100 results about "Genetics disease" patented technology

The invention belongs to the technical field of gene diagnosis, and provides a method for noninvasive prenatal disgnosis of a congenital deafness genetic disease through the technology taking gene chips as a platform. Each microarray gene chip comprises a chip base and probes fixed on the chip base, and the probes have the nucleotide sequences which are as shown in the table 1-2. The diagnosis method comprises the steps as follows: preparation of to-be-tested DNA, multiple PCR amplification, chip hybridization, data processing and image analysis, chip scanning and result obtaining. At the same time, the invention comprises a kit for the noninvasive prenatal disgnosis of the congenital deafness genetic disease, and the kit comprises the microarray gene chips; the method for noninvasive prenatal disgnosis of the congenital deafness genetic disease is simple and convenient; detection has the characteristics of high throughput, good specificity and high sensitivity, the situation that whether each locus belongs to the wild type or the mutant type can be quickly screened, and the diagnosis of the congenital deafness genetic disease can be improved to the gene level; since the noninvasive prenatal disgnosis technology is adopted, the cost is reduced, the time is saved, and the pain of patients is further reduced.

A new class of pseudo-trisaccharide aminoglycosides having an alkyl group at the 5″ position, exhibiting efficient stop codon mutation readthrough activity, low cytotoxicity and high selectivity towards eukaryotic translation systems are provided. Also provided are pharmaceutical compositions containing the same, and uses thereof in the treatment of genetic disorders, as well as processes of preparing these aminoglycosides. The disclosed aminoglycosides can be represented by the general formula I:

or a pharmaceutically acceptable salt thereof, wherein R₁ is selected from the group consisting of alkyl, cycloalkyl and aryl; and all other variables and features are as described in the specification.

The invention relates to a method for detecting a genetic disease gene and particularly discloses a method for detecting a spinal muscular atrophy virulence gene. The method comprises the following steps: 1, performing enrichment processing on SMN1 and SMN2; 2, preparing a nanopore sequencing library for sequencing; 3, sequencing by a sequenator; and 4, performing clinical report evaluation on the obtained sequence file. The method is convenient to use, low in cost and can effectively and accurately detect the copy number of the spinal muscular atrophy virulence gene, the small segment insertion and deletion, the point mutation, the noncoding region mutation and even the gene translocation, and brings help and breakthrough for the clinical diagnosis and scientific research on the spinal muscular atrophy.

A method of producing a homogenous population of homozygous stem (HS) cells pre-selected for immunotype and/or genotype from donor cells is described herein. The invention relates to methods of using immunohistocompatible HS cells for diagnosis, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, traumatic injuries and cancer. The invention further relates to methods for using histocompatible HS stem cells pre-selected for a non-disease genotype for prophylactic and therapeutic intervention including, but not limited to, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, and cancer. Furthermore, the invention relates to a catalogued transplant depository of HS cells derived from multiple donors, each of the HS cells being homozygous for a unique HLA haplotype, for the purpose of having a constant, reliable, comprehensive supply of immunohistocompatible cells for diagnosis, treatment and/or transplantation.

The invention provides a genetic risk early-warning method for auxiliary reproduction sperm supplying strategy and a system. According to the method and the system, an autosome recessive genetic disease reproduction genetic risk of a to-be-pregnant women is evaluated and predicted, and a sperm donation volunteer who has relatively high gene pairing degree and low genetic disease risk as a to-be-selected object. Quantification and automation for risk evaluation of a reproduction autosome recessive genetic disease are comprehensively realized. The method and the system have advantages of greatlyreducing manpower cost and time cost, realizing high reasonability, and greatly improving analysis accuracy.

The invention provides a chemical heredity epilepsy persistent state disease animal model and a construction method and application thereof. The epilepsy persistent state disease animal model is a mouse brain kernel group (a hippocampus CA1 region and a thalamus anterior nucleus VA region of a model I); injecting a brain stereotaxic virus (a chemical genetic virus rAAV-CaMKIIa-hM3D (Gq)-mCherry-WPREs-pA) in an apricot kernel BLA region and a thalamus anterior nucleus VA region on the outer side of a substrate of the model II, and embedding an electrode array in a mouse hippocampus CA3 region;after the mouse is recovered for one week, a metabolite CNO of clozapine is injected into the abdominal cavity so that the CNO is combined with a virus expression receptor, neurons are activated to induce epileptic persistent state attack, and the epilepsy persistent state disease animal model is obtained through behavioral observation and in-vivo multichannel local field potential recording judgment. The epilepsy persistent state disease animal model constructed by the method is stable in seizure duration, high in success rate, low in death rate and good in repeatability, and has important significance in researching the origin and formation mechanism of epilepsy persistent state, and screening and mechanism of drug-resistant epilepsy persistent state drugs.

The invention relates to the biotechnology field, in particular to a probe set and application thereof. More particularly, the invention relates to one group of probe set, a method for constructing ahigh-throughput sequencing library, a method for determining single nucleotide mutation and haplotype of a sample to be detected, a device for constructing the high-throughput sequencing library and asystem for determining the single nucleotide mutation and the haplotype of the sample to be detected. The probe set can simultaneously detect the gene situations of various single gene inheritance diseases or genetic tumors, has good capture specificity, high sensitivity and wide coverage rate and can effectively realize the detection of 34 types of PGD (Preimplantation Genetic Diagnosis).

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.

The invention discloses a training method and device of a classification deep neural network model and a genetic disease detection method and device. The training method comprises the following steps:constructing a genetic disease data set, wherein the genetic disease data set comprises a genetic disease face data set and a classification label; inputting a training set in the genetic disease data set into a pre-training model of a classification deep neural network to obtain a classification vector, and determining a classification loss cost function value based on the classification vectorand the classification label; and training a pre-training model of the classification deep neural network based on the classification loss cost function value and the training parameters, and stoppingtraining until the classification loss cost function value is smaller than a preset threshold to obtain a trained classification deep neural network model. According to the technical scheme, photos or videos of patients can be automatically detected, doctors are assisted in judging genetic diseases, a large amount of manpower and material resources can be saved, and meanwhile the problems of tension, imbalance and the like of medical resources can be relieved.

The invention provides a probe composition and a kit for screening genetic disease pathogenic gene carriers and a preparation method of the probe composition and the kit. The probe composition specifically captures pathogenic genes of genetic diseases, and the genetic diseases comprise alpha-thalassemia, beta-thalassemia, spinal muscular atrophy, hepatolenticular degeneration and methylmalonic acid cblC type. The invention provides a probe combination which is accurate, reliable, simple and economical, can be used for screening carriers of various genetic disease pathogenic genes at the same time, and is convenient for popularization and clinical application of screening of carriers of common genetic diseases.

The invention belongs to the field of gene mutation detection, and relates to a method for screening pathogenic mutations by using a core family analysis method based on genetic disease high-throughput sequencing data. The invention provides a genetic disease high-throughput sequencing pathogenic mutation screening method based on a core family, which comprises the following steps: obtaining a genome sample to be detected, the genome sample originating from filial generation and parents thereof; determining a DNA sequence of a genome sample to be detected by using a high-throughput method, andcomparing and annotating a sequencing result with a human reference genome to form an annotation file; analyzing and screening the annotation files by using a dichotomy, removing high-frequency mutation, and classifying the detected gene mutation; removing non-pathogenic mutations from the classification and annotation of the detected gene mutations. The method provided by the invention can become an effective tool for high-throughput sequencing analysis of genetic diseases, can quickly and accurately find out pathogenic sites, and realizes standardization, process and semi-automation of analysis.