74 results about "Hereditary Diseases" patented technology

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

The invention provides calcium bucladesine sterile powder and a preparation thereof. The calcium bucladesine sterile powder is characterized in that the calcium bucladesine sterile powder is in an amorphous form state and has the purity of over 98 percent. Furthermore, the invention also provides amorphous calcium bucladesine sterile powder and a preparation method of a calcium bucladesine sterile powder preparation. The preparation method comprises the following steps: purifying chemically synthetic a crude calcium bucladesine solution through preparative high pressure liquid chromatography, concentrating, filtering, and performing freeze drying, thereby obtaining the sterile powder, wherein the X-ray powder diffraction and infrared absorption spectrum prove that the sterile powder refers to the amorphous calcium bucladesine sterile powder. Compared with a commercially available mixed crystal form calcium bucladesine powder-injection preparation, the amorphous calcium bucladesine sterile powder is high in content and high in stability. The amorphous calcium bucladesine sterile powder and the preparation thereof provided by the invention are used for treating angor pectoris, myocardial infarction, myocarditis, cardiogenic shock, immune genetic diseases such as lupus erythematosus and parapsoriasis guttata as well as other cardiovascular diseases.

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.

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.

The present invention provides an artificial exosome, which comprises: an outer lipid shell composed of a modified or unmodified artificial lipid membrane and a polymer core composed of DOTAP-modifiedPLGA nanospheres, and the invention also provides a preparation method and an application thereof. The artificial exosome of the present invention is suitable for achieving simultaneous delivery of multiple components, which provides a theoretical basis for the development of novel drug delivery systems. The method of the invention has broad application prospects in cancer, hereditary diseases and infectious diseases.

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.