58 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 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 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 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 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.

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 invention relates to a base editing system based on bimolecular deaminase complementation and application thereof, and belongs to the technical field of gene engineering. The system mainly comprises nCas9 and nucleobase deaminase double complementary base editing fusion proteins A and B and guide RNA (Ribonucleic Acid). Compared with a traditional cytosine base editing system, the cytosine base editing system based on bimolecular deaminase complementation disclosed by the invention has the advantages that Cas9 dependent type and Cas9 independent type off-target on a genome is greatly reduced while the target efficiency in efficient cytosine base editing is maintained; the invention further provides an adenine base editing system based on bimolecular deaminase complementation, wherein the adenine base editing system can work efficiently. The cytosine and adenine base editing system based on bimolecular deaminase complementation is generally suitable for eukaryotes from fungi and animals to plants, and has wide application prospects in the fields of crop genetic breeding, animal variety improvement, clinical treatment of human genetic diseases and the like.

The invention discloses a comprehensive information management system for a biological sample library, which adopts a B/S (Browser/Server) system architecture and supports multi-account login, and a server is locally arranged and is in butt joint with an HIS (Hospital Information System), an LIS (Local Information System), a PACS (Picture Archiving and Communication System) and a maternal and child health information system; the comprehensive information management system for the biological sample library comprises a scientific research project management module, a specimen information management module, a specimen management module, a quality control management module and a system setting module. Project management and process management online examination and approval of examination and approval processes of collection, preservation, utilization and destruction of human genetic resources are realized, and integration of diagnosis information and five-level electronic medical record information of specimens and patients is realized; quality control parameters are recorded in the system, later quality tracing is facilitated, biological samples can be subjected to substantive standard management, sample information can be subjected to integration and summary statistics, and the management cost is reduced.