechMind
As an expert in R&D Theories, TechMind can generates customized viable solutions instantly.
TechRisk
Analyze your overall solution with one click, know your potential R&D risks in advance.
TechMonitor
Get weekly tech updates, stay abreast of the latest tech innovations and key insights.
Patents
Literature
Hiro is an intelligent assistant for R&D personnel, combined with Patent DNA, to facilitate innovative research.
151 results about "Pathogenic mutation" patented technology
Efficacy Topic
Property
Owner
Technical Advancement
Application Domain
Technology Topic
Technology Field Word
Patent Country/Region
Patent Type
Patent Status
Application Year
Inventor
A pathogenic or likely pathogenic mutation is a change in the genetic sequence that causes a specific genetic disease.
DNA (Deoxyribonucleic Acid) library for detecting cholestatic jaundice pathogenic genes and application thereof
ActiveCN104313698AFree from painSuitable for testingNucleotide librariesMicrobiological testing/measurementA-DNAExon
The invention discloses a DNA (Deoxyribonucleic Acid) library for detecting cholestatic jaundice pathogenic genes by virtue of a high-throughput sequencing technology and application thereof and in particular relates to a super-multiplet PCR primer which can cover the exon and adjacent areas of the genes according to 60 cholestatic jaundice pathogenic genes. The genome DNA of the sample is subjected to super-multiplet PCR amplification, the amplification product is sequenced by utilizing the high-throughput sequencing technology, the pathogenic mutation is searched, the genetic etiology of the cholestatic jaundice is clear, and a theoretical basis of genetics and molecular biology is provided for clinical diagnosis. The DNA library has the characteristics of accuracy, flexibility, rapidness and low cost. Moreover, according to the detection area of 60 genes, 15 common cholestatic genetic defects can be detected, and the DNA library has significance and clinical values on differential diagnosis of the cholestatic jaundice.
Owner:TONGJI HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI TECH
Targeting-based new generation sequencing deafness gene detection set and kit, and detection method
InactiveCN106399504AWide coverageImprove throughputMicrobiological testing/measurementDNA/RNA fragmentationData informationTest sample
The invention discloses a targeting-based new generation sequencing deafness gene detection set and kit, and a detection method. The deafness gene detection set comprises 258 genes, 81 non CDS regions and a whole mitochondrial group. The detection method comprises the steps: designing primers for a part of or all of deafness disease genes and loci; with a to-be-tested sample DNA as a template, carrying out PCR amplification with the primers, and constructing a deafness detection gene library based on the amplified product; and according to the deafness detection gene library, establishing a sequencing template, carrying out high-throughput sequencing, and analyzing sequencing data information. The invention also discloses the related kit. Not only can conventional known mutations be detected out, but also new mutation types also can be detected out; in addition, sequencing and analysis of a large number of objective regions also can be completed within a short period of time, and positions, possible to generate pathogenic mutation, of all exons and regulatory regions of the hundreds of genes associated with deafness are subjected to related sequencing and analyzing.
Owner:SUZHOU BASECARE MEDICAL DEVICE CO LTD
Whole-exome sequencing data analysis method
The invention provides a whole-exome sequencing data analysis method. The method comprises the following steps of 1) quality control of sequencing data; 2) genome mapping of the sequencing data; 3) seeking of high-confidence genome mutation by the sequencing data; and 4) annotation of mutation sites. According to the method, the analysis of large-scale data is finished through simple parameter submitting, wherein the analysis of the large-scale data comprises quality detection of original data, data denoising and genome mapping of sequencing read; an upstream part takes over original sequencing data of a lower machine; the analysis of the sequencing data is finished through a parameter automated submitting and analysis module; and candidate pathogenic mutation sites and related genes are output, thereby providing a basis for later experimental verification.
Owner:WANKANGYUAN TIANJIN GENE TECH CO LTD
DNA library for detection and diagnosis of hereditary cardiomyopathy causing genes and application thereof
ActiveCN105506115AImproved prognosisActive treatmentMicrobiological testing/measurementCDNA libraryHypertrophic cardiomyopathy
The invention discloses a DNA library for detection of hereditary cardiomyopathy causing gene mutation through the targeting high-flux semiconductor sequencing technology and application thereof. Specifically, a primer pool is designed according to 80 hereditary cardiomyopathy causing genes, super-multiple PCR amplification is performed on sample genome DNA, and an amplified product is sequenced through the high-flux semiconductor sequencing technology to find pathogenic mutation so as to provide genetic and molecular biological theoretical bases for clinical diagnosis. The DNA library has the advantages of being accurate, quick, flexible and low in cost; through 80 gene detection areas related to the DNA library, five kinds of common hereditary cardiomyopathy including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy and left ventricular myocardial densification incomplete cardiomyopathy can be detected, and the DNA library has an important meaning and clinical value for diagnosis and differential diagnosis of the hereditary cardiomyopathy.
Owner:TONGJI HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI TECH
Exome potential pathogenic mutation detection method based on family line
InactiveCN105925685ASolve the problem of mining potential pathogenic variantsImprove heterogeneityMicrobiological testing/measurementBiostatisticsFiltrationSingle mutation
The invention provides an exome potential pathogenic mutation detection method based on a family line. The detection method comprises the following steps: 1) reading a result file of an exome sequencing data processing flow, and conducting function filtering; 2) reading the file obtained in the last step, extracting mutations in all samples, calculating a union set, and then combining all samples, so that a matrix is constituted; 3) extracting mutation information in the matrix obtained in the last step, enumerating and assessing pathogenicity of single mutation and pathogenicity of combined dual-site mutation, so that a potential pathogenic mutation list is obtained; and 4) in accordance with the list obtained in the last step, calculating the appearance situations of sites in various samples and target genes. According to the method disclosed by the invention, data integration and basic filtration are completed by taking an output result of the common exome sequencing processing flow as an input condition; by virtue of a special mutation screening algorithm, a candidate set of the potential pathogenic mutations is provided; and the method focuses on solving a problem on potential pathogenic mutation mining of sequencing data with high heterogeneity, high mutation rate and high noise.
Owner:WANKANGYUAN TIANJIN GENE TECH CO LTD
Probe and non-invasive kit for detecting pseudo-hypertrophic muscular dystrophy
ActiveCN104498614ASolve bottlenecksFair priceMicrobiological testing/measurementDNA/RNA fragmentationDmd geneAmniotic fluid
The invention discloses a probe and a kit for detecting pseudo-hypertrophic muscular dystrophy. The probe for detecting pseudo-hypertrophic muscular dystrophy comprises nucleic acid sequences shown by SEQ NO:1-SEQ ID NO:546, and the kit for detecting pseudo-hypertrophic muscular dystrophy comprises nucleic acid sequences shown by SEQ ID NO:1-SEQ ID NO:546. The probe and the kit for detecting pseudo-hypertrophic muscular dystrophy can be used for detecting complete mutation information of DMD genes, including exon deletion / repetition and point mutation, have the advantages of completeness, rapidness, accuracy and appropriate price, and can be used for solving the problems of DMD molecular diagnosis; the kit disclosed by the invention is suitable for detection of various tissue samples of muscle, blood, amniotic fluid and the like, can detect pathogenic mutation of exons and introns as well as known mutations and unreported pathogenic mutations, and is also used for detecting whether patient genotypes are corrected or not after stem cell therapy.
Owner:GUANGZHOU HETAI TECH CO LTD
Multi-factor model for predicting breast cancer onset risk and establishing method of multi-factor model
InactiveCN107201401AVerify accuracyAccurate Gene Mutation InformationMicrobiological testing/measurementDiagnostic recording/measuringFamilial breast cancerIntervention measures
The invention discloses a multi-factor model for predicting a breast cancer onset risk and an establishing method of the multi-factor model. The establishing method of the multi-factor model comprises screening gene detection, wherein the screening comprises the following steps: (1) collecting and treating a peripheral blood sample; (2) establishing library DNA of the sample, and performing computer sequencing on a Hiseq sequencing platform; (3) performing biological information analysis on computer data, and finding pathogenic mutation; (4) sequencing mutation sites by using a golden standard Sanger sequencing technique, thereby obtaining accurate gene mutation information. By adopting the multi-factor model which is disclosed by the invention and is used for predicting the breast cancer onset risk, a part of people can be screened and diagnosed at an early stage, active interference measures can be taken, and the multi-factor model is particularly applicable to prediction on high-risk people suffering from familial breast cancer.
Owner:THE SECOND PEOPLES HOSPITAL OF SHENZHEN
Genetic diagnosis reagent for Citrin deficiency disease and application of genetic diagnosis reagent
InactiveCN103421909AStable implementationAvoid pollutionMicrobiological testing/measurementDNA/RNA fragmentationHigh concentrationQuantitative PCR instrument
The invention belongs to the technical field of biological products, and relates to a genetic diagnosis reagent for the Citrin deficiency disease and an application of the genetic diagnosis reagent. The quantitative PCR technology of Taqman MGB probes is used for detecting one or more of nine mutation sites of a Citrin deficiency disease gene SLC25A13, and therefore the majority of pathogenic mutations can be detected. According to the genetic diagnosis reagent for the Citrin deficiency disease, a quantitative PCR instrument and a common PCR reagent can be used; the nine Citrin deficiency disease mutant genetic loci are detected in an amplification mode so that a detection result can be obtained within 3-5 hours; the genetic diagnosis reagent can be used for detecting the Citrin deficiency disease in a single laboratory closed tube provided with the quantitative PCR instrument, thereby avoiding the situation that high concentration samples are contaminated; moreover, the genetic diagnosis reagent can be conveniently produced in a biotechnological company and used for detection in a biomedical detection mechanism, thereby meeting the requirement for industrialization promotion.
Owner:SHANGHAI LANMING BIOTECH CO LTD
DNA library for detecting pathogenic genes of genetic vascular diseases and application thereof
ActiveCN106350589AHigh risk of sudden deathAggressive surgical approachMicrobiological testing/measurementProtein nucleotide librariesCDNA libraryAortic dissection
The invention discloses a DNA library for detecting pathogenic genes of multiple genetic vascular diseases through a targeted high-throughput semiconductor sequencing technology and application thereof. The operating method specifically comprises the following steps: designing a primer pool according to 151 pathogenic genes of genetic vascular diseases, performing super-multiple PCR amplification on genomic DNA of samples, sequencing the amplification products by utilizing the high-throughput semiconductor sequencing technology, searching pathogenic mutations, and providing genetic and molecular biological theoretical basis for clinical diagnosis. The DNA library disclosed by the invention has the characteristics of accuracy, rapidness, flexibility and low cost, the 151 gene detection areas involved in the invention are capable of detecting multiple genetic vascular diseases such as aortic dissection, arterial aneurysm, hemorrhagic apoplexy and the like, and the DNA library has great significance and clinical values on diagnosis and differential diagnosis of the genetic vascular diseases.
Owner:ANNGEEN BIOTECHNOLOGY CO LTD
BRCA2 gene g.32912799T>C mutation and application of mutation in auxiliary breast cancer diagnosis
ActiveCN104988141AIncreased sensitivityImprove featuresMicrobiological testing/measurementDNA/RNA fragmentationFhit geneGenetic engineering
The invention belongs to the field of genetic engineering and tumor medical science and discloses a BRCA2 gene g.32912799T>C mutation and application of the mutation in auxiliary breast cancer diagnosis. Compared with a normal BRCA2 gene sequence, the BRCA2 gene mutation has a g.32912799T>C locus mutation. The BRCA2 gene g.32912799T>C mutation provides a new pathogenic mutation locus of breast cancer and can be used for diagnosing breast cancer at the early stage.
Owner:NANJING YIKE POPULATION HEALTH RES INST CO LTD
Detection system of SMA (spinal muscular atrophy) related gene and detection kit
ActiveCN109136366AHigh detection sensitivityImprove detection resolutionMicrobiological testing/measurementCarrier screeningImage resolution
The invention relates to a detection system of an SMA (spinal muscular atrophy) related gene and a detection kit and belongs to the clinical molecular diagnosis technology in the biomedical field. Thedetection system can simultaneously amplify and detect 2 SMN gene pathogenic mutation sites and 3 contrast sites in one multiple compound PCR amplification system. The detection system has high sensitivity and high resolution and can clearly and effectively distinguish 1 bp difference in the general 100-500 bp detection range; the detection speed is high, required operation is few, automatic massdetection can be realized, the operation intensity and detection cost can be greatly reduced, and results can be obtained within 4 h. Detection samples can be amplified by blood, blood cards and other detection materials, a DNA extraction step is omitted, the operation is more convenient, and the system is suitable for mass operation. As supplement of detection of SMN1 seventh exons, the detection has important application values for SMA study and carrier screening.
Owner:PLA NAVY GENERAL HOSIPTAL
Screening device of pathogenic uniparental disomy, storage medium and processor
Owner:GUANGZHOU KINGMED DIAGNOSTICS GRP CO LTD
Gene detection probe, primer and kit for spinal muscular atrophy
InactiveCN108456726AAvoid clinical misdiagnosisSolving Amplification Consistency IssuesMicrobiological testing/measurementDNA/RNA fragmentationSpinal muscular atrophiesFluorescence
The invention relates to a gene detection probe, a primer and a kit for spinal muscular atrophy, wherein the gene detection probe for spinal muscular atrophy comprises a probe SMN1-7 for detecting a SMN1 gene, and the nucleotide sequence is shown in SEQ ID No. 1; a probe SMN2-7 for detecting a SMN2 gene, and the nucleotide sequence is shown in SEQ ID No. 2. According to the invention, a multiple fluorescence quantitative detection system with high specificity and low cost is established. High frequency pathogenic mutation detection of the SMN1 and SMN2 genes in one tube is realized. In addition, a multiple scorpion tail primer amplification system is established, so that the problem of the amplification consistency of the multiple fluorescence quantitative systems is solved, and the quantitative accuracy is improved.
Owner:深圳会众生物技术有限公司
Pathogenic mutation of osteogenesis imperfecta disease and detection reagent of pathogenic mutation
ActiveCN109897894ASignificant genetic heterogeneityBirth preventionMicrobiological testing/measurementGenetic engineeringCol1a1 geneAmino acid change
The invention discloses a pathogenic mutation of osteogenesis imperfecta and a detection reagent of the pathogenic mutation. According to a novel mutant COL1A1 gene, the mutated COL1A1 gene is a single point mutation c.1822G>A (chr17:48270211), a heterozygous mutation is pathogenic and in a mode of dominant heredity, the amino acid change is p.Gly608Ser, dyssynthesis of I-type collagen in connective tissue is caused by locus mutation of the p.Gly608Ser, and a lesion is formed. A kit for detection of osteogenesis imperfecta includes a reagent for detection of the 1822bpth locus of a COL1A1 geneCDS or a reagent for detection of the 608th amino acid locus of a COL1A1 protein. The pathogenic mutation (c.1822G>A on the COL1A1 gene) of the osteogenesis imperfecta disease is obtained, and the osteogenesis imperfecta disease can be diagnosed by detecting the mutation.
Owner:黄欢
Genetic diagnosis kit of Alzheimer's disease
PendingCN105969885AEasy to detectGuaranteed speedMicrobiological testing/measurementDiseaseSequence analysis
The invention discloses a genetic diagnosis kit of Alzheimer's disease. The kit can detect, research and report 10 virulence genes related to Alzheimer's disease, including APP, APOE, PSEN1, PSEN2, GSK3beta, DYRK1A, Tomm40, CLU, PICALM and TAU. A detecting method comprises the following steps: designing and synthesizing specific primers of all genes, collecting the sample of a individual to be detected, adopting the RT-PCR technology to carry out sequencing analysis on obtained specificity DNA products of all genes, comparing the sample sequence with the normal gene sequence, and analyzing whether pathogenic mutations exist to evaluate the morbidity risk of the individual. The genetic diagnosis kit of Alzheimer's disease can detect different pathogenic mutation sites of CDS at a time and has the advantages of high simpleness, convenience, rapidity and sensitivity, reliable preparation and excellent specificity.
Owner:江苏雄鸣医药科技有限公司
Detection primer, detection kit and detection method of Leber's hereditary optic neuropathy (LHON) mitochondrial DNA gene mutations
ActiveCN106755335AResolve SensitivitySolve the characteristicsMicrobiological testing/measurementDNA/RNA fragmentationGenetic dnaGene mutation
The invention relates to a detection primer, a detection kit and a detection method of Leber's hereditary optic neuropathy (LHON) mitochondrial DNA gene mutations. The invention, on the basis of Sanger sequencing principle, has the characteristics of being highly sensitive, stable and accurate; four most common pathogenic mutations of LHON mtDNA can be simultaneously detected, so that the problems of an existing LHON mitochondrial DNA mutation detection method, which is low in sensitivity, not strong enough in specificity, capable of causing pollution easily, high in expense and the like, can be solved; therefore, an accurate gene diagnosis method is provided for LHON; and the invention has important implications for genetic counseling and gene therapy of the disease (the LHON).
Owner:ZHONGSHAN OPHTHALMIC CENT SUN YAT SEN UNIV
Detection kit and method for Duchenne/Becker muscular dystrophy based on multiplex PCR (Polymerase Chain Reaction) trapping technique
ActiveCN108220418ASample quality requirements are lowHigh detection sensitivityMicrobiological testing/measurementDNA/RNA fragmentationDmd geneIntein
The invention discloses a multiplex PCR (Polymerase Chain Reaction) trapping primer group for a DMD (Duchenne Muscular Dystrophy) gene, a mutation detection kit for the DMD gene and a mutation detection method for the DMD gene. The inventors provide the multiplex PCR trapping primer aiming at the sequences of 79 exons and bilateral 50bp introns and 23 known intron pathogenic mutations of the DMD gene; moreover, the mutation detection method of the DMD gene is provided based on the primer group; the mutation detection method is high in detection sensitivity, good in accuracy, highly consistentin amplification efficiency and low in requirement on quality of a DNA (Deoxyribonucleic Acid) sample, and is used for solving the problem that the complete detection on the mutation information, particularly on loss of heterozygosity / repetition, of the DMD gene is difficultly carried out in one time by adopting a multiplex PCR trapping technique in the prior art.
Owner:CAPITALBIO GENOMICS
Kit and PCR amplification method for detection of one pathogenic mutation site of male infertility Dmc1 gene
InactiveCN103911424AStrong specificityEasy to operateMicrobiological testing/measurementEnzyme digestionMale infertility
The invention discloses a kit and a PCR amplification method for detection of one pathogenic mutation site of a male infertility Dmc1 gene. The method is characterized in that a modified mutation-detection primer resistant to 3'-5' exonuclease enzyme digestion is used in a PCR reaction in which a high-fidelity DNA polymerase participates, so that the specificity of PCR is improved; and the existing condition of a gel electrophoresis product band can be directly observed to judge the genotype of the Dmc1 gene corresponding mutation site. The detection kit has low requirements on instruments and equipment, is simple in operation, is economic, has no need of sequencing, and can be operated in common molecular biology laboratories.
Owner:GENEHEAL BIOTECH
DNA library for detecting idiopathic pulmonary fibrosis pathogenic genes and application of DNA library
ActiveCN106319058AComprehensive molecular diagnosisQuick and comprehensive testingMicrobiological testing/measurementProtein nucleotide librariesCDNA libraryA-DNA
The invention discloses a DNA library for detecting idiopathic pulmonary fibrosis pathogenic genes with a targeted high-throughput semiconductor sequencing technique and an application of the DNA library. Specifically, a primer pool is designed according to 92 idiopathic pulmonary fibrosis pathogenic genes, super-multiplet PCR amplification is performed on sample genome DNA, an amplification product is sequenced with the high-throughput semiconductor sequencing technique, pathogenic mutations are searched, and a theoretical basis of genetics and molecular biology is provided for clinical diagnosis. The DNA library has the characteristics of being accurate, rapid, flexible and low in cost. Involved 92 gene detection regions can be used for detecting various types of idiopathic pulmonary fibrosis related to known genes and have great significance and clinical value in diagnosis and differential diagnosis of the idiopathic pulmonary fibrosis.
Owner:汪道文
Amplification primer for detecting PAH (phenylalanine hydroxylase) gene mutation, kit and detection method thereof
ActiveCN108060227AAchieve full coverageDetection helpsMicrobiological testing/measurementDNA/RNA fragmentationForward primerPhenylalanine hydroxylase
The invention discloses an amplification primer for detecting PAH (phenylalanine hydroxylase) gene mutation, a kit and a detection method thereof. A primer group for detecting PAH gene mutation through PCR (polymerase chain reaction) specific amplification comprises 9 pairs which are respectively primers used for amplifying PAH gene exon 1 upstream lateral sequences (positioned at the gene 5' end)to an introne 2 (a forward primer is shown as SEQ ID NO:1, and a reverse primer is shown as SEQ ID NO:2), primers are used for amplifying PAH gene introne 2 upstream (5' end) to introne 2 downstream(3' end) (a forward primer is shown as SEQ ID NO:3, and a reverse primer is shown as SEQ ID NO:4), and the like. The PAH gene whole coverage is realized; the detected sequence length reaches 88171bp;the intron variation and structure variation detection can be facilitated; the detection rate of pathogenic mutation can be improved; the operation is simpler; the cost is low; in addition, each amplification fragment and the adjacent fragment have the overlapping region; the primers can be used for fragment splicing and haplotype construction.
Owner:NANJING MATERNITY & CHILD HEALTH CARE HOSPITAL
Construction method of Pdzd7 gene mutant animal model
The invention discloses a construction method of a Pdzd7 gene mutant animal model based on a CRISPR / Cas9 technology. The construction method comprises the following steps: (1) designing and selectingproper Guide RNA of a targeted mouse Pdzd7 gene; (2) synthesizing Cas9 mRNA and Guide RNA in vitro; (3) preparing an injection sample jointly from Guide RNA and Cas9 mRNA in an equal molar ratio to inject an oosperm; (4) identifying the obtained F0 generation mouse; and (5) passaging the positive F0 generation mouse and obtaining and identifying F1 generation mouse. The method can be used for obtaining a Pdzd7 gene mutant mouse model close to p.C732LfxX18 pathogenic mutation in human kind successfully, thereby providing a basis for researching related factors of pathogenic mutation of PDZD7 inhuman kin and diagnoses and treatment.
Owner:山东大学深圳研究院 +1
A base editing system, a method, a kit used for specificity repair for human HBB gene mutation and an application therefor
The invention belongs to the field of gene treatment, and specifically relates to a method adopting a base editing system to repair beta thalassemia caused by A>G pathogenic mutation. The provided base editing system specifically repairs the above mutational method, mutational gRNA above specificity targeting and base editing protein. HBB: c.-79A>G and HBB: c.-78 A>G of human can be accurately repaired by utilizing the method. The method is high in efficiency and good in specificity. The gene editing system can be introduced into a somatic cell or individual of human, accurate repair can be performed on the A>G pathogenic mutation, thereby beta thalassemia disease can be cured, and the technology has wide application prospect in the field of gene treatment.
Owner:SUN YAT SEN UNIV
Construction method of Adgrv1 gene Y6236fsX1 mutant animal model
The invention discloses a construction method of an Adgrv1 gene Y6236fsX1 mutant animal model based on CRISPR / Cas 9 technology. The method comprises the following steps: (1) designing and choosing theGuide RNA (ribonucleic acid) and repair template DNA (deoxyribonucleic acid) of proper target mouse Adgrv1 genes; (2) synthesizing Cas9 mRNA, the Guide RNA and the repair template DNA in vitro; (3) enabling the Guide RNA, the Cas9 mRNA and the repair template DNA to be jointly prepared into an injection sample in a mole ratio so as to be injected into a fertilized ovum; (4) identifying obtained F0-generation mice; and (5) enabling positive F0-generation mice to perform passage and obtaining and identifying F1-generation mice. The method can be used for successfully obtaining an Adgrv1 gene Y6236fsX1 mutant mouse model corresponding to Y6244fsX1 pathogenic mutations in human, thereby laying a foundation for researching relevant factor and diagnostic treatment of the Y6244fsX1 pathogenic mutations in human.
Owner:山东大学深圳研究院 +1
Neuronal intranuclear inclusion disease NOTCH2NLC gene GGC repeat amplification detection kit
PendingCN112094893AImprove throughputSmall sample sizeMicrobiological testing/measurementInclusion bodiesPotentiator
The invention provides a method and kit for rapidly detecting abnormal GGC repeat amplification of NOTCH2NLC genes. The components of the kit include a reaction solution, a reinforcing agent, a specific primer, dNTPs and DNA polymerase. Through a high GC content PCR system, GGC can be repeatedly amplified through the DNA polymerase of high thermal stability and high GC content templates, so that the number of GGC repeat of to-be-detected samples can be calculated through fluorescence scanning, and whether amplification occurs can be judged as well. The kit can detect the repeat number of NOTCH2NLC gene GGC through the PCR system 1, determine whether the repeat number is in a normal range or a mutation range, and screen whether subjects carry GGC pathogenic mutation; and whether amplification exists can be judged through the trapezoidal peak of a PCR system 2, so that missed detection can be avoided. The method can be applied to neuronal intranuclear inclusion diseases and the gene detection in some dementia patients. The kit has the characteristics of being fast, accurate and high insensitivity, and can prevent missed detection.
Owner:杭州方夏生物科技有限公司 +1
Primer sequence and kit for detecting glucose-6-phosphate dehydrogenase (G6PD) gene mutation
ActiveCN111118141AHigh sensitivityStrong specificityMicrobiological testing/measurementAgainst vector-borne diseasesPrenatal diagnosisGenotype
The invention discloses a primer sequence and kit for detecting pathogenic mutation related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. The kit comprises five pairs of amplification primers, 16 single-base extension primers and a special reagent for pretreatment and detection, wherein the amplification primers can specifically amplify 16 common mutation site regions of G6PD genes related to G6PD deficiency; and the 16 single-base extension primers are used for detecting genotypes of 16 mutation sites of the G6PD genes. By the kit, one-hole detection of 16 common mutations related to clinical G6PD deficiency pathopoiesis can be realized; and the kit is high in sensitivity, specificity and accuracy, simple and convenient to operate, low in cost, high in throughput, quick in detection, automatic in result interpretation and easy for clinical popularization and application. The primer sequence and kit can be applied to prenatal diagnosis or neonatal hereditary disease screeningdetection, and a reliable detection reagent is provided for quick detection of G6PD deficiency carriers or patients.
Owner:ZHEJIANG DIGENA DIAGNOSTIC TECH CO LTD
Transgenic mouse expressing arctic mutation E693G
InactiveUS7709695B1Rapid and cost-efficient screeningShorten the timeFermentationAnimals/human peptidesA-DNATransgene
A transgenic non-human animal expressing at least one transgene including a DNA sequence encoding a heterologous Amyloid Precursor Protein (APP) including at least the Arctic mutation (E693G) and a further AD (Alzheimer's disease) pathogenic mutation or a further transgene affecting AD pathogenesis, which results in increased amounts of intracellular soluble A aggregates, including A peptides. The method of producing the transgenic animal, and methods of screening for therapeutic or diagnostic agents useful in treatment or diagnosis of Alzheimer's disease are also disclosed.
Owner:BIOARCTIC NEUROSCI AB
Deafness-related gene capture kit and application thereof
ActiveCN111378736AHigh detection specificityImprove throughputMicrobiological testing/measurementDNA/RNA fragmentationDiseaseNucleotide
The invention discloses a deafness-related gene capture kit and an application thereof. The invention provides a capture probe. The capture probe is as shown in 1) or 2) which are described in the specification, wherein 1) the capture probe is composed of probes as shown in sequences 1 to 113 in a sequence table; 2) the capture probe is composed of derivatives of probes in 1); and the derivative of each probe is a probe which is obtained by substituting and / or deleting and / or adding one or more nucleotides to each probe in 1) and has the same function. According to the deafness-related gene capture kit provided by the invention, target region sequencing analysis is carried out on a whole exon group or a deafness-related genome (respectively accounting for 1% and 0.01% of the whole genome)of a hereditary deafness patient; and most pathogenic mutation information of the disease is captured.
Owner:迈基诺(重庆)基因科技有限责任公司
Mutant gene for breast cancer auxiliary diagnosis and application of mutant gene
ActiveCN104962613AIncreased sensitivityImprove featuresMicrobiological testing/measurementFermentationBrca1 geneGene engineering
The invention belongs to the fields of gene engineering and tumor medical science, and discloses a mutant gene for breast cancer auxiliary diagnosis and application of the mutant gene. The mutant gene has one or more mutant sites: a mutant site A which has g.41215910delA, g.41244291delT, g.41223130A>T and g.41256139T>A, and other mutation sites which have g.32912699A>G, g.32912799T>C, g.32929399dupT, g.32911757C>T, g.32911659-32911662delAAAA and g.32910963T>G compared with a normal BRCA2 gene sequence. The invention provides a breast cancer pathogenic mutation site combination, and the mutation site combination can be used for early diagnosis of the breast cancer.
Owner:NANJING MEDICAL UNIV
Breast cancer-related gene BRCA2 locus g.32336265G>T mutant and applications thereof
ActiveCN111304332AEnriched spectrum of disease-causing mutationsMicrobiological testing/measurementDNA/RNA fragmentationHigh risk populationsOncology
The invention discloses a breast cancer-related gene BRCA2 locus g.32336265G>T mutant and a specific primer for detecting the mutant. Thus, the diagnosis of breast cancer can be implemented more conveniently and easily, and clinicians can conveniently, timely and precisely know the conditions of patients; the mutant and the specific primer can be taken as the evaluation criteria of clinical treatment effects; theoretical support can be provided for the discovery of novel small molecule drug targets having potential treatment values; the pathogenic mutation spectrum of a BRCA2 gene can be enriched; and therefore, the mutant and the specific primer have important significance on carrying out the molecular diagnosis of hereditary breast cancer and the screening of high-risk population.
Owner:WUXI NO 5 PEOPLES HOSPITAL
DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders and application thereof
PendingCN112813156AAccurate detectionAids in Clinical Genetic CounselingMicrobiological testing/measurementLibrary creationBone densityA-DNA
The invention relates to a DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders through a targeted high-throughput sequencing technology and application thereof. The library comprises 507 pathogenic genes of skeletal development disorders. According to the invention, 507 pathogenic genes of skeletal development disorders are preferably selected, a probe pool is designed, a target region library for 507 pathogenic genes of skeletal development disorders is established, and the library utilizes the high-throughput sequencing technology for sequencing to find pathogenic mutations, thereby providing genetic and molecular biological bases for clinical diagnosis. The DNA library provided by the invention has the characteristics of accuracy, rapidness, flexibility and low cost. The 507 genes involved in the invention include pathogenic genes of genetic diseases with skeletal development disorders as clinical manifestations, such as collagen dysplasia, metaphysic dysplasia, osteogenesis imperfecta and bone density reduction, mucopolysaccharide storage disease, cartilage dysplasia and the like, and have important significance and clinical value for diagnosis, differential diagnosis and accurate treatment of skeletal development disorders.
Owner:SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG FIRST MEDICAL UNIVERSITY
Who we serve
- R&D Engineer
- R&D Manager
- IP Professional
Why Patsnap Eureka
- Industry Leading Data Capabilities
- Powerful AI technology
- Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.
© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com