60 results about "Human genetics" patented technology

Disclosed herein are compositions and methods of modulating the expression of gene or the production of a protein by transfecting target cells with nucleic acids. The compositions disclosed herein demonstrate a high transfection efficacy and are capable of ameliorating diseases associated with protein or enzyme deficiencies.

The present invention is a system and method for utilizing human genetic and genomic information to guide prescription dispensing and improved drug safety in a pharmacy setting. The system and method of the present invention utilizes a dedicated information management system and software to utilize patient-specific genetic information to screen for increased risk of adverse drug reactions and therapeutic responses at the time of drug dispensing.

The invention relates to POU3F4 mutant gene which has 499C> T mutation, which is relative to human genetic deafness. The invention provides a reagent kit for detecting POU3F4 gene 499 C>T mutation, and a detection process which is used to diagnose the reason and kind of deafness generation through detecting whether patients have the mutation genes. The mutant gene and the detection process are beneficial for the POU3F4 mutation screening work of deafness patients which is carried out on clinics, and provides services for the diagnosis and treatment of deaf patients.

The invention discloses a novel deafness related gene mutation detection system, for detecting whether deafness gene mutation sites have mutation or not by using multiple PCR primers and a detection probe. The deafness gene mutation sites comprise a newly found CEACAM16 gene (NM_001039213.2)c.418A>C mutation site. The 32 sites selected by the detection kit are screened according to the latest human genetic deafness related gene mutation information and firsthand information accumulated by the inventor in clinical detection, and the selected sites are sites with relatively high mutation frequency in people of China and other countries and sites which are newly found in clinical detection by the inventor. Compared with deafness related gene mutation detection products available in the market, the kit covers relatively more detection sites so that the mutation detection rate is increased.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to gernline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and / or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.

The present invention relates in general to human genetic polymorphisms and their association with human health and to methods and materials for analyzing allelic variations, and to the use of genetic polymorphisms in the diagnosis and treatment of smoking behavior and nicotine dependence. Provided herein are methods for determining risk in a subject of developing regular smoking behavior. Also provided are primers, probes, microarrays, and kits related thereto.

The present invention relates generally to the field of human genetics, and more specifically to the detection of a specific type of germline mutations in the BRCA1 gene, which will predispose to breast and ovarian cancer. In addition, the invention relates to the molecular genetic mechanism that may have mediated the genesis of these mutations, in particular the role of Alu repetitive DNA elements present in the intronic regions of BRCA1. The invention further relates to somatic mutations of this type in the BRCA1 gene in human breast and ovarian cancer, and their use in the diagnosis and prognosis of human breast and ovarian cancer. The invention more particularly relates to the screening of this type of BRCA1 mutations in human genomic DNA, which are useful for the diagnosis of inherited predisposition to breast and ovarian cancer.

The invention relates to a method for amplifying and detecting a target nucleic acid sequence under an isothermal condition by virtue of relates specific primers. The method provided by the invention,through the design of the special primers, can fundamentally achieve a purpose of implementing rapid, convenient, efficient and specific amplification and detection on target genes under the isothermal condition. Meanwhile, the invention also relates to applications of related kits in the aspect of rapid nucleic acid diagnosis, wherein the applications include an application in the aspect of detection of such pathogenic microorganisms as bacteria, germs and the like, and an application in diagnosis of related genes of human genetic diseases.

The invention relates to a novel technique for amplifying a nucleic acid sequence, in particular to a method for amplifying a target nucleic acid sequence at a constant temperature by using a cross primer. The invention also relates to a method for marking the amplified target nucleic acid sequence in an amplified reaction and a method for quickly detecting the target nucleic acid sequence. The invention also relates to a kit used in quick nucleic acid diagnosis, the application of the kit in the aspect of detecting the nucleic acid of pathogenic microorganisms including bacteria, viruses andthe like, and the application of the kit in gene diagnoses correlative with human genetic diseases.

The invention belongs to the technical field of biology and relates to a method of introducing random insertion mutation to genome of in-vivo spermatogonial stem cells. In the introduction of insertion mutation, provided is a non-integrated lentivirus composite carrier carrying a piggyBac transposon system and its preparation method. The carrier and the method are applicable to efficiently preparing non-human gene mutation animals. A gene mutation animal prepared by the method is applicable to animal phenotypic analysis, gene function research, Human genetic disease simulation, novel drug screening and novel drug target finding.

The invention discloses a preparation method of a souvenir carried with individual biological tissue cells and DNA, and belongs to the field of biotechnology. The organism materials separated from an organism are easy to decay and difficult to store; although a mature method in the biomedical field is provided, a storage mode of the method is unsuitable for household and personal applications. The invention aims to provide a storage method and a preparation process of individual biological cells and a complete genome thereof for household collection. The method disclosed by the invention comprises the following steps of sample collection, fixation, dyeing, dehydration, hyalinizing / sealing, molding and the like. The method has the beneficial effects that the individual biological DNA is completely preserved in a cell nucleus in situ according to a genome unit, i.e., non-renewable human genetic information resources are persistently preserved, so that the biological engineering operation taking a single cell, a single cell nucleus and a single genome as units can be easily carried out in future, and thus an immeasurable value and contribution for future people to research genetics and human evolution is provided.

The invention discloses a method for systematically freezing and storing human umbilical cord tissues according to structure levels. The method comprises the following steps of (1) separation and freeze storage of umbilical cord amniotic membrane tissues; (2) separation and freeze storage of umbilical cord blood vessel tissues; (3) separation and freeze storage of umbilical cord Wharton's jelly tissues. The invention also provides an umbilical cord restoration method. The freeze storage method provided by the invention has the advantages that the umbilical cord amniotic membrane, blood vesselsand Wharton's jelly tissues are sequentially peeled according to the structure levels; then through treatment, the materials are put into liquid nitrogen for freeze storage; three tissues of the umbilical cord are respectively stored; different freeze storage and restoration methods are used according to the specificity of each tissue; the freeze storage restoration activity and cell yield are favorably improved. The invention provides a set of methods for systematically storing complete umbilical cord tissues of various types; important biological resources are provided for the study of thestem cells from the umbilical cord and can be used for building tissue or cell resource sample databases derived from the umbilical cord. The method of the invention provides a solid foundation and basis for completing the human genetic resource databases from the umbilical cord.

The present invention relates generally to the field of human genetics, and more specifically to the detection of a specific type of germline mutations in the BRCA1 gene, which will predispose to breast and ovarian cancer. In addition, the invention relates to the molecular genetic mechanism that may have mediated the genesis of these mutations, in particular the role of Alu repetitive DNA elements present in the intronic regions of BRCA1. The invention further relates to somatic mutations of this type in the BRCA1 gene in human breast and ovarian cancer, and their use in the diagnosis and prognosis of human breast and ovarian cancer. The invention more particularly relates to the screening of this type of BRCA1 mutations in human genomic DNA, which are useful for the diagnosis of inherited predisposition to breast and ovarian cancer.

The present invention relates generally to the field of human genetics. More specifically, this invention relates to the clinical application of a bioinformatics methodology described in patent application Ser. No. 14 / 154,303 for the early detection of cancer. Said clinical application relates to obtaining the genome sequence from an individual's healthy tissue and comparing it to the DNA sequence obtained from that same individual's body tissues, wastes and / or fluids. Said method inspects the DNA sequence obtained from body tissues, wastes and / or fluids for the presence of DNA damage at bioinformatically predicted genetically unstable loci within cancer-linked regions of the patients healthy DNA. The identification of DNA damage within a predicted locus is considered to be evidence of cancer. Said method then uses the unique signature of any damaged DNA sequence which has occurred at predicted unstable cancer-linked loci to construct patient-specific cancer biomarker(s). These biomarkers can be used for monitoring the progression of cancer and for treatment of the cancer in a patient.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to germline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and / or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.

The invention provides a genetic reference standard with at least one human genetic reference sequence (having a human DNA sequence containing at least one genetic variant whose presence in the DNA of a human subject is indicative of a pathological condition, a predisposition to a pathological condition, or a predisposition to an adverse reaction to external stimuli, or is indicative of a patient's likely response to a therapeutic intervention, i.e. a variant used in pharmacogenomic analysis) cloned into a non-mammalian animal cell line. There are also provided such reference standards where the human DNA is targeted to specific location in the host genome, using homologous recombination. The invention further provides a method of detecting a genetic variant using such reference standards.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to detect a human sporadic DCM predisposing gene, specifically the dystrophin gene, some mutant alleles of which cause susceptibility to sporadic DCM. More specifically, the invention relates to germline mutations in the dystrophin gene and their use in the diagnosis of predisposition to sporadic DCM. The invention also relates to the prophylaxis and / or therapy of sporadic DCM associated with a mutation in the dystrophin gene. The invention further relates to the screening of drugs for sporadic DCM therapy. Finally, the invention relates to the screening of the dystrophin gene for mutations / alterations, which are useful for diagnosing the predisposition to sporadic DCM.

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a KCNH2 mutant gene; wherein in the genome position chr7: 150654492, a basic group A is mutated into a basic group T, and the reference genome version is GRCh37. The invention also relates to a long QT syndrome detection kit, which comprises a forward primer and a reverse primer designed according to the KCNH2 mutant gene, the sequence of the forward primer is SEQ ID NO: 5, and the sequence of the reverse primer is SEQ ID NO: 6. The human KCNH2 mutant gene provided by the invention can be used for distinguishing long QT syndrome patients from normal people and is used as a biomarker for clinical auxiliary diagnosis of the long QT syndrome; by detecting a carrier of the variation, prenatal guidance and genetic counseling can be provided for a subject, and birth of a child patient is reduced; according to the invention, a possible drug target is provided for human to treat the long QT syndrome, and research and development of innovative drugs are promoted.

A comprehensive human genetic ointment for treating tumor is prepared from the primary raw material composed of 27 Chinese-medicinal materials including ganoderma, cordyceps, notoginseng, rhubarb, etc and the secodary raw material consisting of 5 Chinese-medicinal materials including coix seed, safflower, etc through immersing primary raw material in water, stirring, decocting, adding pulverized secondary raw material and stirring.

Disclosed are methods and software for biological data analysis. Specifically, provided are methods, computer programs and systems for analyzing data in the form of various intensity measurements obtained from an oligonucleotides microarray experiment. Such data may be microarray data obtained from an experiment conducted to determine copy number of a human genetic sample. The data are corrected by application of one or more covariate adjusters which may be applied simultaneously and which may be selected by a user. Further, the present application provides methods of filtering image data and signal restoration of image data using log2 ratio data.

The present invention relates to a method for detecting c.-124 C>T and c.-146 C>T mutations in the Htert gene promoter. The method uses reaction compositions that comprise amplification primers and genotyping probes. Another aspect of this invention relates to the primers and probes used to implement the aforementioned method, with sequences, identified as SEQ ID no.1 to SEQ ID no.6, that displayhigh specificity for these mutations, and to the compositions containing these primers and probes. The present invention further relates to a kit comprising the above-mentioned compositions for detecting c.-124 C>T and c.-146 C>T mutations in the Htert gene promoter by carrying out the method according to the present invention. The method, gene sequences, compositions and kit of the present invention can be advantageously used for detecting trace amounts of c.-124 C>T and c.-146 C>T mutations in biological samples, due to their high sensitivity and specificity for such mutations. The present invention can thus be applied in early detection, identification, detection of recurrence or prediction and monitoring of diseases associated with this type of mutations, such as bladder carcinomas, thyroid carcinomas, squamous cell carcinomas, basal cell carcinomas, melanomas, gliomas and hepatocellular carcinomas, inter alia, and ultimately provide the basis for defining a suitable treatment. Thus, the present invention pertains to the technical fields of medicine, pharmaceutics, molecular biology, biochemistry, human genetics and the like.

The invention relates to animal solid tumour models which comprise a transgenic non-human mammal containing in its genome a DNA construct that comprises a gene created and / or activated by a genetic anomaly associated with human cancer operatively bound to a promoter that directs the expression of the gene in Sca1+ cells. The invention also relates to stem cells capable of specifically expressing in stem cells human genetic anomalies associated with human pathologies. Applications of these models and stem cells, such as diagnostic, therapeutic and prophylactic applications for human diseases, and products and methods are provided.

The present invention provides genetic markers on human chromosome 6 that are associated with a beneficial response to a treatment that targets Clostridium difficile (C. difficile) toxin B (TcdB), e.g. a TcdB antibody. These TcdB treatment response markers are useful, inter alia, to identify patients who are most likely to benefit from treatment with a treatment that 5 targets TcdB in methods of treating patients having a disease susceptible to treatment with a TcdB antibody, and in methods for selecting the most appropriate therapy for such patients. The invention also provides antibodies, drug products, and kits useful with the TcdB Treatment response markers of the invention.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to diagnose distal hereditary motor neuropathy type II by detecting polymorphisms in HSP22 gene.

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a TTN mutant gene. The TTN mutant gene is characterized in that a base G is mutated into a base A at a genome position chr2: 179655434; and the reference genome version is GRCh37. The invention also relates to a dilated cardiomyopathy detection kit. The human TTN mutant gene provided by the invention can distinguish patients with dilated cardiomyopathy from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of dilated cardiomyopathy; by detecting a carrier of the variation, prenatal guidance and genetic counseling can be provided for a subject, and birth of a child patient is reduced; and a possible drug target is provided for human beings to treat dilated cardiomyopathy, and research and development of innovative drugs are promoted.

The embodiment of the invention relates to an early warning method and device for processing genetic resources, equipment and a computer storage medium. The method proposed herein comprises: determining constraint information for processing of genetic resources based on approval information associated with the genetic resources (e.g., human genetic resources), the processing comprising collectinggenetic resource samples from an object; determining a satisfied target early warning condition from a plurality of early warning conditions having different levels based on the constraint informationand execution information related to processing of the genetic resources; and providing an alert corresponding to the level of the target early warning condition to a user related to the target earlywarning condition. In this way, the embodiments of the present disclosure set different levels of early warning conditions, so that warnings about the processing of genetic resources can be providedto corresponding users in time, thereby avoiding the occurrence of violation behaviors.

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a mutated TTN gene which is characterized in that a base T is mutated into a base G at a genome position chr2: 179610658; the reference genome version is GRCh37. The invention also relates to a hypertrophic cardiomyopathy detection kit which comprises the primer for amplifying the mutated TTN gene. The mutant TTN gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the detection of the carrier of the variation provides prenatal guidance and genetic counseling for subjects, reduces the birth of child patients, and is of great significance in early diagnosis of hypertrophic cardiomyopathy or auxiliary clinical judgment.

The invention relates to the technical field of human genetics and internal medicine cardiovascular systems, in particular to a rare genetic disease mutant gene; compared with a reference sequence of wild type GLA gene coding DNA, the nucleotide sequence is SEQ ID NO: 3; at a genome position chrX: 100656741, a base C is mutated into a base A; and the reference genome version is GRCh37. The invention also relates to application of the rare genetic disease mutant gene in preparation of a detection kit. The rare genetic disease mutant gene provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; and the detection of a carrier of the variation provides prenatal guidance and genetic counseling for subjects, reduces the birth of child patients, and has great significance in early diagnosis of Fabry disease or auxiliary clinical judgment.

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human depression predisposing gene, specifically the apoptotic protease activating factor 1 (APAF1) gene, some mutant alleles of which cause susceptibility to depression. More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression. The invention also relates to the prophylaxis and / or therapy of depression associated with a mutation in the APAF1 gene. The invention further relates to the screening of drugs for depression therapy. Finally, the invention relates to the screening of the APAF1 gene for mutations / alterations, which are useful for diagnosing the predisposition to depression.