105 results about "Genetics disease" patented technology

The invention provides a method useful for detection of genetic disorders. The method comprises determining the sequence of alleles of a locus of interest, and quantitating a ratio for the alleles at the locus of interest, wherein the ratio indicates the presence or absence of a chromosomal abnormality. The present invention also provides a non-invasive method for the detection of chromosomal abnormalities in a fetus. The invention is especially useful as a non-invasive method for determining the sequence of fetal DNA. The invention further provides methods of isolation of free DNA from a sample.

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.

The present invention provides methods and kits for amplifying target nucleic acids (including whole genomes) using nicking agents. In certain aspects, the amplification does not require the use of any external oligonucleotide primers that are capable of annealing to a portion of the target nucleic acid. This invention is useful in many areas such as genetic disease diagnoses, forensic analyses and palcoarcheological studies.

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 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.

The invention provides an intelligent disease diagnosis method and device, a computer device and a readable medium, and relates to the technical field of big data. The method includes: acquiring the disease-related information of a patient, wherein the disease-related information includes the current disease information, medical history information, and / or family genetic disease information; and obtaining a diagnostic report based on the acquired disease-related information and a pre-established medical knowledge map. The method of the present invention can automatically diagnose the disease,avoids the influence of abnormal factors of manual diagnosis, such as limited professional proficiency, increased workload, and doctors' emotions, on diagnosis results, can diagnose the disease even if the doctor is absent, can further reduce the probability of misdiagnosis and improve the accuracy of diagnosis on the basis of improving the efficiency of diagnosis.

The invention relates to a simple and effective method of automatically extracting immune cells in APB (Adult Peripheral Blood), in particular to a method of using an AXP full-automatic cell separation equipment to extract the immune cells in the APV, a supporting freezing-thawing method, and an immune cell expansion method after the thawing. The method comprises the steps of whole blood sample preprocessing, automatically separating, mononuclear cell collection and at least one of the following items of detecting the immune cells: total mononuclear cells, mononuclear cell viability, cell contamination, genetic disease, HLA-ABC / DR matching. According to the method provided by the invention, the immune cells can be effectively obtained by using the specific operating steps, such as extraction, freezing, thawing and amplification, and the immune cells can be used for treating tumors.

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.

The invention discloses a design way of primers for in-vitro qualitative detection of newborn inherited metabolic disease genes. The design way comprises the following steps: (1) acquiring relevant disease-causing gene information of inherited diseases: acquiring the relevant disease-causing gene information, including gene location information and mutation site information of a plurality of inherited diseases through an OMIM (Online Mendelian Inheritance in Man) database, and acquiring exon and intron information of relevant genes from an NCBI (National Center for Biotechnology Information) database according to the obtained gene information; (2) designing primers specific to the relevant genes: designing corresponding specific primers F1 and R1 specific to an exon and an exon-intron combination area of each gene. The invention also discloses the first-round PCR (Polymerase Chain Reaction) primer sequence list of syndromic deafness, a first-round PCR primer list of G6PD genes, and a first-round PCR primer sequence list of SLC12A3 genes. The primers can be used for detecting relevant genes of 22 types of common newborn inherited 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 includes a rapid, selective, and accurate method of diagnosing a human subject with a triplet repeat genetic disorder of the FMR1 gene that leads to fragile X syndrome. The present invention also includes a rapid, selective, and accurate method of diagnosing a human subject at risk for developing a triplet repeat genetic disorder of the FMR1 gene that leads to fragile X syndrome, or at risk of passing such a disorder on to their progeny.

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.

The present invention relates to compositions which may comprise a non-naturally occurring or engineered artificial transcription factor, wherein the transcription factor may comprise a sequence specific DNA binding domain, a sliding domain, and one or more linkers, wherein the DNA binding domain and the sliding domain are operably connected by the one or more linkers, and uses thereof. Methods involving the use of a non-naturally occurring or engineered artificial transcription factors and pharmaceutical compositions, methods for treating cancer, a degenerative disease, a genetic disease or an infectious disease as well as diagnostic methods are also contemplated by the present invention.

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.

An object of the present invention is to provide compounds having read-through activity for use in treatment methods of genetic diseases caused by nonsense mutation, to provide pharmaceutical compositions comprising the compound, and to provide a treatment method of genetic diseases caused by nonsense mutation comprising administering the compound.The present invention can provide a method of producing wild type normal protein in a living body of a mammal from a gene with a premature termination codon being generated by a mutation, wherein the method comprises administering a compound expressed by the following formula (VI):(wherein R1, R2, R3, R4, R5 and X1 in the formula are as defined in description) or the like to the mammal.

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 relates to a DNA library capable of diagnosing nystagmus infective genes through a targeted high-flux sequencing technique and an application of the DNA library. The library comprises 674 nystagmus infective genes. According to the DNA library disclosed by the invention, 674 nystagmus infective genes are preferably selected, a probe pond is designed, a target area library in accordance with 674 nystagmus infective genes is established, a high-flux sequencing technique is used by the library for sequencing, infective mutation is sought, and genetics and molecular biology basises are provided for clinical diagnosis. The DNA library disclosed by the invention has the characteristics of being accurate, quick, flexible and low in cost. The 674 gene related in the DNA library disclosed by the invention comprise infective genes of heredity diseases which nearly use nystagmus as clinical manifestation, including X-linked congenital nystagmus, oculocutaneous albinism, ataxia diseases, congenital amaurosis and cataract, and have important significance and clinical value on diagnosis, identification and diagnosis as well as pinpoint treatment of the nystagmus.

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 a method for simultaneously completing gene loci, chromosomes and linkage analysis, specifically including the acquisition of embryonic cell samples, whole genome amplification, target gene mutation site amplification, whole genome amplification products and target gene mutation sites The main steps of database construction, high-throughput sequencing and data analysis, through the use of whole genome amplification technology combined with high-throughput sequencing, multiple comprehensive tests can be completed in one step, avoiding the use of multiple methods and steps for single-gene genetic diseases Detection of mutation sites, chromosomal disorders and linkage analysis. The method provided by the present invention provides favorable conditions for micro-sample, not only can be used for PGD detection to determine whether the embryo carries a disease-causing gene and abnormal chromosome copy number; it is also suitable for genetic screening of embryos of recurrent miscarriages and elderly women, realizing a Steps to complete multiple detections of a single sample. Because of its simple operation, short period and strong feasibility, it is beneficial to popularization and application.

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.

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 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.