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75 results about "Hereditary Diseases" patented technology
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Diseases caused by genetic mutations that are inherited from a parent's genome.
Sequence-based karyotyping
InactiveUS20050221341A1Great alterationUseful in detectionMicrobiological testing/measurementBiostatisticsGenomic mutationKaryotype
A new method for genomic analysis, termed “Sequence-Based Karyotyping,” is described. Sequence-Based Karyotyping methods for the detection of genomic abnormalities, for diagnosis of hereditary disease, or for diagnosis of spontaneous genomic mutations are also described.
Owner:454 CORP
Nucleic acid cross flow test strip-based method for detecting single nucleotide polymorphism
ActiveCN102134596AThe result is accurateMeet the requirements of clinical testingMicrobiological testing/measurementGene typeBuffer solution
The invention relates to a nucleic acid cross flow test strip-based method for detecting single nucleotide polymorphism, comprising the following steps: firstly, preparing the nucleic acid cross flow test strip; secondly, obtaining a sample to be tested, denaturing and annealing; obtaining water, a nano-gold probe solutions, a connecting probe, Taq DNA ligase buffer solutions and Taq DNA ligase, and blending uniformly to obtain a mixed solution; adding KIF-1 and KIF-2 or the mixed solution of the two to the mixed solution, and blending uniformly; adding the sample to be tested, carrying out hybrid connection, denaturing, and annealing; and finally dropping obtained solutions on the binding area of the nucleic acid cross flow test strip, immersing the immersion area of the test strip into the running buffer solutions, and observing. The method achieves easy operation and low cost, is characterized by specificity, fastness as well as high resolution and sensitivity, and can be applied to the detection on the single nucleotide polymorphism and gene type as well as the identification on different pathogenic microorganisms of genes in hereditary diseases, communicable diseases, tumour and angiocardiopathy in clinical medicines.
Owner:SHANGHAI INST OF MICROSYSTEM & INFORMATION TECH CHINESE ACAD OF SCI
Method for detecting embryo chromosome abnormalities by using blastula-stage embryo cells
InactiveCN104711362AAvoid harmA large amountMicrobiological testing/measurementHigh cellCell separation
The invention discloses a method for performing genome amplification by using embryo blastula-stage cells, performing chromosome detection on the preimplantational embryo by combining a high-flux sequencing technique and screening out the chromosome normal embryo. The method can comprehensively and completely analyze the genetic variation information of the embryo genome, thereby instructing the preimplantational embryo selection, reducing the hereditary diseases and enhancing the success rate of test tube babies. The method comprises the following steps: blastula-stage trophocyte separation; genome amplification; DNA (deoxyribonucleic acid) segmentation; and Proton library establishment, mounting sequencing and sequencing data analysis. By using the blastula-stage embryo to perform trophocyte separation detection, the method avoids the injuries of cleavage-stage cell separation to the embryo, obtains higher cell quantity than the cleavage stage, and enhances the success rate and amplification effect of genome amplification. After the blastula-stage embryos are subjected to the natural elimination process, the high-quality blastula-stage embryo is selected for detection, thereby saving the cost.
Owner:SUZHOU BASECARE MEDICAL DEVICE CO LTD
Gene chip for screening various ophthalmological hereditary diseases as well as preparation and usage method of gene chip
InactiveCN102978284AImprove efficiencyAccurate diagnosisNucleotide librariesMicrobiological testing/measurementVirulent characteristicsIntein
The invention relates to the technical field of biological gene chips, and particularly relates to a gene chip for screening various ophthalmological hereditary diseases as well as preparation and a usage method of the gene chip. Specific oligonucleotide probes of gene sequences which are related to 261 ophthalmological hereditary diseases are fixed on the surface of a carrier of the gene chip for screening various ophthalmological hereditary diseases; and the gene chip which is related to the 261 ophthalmological hereditary diseases comprises the sequences of all coding region sequences of 954 related virulence genes or disease predisposing genes and introne sequences adjacent to the coding regions. As the specific oligonucleotide probes of the gene sequences which are related to 261 ophthalmological hereditary diseases and the sequences of all the coding region sequences of the related virulence genes or disease predisposing genes and the introne sequences adjacent to the coding regions are fixed on the surface of the carrier of the gene chip, the gene chip provided by the invention is capable of screening a plurality of ophthalmological hereditary diseases at the same time and then the efficiency is greatly improved.
Owner:金子兵
Human X-chromosome composite amplification system composed of 20 short serially-connected repetitive sequences and applications thereof
ActiveCN105177125AHigh polymorphic informationHigh individual recognition rateMicrobiological testing/measurementRepetitive SequencesX chromosome
The invention relates to the technical field of biology, and relates to a human X-chromosome composite amplification system composed of 20 short serially-connected repetitive sequences and applications thereof. The composite amplification system comprises 20 pairs of primers and is capable of amplifying 19 STR sites: DXS6795, DXS6803, DXS6807, DXS9907, DXS7423, GATA172D05, DXS101, DXS9902, DXS7133, DXS9810, GATA31E08, DXS6800, DXS981, DXS10162, DXS6809, GATA165B12, DXS10079, DXS10135, and HPRTB, and one sex recognition site: Amelogenin. Five-color fluorescence labeling is adopted by the system, the size of amplification products is in a range of 85 to 450 bp, the operation is simple, and the individual recognition performance is high. The sites provided by the provided composite amplification system are highly compatible to the conventional commonly-used X-STR kits, moreover, sites with high polymorphism information are provided, and the provided composite amplification system can be applied to paternity identification related with X-chromosome, individual recognition, and auxiliary detection of X-chromosome sex-linked hereditary diseases.
Owner:SUZHOU MICROREAD GENETICS
Drug activity prediction method based on machine learning
ActiveCN105740626AImprove the efficiency of research and developmentLow costBiostatisticsProteomicsMedicineScreening method
The invention discloses a drug activity prediction method based on machine learning. The method comprises following steps of (1), obtaining drug targets corresponding to sample drugs; (2), obtaining related gene information corresponding to hereditary diseases; (3), screening out target genes associated with the hereditary diseases from the drug targets obtained in the step (1); (4), obtaining characteristic attribute of each sample drug, wherein the characteristic attribute is a relationship of the drug target corresponding to the sample drug and the target gene associated with the hereditary disease; building a model by taking the characteristic attribute of each sample drug as an input vector and taking the activity of the sample drug as output; (5), obtaining the characteristic attribute of a to-be-tested drug, substituting into the model in the step (4), thus predicting the activity of the to-be-tested drug. The drug screening method provided by the invention is low in cost and high in efficiency. The method has wide application prospects in fields such as repositioning, structure optimization and design of the drugs.
Owner:HUAZHONG AGRI UNIV
Analysis detection system for screening single gene hereditary disease pathogenic gene based on patient clinical symptom data and whole exome sequencing data
The invention relates to an automated analysis system for automatically screening the single gene disease and hereditary disease pathogenic gene based on patient clinical phenotype information and whole exome sequencing data. The system comprises four automatic analysis modules: (1) an automatic transferring subsystem for automatic transferring from patient clinical report to standardized phenotype term (HPO, human phenotype ontology); (2) an automatic analysis system for screening disease pathogenic gene based on patient standardized phenotype; (3) an automatic analysis system for screening disease pathogenic gene based on patient whole exome sequencing data; and (4) a p value integration system. The system adopts a possibility model to calculate the possibility of developing a certain single gene hereditary disease under the situation that a certain standard phenotype of the patient is provided, and utilizes a computer statistic check method to systematically evaluate the significance level of developing a certain single gene hereditary disease after all standard phenotype of the patient are provided, so as to accordingly achieve the purpose of screening candidate disease pathogenic gene based on clinical standard phenotype.
Owner:上海睿视健康科技有限公司
Method for detecting nucleic acids by simultaneous isothermal amplification of nucleic acids and signal probe
The present invention relates to a method for detecting target nucleic acids by simultaneous isothermal amplification of the target nucleic acids and a signal probe 5 using an external primer set, a DNA-RNA-DNA hybrid primer set and a DNA-RNA-DNA hybrid signal probe. The method according to the present invention can be used to amplify target nucleic acids in a sample, rapid and exact manner without the risk of contamination compared to the conventional methods such as PCR, and it can simultaneously amplify target nucleic acid and a signal probe, so that it can 0 be applied to various genome projects, detection and identification of a pathogen, detection of gene modification producing a predetermined phenotype, detection of hereditary diseases or determination of sensibility to diseases, and estimation of gene expression. Thus, it is useful for molecular biological studies and disease diagnosis.
Owner:GREEN CROSS MEDICAL SCI CORP
Isolated nucleic acid molecule encoding human skeletal muscle-specific ubiquitin-conjugating enzyme
InactiveUS6166190AExpressed readily and stablyPromote resultsSugar derivativesHydrolasesNucleotideGenetic engineering
An isolated nucleic acid molecule encoding human skeletal muscle-specific ubiquitin-conjugating enzyme and comprising a nucleotide sequence coding for the amino acid sequence shown in SEQ ID NO:22 is disclosed. The isolation of this molecule makes it possible to detect its expression in various tissues, analyze its structure and function, and produce the human proteins encoded by this molecule by the technology of genetic engineering. In this way, it is possible to analyze the corresponding expression products, elucidate the pathology of diseases associated with the molecule, for example hereditary diseases and cancer, and diagnose and treat such diseases.
Owner:OTSUKA PHARM CO LTD
Method for testing DNA mononucleotide pleomorphism
InactiveCN101220395AEasy to handleEasy to separateMicrobiological testing/measurementFluorescencePolymer
The invention discloses a detection method of DNA single nucleotide polymorphism. The method which is provided by the invention uses a fluorescent substance for marking the DNA of a sample to be detected, and the nucleotide of the polymorphism site of the target single nucleotide of the DNA to be detected is determined by the fluorescence resonance energy transfer situation of the fluorescent substance and a water-soluble conjugated polymer. The invention has simple and convenient processing, which omits various separation and purification steps; the nucleotide of the polymorphism site of the single nucleotide can be detected by a small amount of DNA, thus the invention has great significance for the development of drugs and the clinical diagnosis of hereditary diseases.
Owner:INST OF CHEM CHINESE ACAD OF SCI
RNA probe capable of detecting multiple neonatal hereditary diseases and gene screening kit
InactiveCN104673925AAchieve early diagnosisAchieve therapeutic effectMicrobiological testing/measurementDNA/RNA fragmentationExonBiology
The invention provides a RNA probe capable of simultaneously detecting multiple neonatal hereditary diseases and a qualitative detection method in vitro of multiple neonatal genetic metabolic diseases, and the detection method provided by the invention is used for reducing the detection cost. Specifically, the invention discloses a RNA probe capable of simultaneously detecting multiple neonatal hereditary diseases, and the design method of the RNA probe comprises the following steps: 1) obtaining exon regions of genes corresponding to the neonatal genetic metabolic diseases; 2) regulating an oligonucleotide design principle. 1760 oligonucleotide sequences of the RNA probe provided by the invention are specifically as shown in table 1. The invention further provides a kit containing the RNA probe, and the kit can be used for simultaneously detecting multiple neonatal hereditary diseases.
Owner:绍兴锐创生物科技有限公司
Familial specific genetic disease correlated allele haplotype variation tag confirmation method
InactiveCN104862380AConfirm reliabilityReduce testing costsMicrobiological testing/measurementTypingGenomic DNA
The present invention provides a method for identifying the haplotype variation tags of the family-specific hereditary disease related alleles, comprising extracting the genomic DNA of at least five members selected from a family with Mendelian hereditary disease, obtaining the information of the disease-related target genes, amplifying and sequencing the DNA fragments of the target gene regions in each genomic DNA, selecting all the variation loci existing in the target gene regions in each genomic DNA respectively, obtaining the genotype of each variation locus in each genomic DNA, and genetically analyzing the typing results of the variation loci in each genomic DNA together with the disease traits, thereby identifying the haplotype variation tags of the disease-related alleles.
Owner:苏州鑫卓信生物科技有限公司
Method and device and terminal equipment for detecting genetic variation of hereditary disease
InactiveCN109295198AAccurate judgmentImprove accuracyMicrobiological testing/measurementRe sequencingMutation detection
The invention is applicable to the technical field of genetic variation detection, the invention provides a method and a device and terminal equipment for detecting genetic variation of a hereditary disease; the method comprises the following steps: acquiring gene sequencing data of a hereditary disease sample; carrying out re-sequencing data analysis on the gene sequencing data, and detecting mutation sites in the gene sequencing data; performing mutation annotation on the mutation sites according to a preset disease database to obtain annotation results of the mutation sites; and determininga mutation detection result of the mutation sites according to the annotation results of the mutation sites. The method disclosed by the invention can be used for accurately judging hereditary disease-related genes, false positive sites and false negative sites are reduced, and the accuracy of gene variation detection is improved.
Owner:AEGICARE (SHENZHEN) TECH CO LTD
Method and system for obtaining polygene risk score based on deep learning model
The embodiment of the invention discloses a method and a system for obtaining a polygene risk score based on a deep learning model. The method comprises the following steps: preprocessing original SNPsample data; creating deep learning models of the relationship between SNP data and disease risk scores, wherein the deep learning models at least comprise a deep neural network model, a convolutional neural network model and a residual neural network model; optimizing the deep learning model; and scoring the SNP data to be scored based on the optimized deep learning model. According to the method, the corresponding deep learning model is trained by using a large number of SNP loci, so that the complex nonlinear relationship between the SNP loci and the hereditary diseases is fitted so as toconveniently, objectively and accurately provide the PRS score for a user.
Owner:DALIAN MARITIME UNIVERSITY
OSBPL2 mutant gene as well as identification method and detection kit thereof
InactiveCN103757028ASimple methodLow costMicrobiological testing/measurementFermentationHuman DNA sequencingNucleotide
The invention discloses an OSBPL2 mutant gene as well as an identification method and a detection kit thereof. The OSBPL2 mutant gene has the deletion of nucleotide C and T between 152-bit nucleotide C and 155-bit nucleotide C in an exon 3 region of a human OSBPL2 gene sequence, and / or 583-bit nucleotide C in an exon 7 region of the human OSBPL2 gene sequence, is mutated to nucleotide A. By adopting the OSBPL2 mutant gene as well as the identification method and the detection kit thereof, a pathogenic gene of a hereditary disease is discovered by utilizing a human genome exon trapping technology; the identification method is simple and convenient; in addition, as only one or a small quantity of gene mutation sample is needed to trap a human genome exon sequence, the cost is greatly lowered; gene identification has an important value to genetic diagnosis of NSHL (Non-Syndromic Hearing Loss) susceptible and occurrence populations and has an important significance of exploring NSHL pathogenesis and opening up a novel therapy approach.
Owner:NANJING MEDICAL UNIV +2
Artificial compound feed for marmosets
InactiveCN106260534APromote absorptionEfficient use ofAnimal feeding stuffAnimal scienceTreatment effect
The invention relates to an artificial compound feed for marmosets. The artificial compound feed is prepared from 30-40 parts of flour, 5-10 parts of soybean flour, 5-10 parts of oat flour, 5-10 parts of maize flour, 0.4-0.6 part of sunflower seed, 2-3 parts of traditional Chinese medicine composition, 20-30 parts of formula rice flour, 10-12 parts of formula trace element powder, 10-15 parts of formula milk powder and 0.5-1 part of compound probiotic preparation. The artificial compound feed is good in palatability, comprehensive nutrient elements can be provided on the premise that basic nutritional requirements of the marmosets are met, the specific traditional Chinese medicine ingredients of the artificial compound feed can fully improve the physique of the marmosets, improve the gastrointestinal tract digestion function of the marmosets and improve the immunity of the marmosets, and a certain prevention and treatment effect is played on the emaciation syndromes, bone deformity and other hereditary diseases of the marmosets.
Owner:BEIJING SUN RISING TECH
Gene editing composition or kit for in vivo gene therapy
The present invention provides gene editing compositions or kits for in vivo gene therapy. A gene editing composition or kit provided in the invention comprises 1) an sgRNA linked to a nucleic acid molecule of a binding protein targeting a mutant gene or a coding sequence thereof, 2) a template nucleic acid or code sequence thereof for repairing a mutant gene of inter, 3) a nuclease guided by sgRNA or coding sequence thereof, and 4) a protein fused with a nucleic acid bin protein capable of promoting homologous recombination or coding sequence thereof, wherein that nucleic acid binding proteinis capable of binding to the nucleic acid molecule in the above 1). The invention also relates to the use of sgRNA, compositions or kits for the treatment of diseases caused by gene mutations, such as hereditary diseases. The sgRNA, composition or kit of the invention can effectively improve the efficiency of homologous recombination repair, and can also realize homologous recombination repair innon-dividing cells.
Owner:合肥星眸生物科技有限公司
Method for isothermal amplification of nucleic acids and method for detecting nucleic acids using simultaneous isothermal amplification of nucleic acids
InactiveCN101283107AFast and Accurate AmplificationMicrobiological testing/measurementHybridization probeNucleic acid detection
The present invention relates to a method for isothermal amplification of nucleic acids and a method for detecting nucleic acids, which comprises characterized in simultaneous isothermal amplification of nucleic acids and a signal probe to a method for isothermal amplification of target nucleic acids using an external primer set and RNA / DNA hybrid primer set, and a method for detecting amplification products by amplifying nucleic acids and a signal probe simultaneously using an external primer set, RNA-DNA hybrid primer set and DNA-RNA-DNA hybrid probe. The method according to the present invention is convenient compared with the conventional method, it is possible to amplify the target nucleic acids rapidly and exactly without a risk of contamination, and it can simultaneously amplify a signal probe, so that it can be applied to various genome project, such as detection and identification of a pathogen, detection of gene modification causing predetermined phenotype, detection of hereditary diseases or determination of sensibility to diseases, estimation of gene expression and apply to genome project, thus being useful for molecular biological studies and disease diagnosis.
Owner:RAPLEGENE INC
Method for isothermal amplification of nucleic acids and method for detecting nucleic acids using simultaneous isothermal amplification of nucleic acids and signal probe
InactiveUS20090130677A1Microbiological testing/measurementFermentationNucleic acid detectionBiological studies
The present invention relates to a method for isothermal amplification of nucleic acids and a method for detecting nucleic acids, which comprises characterized in simultaneous isothermal amplification of nucleic acids and a signal probe to a method for isothermal amplification of target nucleic acids using an external primer set and RNA / DNA hybrid primer set, and a method for detecting amplification products by amplifying nucleic acids and a signal probe simultaneously using an external primer set, RNA-DNA hybrid primer set and DNA-RNA-DNA hybrid probe. The method according to the present invention is convenient compared with the conventional method, it is possible to amplify the target nucleic acids rapidly and exactly without a risk of contamination, and it can simultaneously amplify a signal probe, so that it can be applied to various genome project, such as detection and identification of a pathogen, detection of gene modification causing predetermined phenotype, detection of hereditary diseases or determination of sensibility to diseases, estimation of gene expression and apply to genome project, thus being useful for molecular biological studies and disease diagnosis.
Owner:GREEN CROSS MEDICAL SCI CORP
Substituted oxazole derivatives and their use as tyrosine kinase inhibitors
The present invention relates to novel compounds selected from substituted oxazole derivatives that selectively modulate, regulate, and / or inhibit signal transduction mediated by certain native and / or mutant tyrosine kinases implicated in a variety of human and animal diseases such as cell proliferative, metabolic, allergic, and degenerative disorders. More particularly, these compounds are potent and selective c-kit, bcr-abl and Flt-3 inhibitors.
Owner:AB SCIENCE +2
Probe composition based on exon capture for constructing hereditary disease gene library and kit and application
InactiveCN108950691ALow costReduce missed diagnosisLibrary creationDNA/RNA fragmentationInteinGenomic DNA
The invention relates to a probe composition based on exon capture for constructing a hereditary disease gene library, a kit and application. The research finds that by directly designing a capture probe for an exon or an mRNA (Messenger Ribonucleic Acid), only a part of exon gene fragments can be captured in most cases, and certain exon gene fragments are omitted, and thus, the constructed library is not perfect. Therefore, a genomic DNA (deoxyribonucleic acid) is selected as a template of the probe composition based on the exon capture for constructing the hereditary disease gene library; intron subsequences are creatively classified; a part of capture probes are designed in an intron conserved region close to exons; the probe composition contains intron regions more than exon capture regions of the commercially available kit; multiple capture probes are set for the conserved region of specific genes; the success rate of the target region capture and the coverage uniformity are ensured by adjusting the density of the probes so as to ensure that gene data contained in the library can truly reflect various mutation types at the exon level.
Owner:GUANGZHOU JIAJIAN MEDICAL TESTING CO LTD
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
Amorphous calcium bucladesine sterile powder
InactiveCN104262436AHigh purityImprove stabilityOrganic active ingredientsPowder deliveryBucladesineAdenosine
Owner:北京赛盟医药科技发展有限公司 +1
Evaluation method for judging rare hereditary diseases
PendingCN112735599AImprove evaluabilityReduce birthMedical data miningProteomicsDisease phenotypeGenes mutation
The invention discloses an evaluation method for judging rare hereditary diseases, which comprises the steps of deep phenotype analysis, whole exon group sequencing, gene mutation identification and filtration, mutation optimization combined with a genetic pattern and a disease phenotype, whole exon group sequencing and human phenotype ontology. Clinical doctors can be assisted to judge and evaluate pathogenic factors of rare hereditary diseases in time, the evaluable rate of the rare hereditary diseases is increased, a basis is provided for determining appropriate treatment measures and clinical management strategies, genetic counseling and prenatal evaluation are provided for families, birth of similar child patients is reduced, and economic burdens of the families and the society are relieved. Therefore, the method has important significance for judging the hereditary diseases with high phenotypic heterogeneity and low morbidity.
Owner:PEOPLES HOSPITAL OF HENAN PROV
PCR (polymerase chain reaction) detection method for CGG repeat number of FMR1 (fragile X mental retardation 1) gene 5' terminal noncoding region
InactiveCN102242187AAvoid uncertaintyMicrobiological testing/measurementDNA preparationFMRP ProteinCgg repeat
The invention relates to an auxiliary laboratory diagnosis method for some hereditary diseases caused by X chromosome FMR1 (fragile X mental retardation 1) gene abnormity. The method is established aiming to improve the accuracy of clinical diagnosis by using a molecular biological detection method as an auxiliary means for clinical examination, and to provide a new detection means for prenatal screening for related hereditary diseases.
Owner:北京康为世纪生物科技有限公司
Converting diploidy to haploidy for genetic diagnosis
InactiveUS20060166257A1Positively selectableReduce expressionAnimal cellsMicrobiological testing/measurementCancer syndromeMammal
Detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.
Owner:THE JOHN HOPKINS UNIV SCHOOL OF MEDICINE
Gene chip for non-invasive prenatal assessment of hemifacial microsomia, kit and application method of gene chip
ActiveCN109182494AEasy to operateRelieve painMicrobiological testing/measurementPrenatal diagnosisHemifacial microsomia
The invention relates to a gene chip for non-invasive prenatal assessment of hemifacial microsomia, a kit and an application method of the gene chip. The gene chip comprises a chip base on which a probe group is arranged to form a microarray gene chip. The kit includes the gene chip / primer set, enzyme system and the like. The application method of the gene chip comprises the following steps: firstly, preparing a sample containing DNA, then PCR amplification, and then hybridizing with the gene chip. The microarray chip can be used to detect the cf-FDNA is used as a template to carry out multiple PCR amplification, after obtaining PCR amplification product, hybridizing with the chip of the invention, and determining whether the fetus carries genes related to the congenital hemifacial microsomia according to the hybridization result; Very simple, greatly reduce the error rate and time cost, improve the accuracy; It can be used in the prenatal diagnosis of congenital hereditary diseases and has great potential in the field of non-invasive prenatal diagnosis.
Owner:张娇
Artificial exosomes, preparation method and application thereof
Owner:GUANGZHOU MEDICAL UNIV
Oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis
The invention discloses an oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis. By collection of a 4-generation oculocutaneous albinism type 1 family, a transmission manner of 4-generation oculocutaneous albinism type 1 in the family is an autosomal recessive inheritance manner according to judgment; by reading of documents and online databases, possible pathogenic candidate genes are selected, then a propositus and other members in the family are subjected to PCR (polymerase chain reaction) amplification and Sanger sequencing to determine mutant gene loci, and consequently a TYR pathogenic gene (mutant c.107G) which is a novel pathogenic mutation is discovered. Discovery of the novel TYR pathogenic gene mutation locus enriches a pathogenic gene mutation spectrum, and the novel TYR pathogenic gene mutation locus can be used as a prenatal diagnosis screening locus for oculocutaneous albinism type 1 which is a serious recessive hereditary disease to guide prenatal and postnatal care. By providing of the oculocutaneous albinism type 1 related mutated TYR gene, data support is provided for design of prenatal diagnosis chips, and especially,important significance to prenatal gene diagnosis screening of seriously-harmful rare genetic diseases is achieved.
Owner:HARBIN MEDICAL UNIVERSITY
New cystic fibrosis transmembrane conductance regulator inhibitor
The invention relates to amidoimidazole coupled dihydropyridone compounds represented by formula I, and / or medicinal salts thereof, a preparation method of the compounds and / or the medicinal salt a use of the compounds and / or the medicinal salts thereof in the treatment and / or prevention of cystic fibrosis (CF) related hereditary diseases induced by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, and a medicinal composition containing the compounds and / or the medicinal salts thereof. In the formula I, R<1> and R<2> are respectively independently selected from H, cyan groups, trifluoromethyl groups, halogens, (C1-C6) straight chain or branched chain alkyl groups, C3-12 alicyclic groups, phenyl groups, other (C5-C10) aryl groups, (C5-C10) heteroaryl groups or (C3-C7) heterocyclic groups.
Owner:CHENGDU UNIVERSITY OF TECHNOLOGY
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