33 results about "Genes human" patented technology

The present invention relates to a method for the expression of genes belonging to different organisms (bacteria, fungi, plants, animals and humans) in P. pastoris cells, comprising the following processing steps;i. Transfer of the gene to be expressed into the plasmid carrying the alcohol oxidase 1 (AOX1) promoterii. Cloning of the plasmid carrying the geneiii. Transfer of the recombinant plasmid carrying the AOX1 promoter and gene into the expression hostiv. Induction of the AOX1 promoter with farnesol and consequent expression of the heterologous gene.The present invention will be used in the field of recombinant protein production.

The invention belongs to the technical field of gene editing, and particularly relates to sgRNA for TYROBP allele knockout and application of the sgRNA. According to the present invention, the action site of the sgRNA is located on the first exon of the human TYROBP gene, and specifically comprises the TYROBP-gRNA2 represented by the nucleotide sequence such as SEQ ID NO. 2; on the basis of a CRISPR / Cas9 technology, allele editing of the human TYROBP gene is achieved through specific sgRNA, and the allele knockout efficiency of the human TYROBP gene reaches 90% or above. Therefore, according to the technical scheme, the knockout efficiency of the TYROBP gene is improved, the construction cost of the TYROBP allele knockout cell strain is reduced, and the TYROBP allele knockout cell strain has actual popularization and application value.

The application discloses a method for constructing a CRBN gene humanized mouse model, which comprises replacing a knockout region of a mouse CRBN gene with a knock-in region of a human CRBN gene, so that the CRBN gene humanized mouse model is constructed, and the CRBN gene of the CRBN gene humanized mouse model is subjected to amino acid substitution of S369C, V380E, I391V and E431D. The application replaces a key functional domain of a mouse endogenous CRBN gene with a corresponding sequence of a human CRBN gene, so that the mouse can express a functional human CRBN protein, thereby solving the problem of lack of sensitivity of a wild-type mouse to a CRBN-dependent drug. The model provides an ideal preclinical experimental platform for studying the efficacy, toxicity and mechanism of action of a CRBN-related drug.

The invention relates to a construction method and application of a spontaneous and persistent ventricular tachycardia animal model, in particular to a spontaneous and persistent ventricular tachycardia rat model based on MYL4 gene defect and myocardial infarction induction. The model is constructed by utilizing the synergistic effect of double pathological factors of MYL4 gene conserved gene defects and acquired myocardial infarction, the induction rate of the model is greater than or equal to 90%, the spontaneous duration time reaches 1-3 min, and the method is obviously superior to an existing construction method for inducing the spontaneous and continuous ventricular tachycardia model. The model can simulate the pathophysiological process of ventricular tachycardia after human MYL4 gene related cardiovascular diseases combined with myocardial infarction, provides general technical support for ventricular arrhythmia pathogenesis research, drug screening and medical instrument research and development, and has wide scientific research and clinical transformation value.

Provided herein are compositions and methods for modifying the human gene, APOC3. Such compositions and methods may result in the reduction of the protein, apolipoprotein C3 (apoC-III) when administered to a human subject. Compositions and methods provided herein may comprise a CRISPR-associated (Cas) protein or uses thereof. Compositions and methods of the present disclosure may be useful for treatment of APOC3 associated conditions, including persistent chylomicronemia, familial chylomicronemia syndrome (FCS) and severe hypertriglyceridemia (SHTG).

Provided is a method of differentiating a pluripotent stem cell of mammalian origin into a desired cell type by predicting the direction of cell differentiation to be caused by induction of expression of a transcription factor. A human gene expression correlation matrix using human cells has been newly created, and further, it has been confirmed that human pluripotent stem cells can be differentiated into a desired cell type by introducing, into the human pluripotent stem cells, a transcription factor cocktail selected from the matrix.

A DNA immortalization construct includes a first nucleic acid sequence derived from the 5′ end of human CDKN2A gene exon 2. An EF1α promoter sequence is connected to the first sequence. A first LoxP sequence is connected to the EF1α promoter sequence. A human TERT gene sequence is connected to the first LoxP sequence. A second LoxP sequence is connected to the human TERT gene sequence. An internal ribosomal entrance site (IRES) sequence is connected to the second LoxP sequence. An antibiotic selection gene sequence is connected to the IRES sequence. An SV40 poly-A signal sequence is connected to the antibiotic selection gene sequence. A second nucleic acid sequence is connected to the SV40 poly-A signal sequence and derived from 3′ end of human CDKN2A gene exon 2.

The present invention relates to a novel antisense transcript to the human SLC2A1 (Glut1) gene, variants and fragments thereof. This antisense transcript can be used to modulate Glut1 expression and serve to restore Glut1, and as a therapeutic for treating or preventing Glut 1 deficiency syndrome, or other Glut1 related conditions including certain cancers, diabetes, Alzheimer's disease, and retinitis pigmentosa.

The invention provides a genetic marker detection system containing 68 high-performance autosomal haplotypes and application, and relates to the field of forensic identification. The detection system is formed by combining 68 amplification primer pairs after amplification, and the sequences of the amplification primers are as shown in SEQ ID No. 1 to SEQ ID No. 136. The invention also provides a method for identifying the genetic relationship, which comprises the following steps: S1, collecting a sample, extracting DNA (Deoxyribonucleic Acid), and obtaining a corresponding original sequencing result; s2, comparing an original sequencing result with a human reference genome hg38, and screening to obtain a genetic typing of each MiniHap gene locus; and S3, calculating the likelihood ratio of the specific genetic relationship between the sample pairs, and judging whether the sample pairs have the genetic relationship or not. According to the invention, a haplotype panel containing 68 human MiniHaps gene loci is constructed, and by combining multiple PCR and nanopore sequencing, very high personal identification and genetic relationship identification system efficiency can be achieved, and genetic relationship identification within third level is expected to be realized.

The disclosure relates to methods of selecting a cancer patient for treatment with an immune checkpoint inhibitor therapy, including assaying a biological sample from a cancer patient for an expression profile of human genes or human proteins encoded by the human genes, wherein the expression profile (i) is identified using a Cross-Species Tumor Immune Microenvironment algorithm, which is based on murine quantitative trait loci (QTL) mapping, and (ii) is associated with immune checkpoint inhibitor response, selecting the cancer patient who has the expression profile for treatment with an immune checkpoint inhibitor therapy, and optionally administering the immune checkpoint inhibitor therapy to the cancer patient.

The present invention provides a genetically modified non-human animal or the like that functionally lacks an endogenous ABCB1 gene and that functionally expresses the human ABCB1 gene, the genetically modified non-human animal or the like retaining a DNA construct for functionally expressing the human ABCB1 gene, wherein the DNA construct includes a coding sequence for the human ABCB1 gene, a CAR / PXR response element present in the 5' promoter region of the human ABCB1 gene, at least one intron of the human ABCB1 gene, and a sequence of the enhancer region present at the 3' end side of the human ABCB1 gene, and the DNA construct does not include at least a portion of the coding sequence for the human ABCB4 gene or includes only a portion of the human RUNDC3B gene.

This application relates to a molecular diagnostic reference for human gene detection, its preparation method, and its application. The reference is a recombinant cell, and the chromosome of the recombinant cell integrates the exogenous human variant gene to be detected in the form of homologous recombination; wherein the recombinant cell is selected from either recombinant mammalian cells or recombinant insect cells. This reference is substantially similar to clinical samples or cell lines of the human variant gene to be detected in terms of structure, performance, and composition, and can fully simulate gene deletion, gene insertion, gene fusion, gene amplification, fragment duplication, gene breakage, SNP, and gene overexpression. Furthermore, the preparation method of the reference is simple to operate, has a short preparation cycle, produces large quantities, has low production costs, and its source and performance are sufficiently stable. During use, the entire process from sample processing to detection can be monitored, exhibiting high biosafety and making it well-suited for application in molecular diagnostic products for human gene detection.

The invention relates to the field of genomes, in particular to an LTalpha humanized genome, a vector and application. According to the application, the human LT alpha gene is used for replacing the LT alpha gene of the mouse, so that the humanized LT alpha mouse can better simulate human immune response.

The application discloses a PTPRQ gene mutation site related to non-syndrome deafness, the mutation site is a novel pathogenic mutation site on a human PTPRQ gene, and is one or more combinations selected from c.4723C>T, c.6040C>T, c.1811T>C, c.5687-6del and c.6560C>T. A specific probe set for detecting a PTPRQ gene mutation, the probe set is a double-stranded DNA probe, is designed according to a PTPRQ gene 45-exon sequence of a transcript NM_001145026 and a flanking region of each 5' end and 3' end of each exon with an extension of 50 bp, contains 169 probes in total, the length of a single probe is 120 bp, a shingled design is adopted, there is an overlapping region between adjacent probes, and the probe density is dynamically adjusted according to the GC content of a target sequence. A detection method of a PTPRQ gene mutation, with peripheral blood or a blood sheet of a to-be-tested person as a sample, extracting genomic DNA, performing targeted capture enrichment by using the specific probe set, combining high-throughput sequencing with standardized bioinformatics analysis, and judging whether the PTPRQ gene mutation exists in the to-be-tested sample.

The invention discloses a detection method for distinguishing human genetic materials based on a nanopore sequencing technology and a DNA bar code technology. The detection method is characterized by comprising the following steps: (1) extracting total nucleic acid of a sample to be detected; (2) carrying out PCR (Polymerase Chain Reaction) amplification on a sample to be detected by adopting the degenerate primer; and (3) sequencing the PCR product based on a nanopore sequencing technology, and determining whether the to-be-detected sample contains the human genetic material based on a sequencing result. Primer design and optimization are carried out according to the COI gene of human mtDNA, compared with a general identification primer for mammals, the capture capacity of the human COI gene is improved, meanwhile, a sequencing experiment process suitable for on-site rapid detection is developed, enough data can be obtained by computer sequencing for 10 minutes, and then comparison with a known sequence is carried out.

The utility model discloses a kit for detecting human HLA-I / II type gene expression typing and expression quantity, which comprises a kit body and a flip type kit cover rotationally connected with the kit body, a paper support is arranged in the kit body, and the paper support divides the interior of the kit body into an upper layer and a lower layer; more than twenty reagent tube holes are formed in the paper support and are divided into three areas, one area is a reverse transcription reagent area used for containing reverse transcription reagent tubes for cDNA synthesis, and the other area is a reverse transcription reagent area used for containing reverse transcription reagent tubes for cDNA synthesis; the second region is an enrichment reagent region and is used for accommodating HLA enrichment amplification related reagent tubes, namely an HLA Target Mix1 reagent tube for capturing HLA-I / II type genes, an HLA Target Mix2 reagent tube for capturing HLA-I / II type genes and a PCR (Polymerase Chain Reaction) reagent for capturing HLA-I / II type genes; and the third region is a library building reagent region and is used for containing a reagent for constructing the DNA library after targeted capture. According to the kit and the use method thereof, the immune state of cells can be evaluated more truly; the method is simple, effective and stable in process.

The present invention relates to the field of biotechnology, genetic engineering and medicine, in particular, to a highly efficient system for editing the F508del mutation in the cystic fibrosis transmembrane regulator (CFTR) gene to the wild type, comprising a polynucleotide which comprises a nucleotide sequence, encoding the SpCas9 nickase recognizing PAM NGG or NG, and a prime editing guide RNA (pegRNA) comprising in its structure a sequence complementary to the target locus for editing the F508del mutation in human CFTR gene, a reverse transcription template (RTT) and a primer binding site (PBS), wherein the prime editing guide RNA (pegRNA) has sequence SEQ ID NO: 1-6 or a sequence comprising one or more replacements in the RTT compared to SEQ ID NO: 1-6, selected from SEQ ID NO: 7-168. The system for editing the F508del mutation in the cystic fibrosis transmembrane regulator (CFTR) gene to the wild type provides more efficient editing of the F508del mutation in the cystic fibrosis transmembrane regulator (CFTR) gene to the wild type and is a highly efficient cystic fibrosis treatment. The present invention also relates to the method of editing the F508del mutation in the cystic fibrosis transmembrane regulator (CFTR) gene using the system for editing the F508del mutation in the cystic fibrosis transmembrane regulator (CFTR) gene according to the present invention and the use of the system for editing the F508del mutation in the cystic fibrosis transmembrane regulator (CFTR) gene for treating cystic fibrosis.

The invention discloses a human gene CD300C immune polypeptide epitope and an application thereof. The amino acid sequence of the human gene CD300C immune polypeptide epitope is shown as SEQ ID NO.01. The blocking type monoclonal antibody is prepared based on a hybridoma technology, and the method comprises the steps of animal immunization, cell fusion, screening and purification and the like. The monoclonal antibody can block the binding of CD300C and a ligand thereof, and neutralize the inhibitory activity of CD300C on T cells. In-vitro experiments prove that the monoclonal antibody can recover the capability of secreting IL-2 and IFN-gamma by CD8 + T cells and maintain the proportion of the CD8 + T cells; an in-vivo nude mouse model shows that the traditional Chinese medicine composition can significantly inhibit the volume growth of colorectal cancer tumors and has no visceral toxicity. The invention can be used for the development and immunotherapy of diagnostic kits for CD300C positive malignant tumors such as colorectal cancer, improves the diagnosis accuracy and curative effect, and has potential social and economic benefits.

The function of enhancing stem cells is accomplished with a specific transfected human gene type into a stem cell of choice to allow for the regenerative potential of the selected stem cell to be greatly enhanced by combining both gene and stem cell therapies together. Specific genes for selected protein production are cultured with a stem cell of choice which then produces a supernatant composed of an exosome-gene complex. This exosome-gene complex can also be used as a therapeutic gene therapy on its own or in combination with a stem cell gene complex together for a specific cellular effect, organ or tissue of regenerative effect or general systemic result.

Provided are compositions and methods for editing a nucleotide sequence of a human GNE gene, e.g., encoding a M743T mutation.

The present invention relates to means and method for AAV based gene therapies in humans. In particular, the present invention relates to the treatment of human patients that may be suspected to have antibodies directed against the AAV intended for use in said treatment.

Provided herein are compositions comprising viral vectors encoding the human FRRS1L gene and methods of using the compositions in treating FRRS1L diseases, for example, epileptic-dyskinetic encephalopathy.

The application discloses an enhancer regulatory element for transcriptional regulation and expression of a human LTF gene and application thereof, wherein the sequence of the regulatory element is SEQ ID No. 1. Experiments prove that the human-specific regulatory element can significantly activate the expression of a reporter gene (up to 14.93 times) in a bovine mammary epithelial cell line (MACT), breaks through the limitation of a species-conserved element in the prior art, and an expression system designed based on the element can realize efficient expression of LTF at a human level, thereby providing a new tool for mammary gland bioreactors and development of functional dairy products.

The invention provides a spontaneous deafness disease rat model constructed based on a cytosine base editor. The rat model provided by the invention lays a foundation for screening a base editor human source treatment target spot for gene therapy of Gjb2V37X point mutation human hereditary deafness, delivery of AAV and other vectors to a human Gjb2 overexpression vector and a base editor, clinical drug screening and a pathogenic mechanism of point mutation deafness on a V37 site on a human Gjb2 gene.

In alternative embodiments, the invention provides nucleic acid sequences that are genetic polymorphic variations of the human TMEM216 gene, and TMEM216 polypeptide encoded by these variant alleles. In alternative embodiments, the invention provides methods of determining or predicting a predisposition to, or the presence of, a ciliopathy (or any genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function) in an individual, such as a Joubert Syndrome (JS), a Joubert Syndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative embodiments, the invention provides compositions and methods for the identification of genetic polymorphic variations in the human TMEM216 gene, and methods of using the identified genetic polymorphisms and the proteins they encode, e.g., to screen for compounds that can modulate the human TMEM216 gene product, and possibly treat JS, JSRD or MKS. In alternative embodiments, the invention provides cells, cell lines and / or non-human transgenic animals that can be used as screening or model systems for studying ciliopathies and testing various therapeutic approaches in treating ciliopathies, e.g., JS, JSRD or MKS.

The application discloses a Caenorhabditis elegans disease model and a construction method and application thereof, and particularly relates to a Caenorhabditis elegans disease model for neurodegenerative diseases, which comprises Caenorhabditis elegans, wherein a fragment of NOTCH2NLC GGC is overexpressed in the Caenorhabditis elegans, the sequence of the fragment is shown as SEQ ID NO. 1, and the neurodegenerative diseases include NIID. The application overcomes the difficulty of cloning GGC repeat sequences, successfully overexpresses 100 GGC repeat sequences of a human NOTCH2NLC gene in Caenorhabditis elegans, and shows similar behavior disorders and premature aging symptoms to human NIID diseases. The model is a good animal model for studying the pathogenic mechanism of GGC repeat sequences of the NOTCH2NLC gene and drug screening.

This invention discloses a human SLC25A13 gene detection kit and its application, including primer and probe sets for eight related sites: c.851_854deL4, c.1638_1660dup, IVS6+5G>A, IVS16ins3kb, IVS4ins6kb, IVS11+1G>A, c.1399C>T, and c.1078C>T. The probe design for the c.1638_1660dup site employs a competitive anti-slip design, enabling the nucleic acid combination 2 at this site to effectively distinguish between heterozygous and homozygous mutations at the c.1638_1660dup site. The kit provides reliable genotyping results with 100% consistency with direct sequencing, exhibiting higher sensitivity than traditional sequencing methods. Furthermore, it is simple and rapid to operate, facilitating large-scale deployment.

A target gene prediction method of traditional Chinese medicine tRNA, tRFs and t-halves based on artificial intelligence comprises the following steps: extracting and separating the tRNA of the traditional Chinese medicine, and carrying out next-generation sequencing to obtain a tRNA sequence; according to a sequencing result, tRFs and t-halves sequences derived from the traditional Chinese medicine are designed, the modification variety and site of tRNA are analyzed through LC-MS / MS, and a database of tRNA fragments of the traditional Chinese medicine is constructed; based on a sequence of a human gene mRNA 3 'UTR, a potential target gene of a traditional Chinese medicine tRNA fragment is preliminarily screened by using a base complementary pairing tool; verifying the inhibition efficiency of the traditional Chinese medicines tRFs and t-halves on the target gene through experiments, and constructing a sample data set in combination with the screening result in the previous step; and constructing a deep learning convolutional neural network (CNN) model, carrying out training and optimization by using the sample data set, and outputting a prediction result of the target gene and the inhibition efficiency thereof.

The function of enhancing stem cells with a specific transfected human gene type into a stem cell of choice to allow for the regenerative potential of the selected stem cell to be greatly enhanced by combining both gene and stem cell therapies together. Specific genes for selected protein production are cultured with a stem cell of choice which then produces a supernatant composed of an exosome-gene complex. This exosome-gene complex can also be used as a therapeutic gene therapy on its own or in combination with a stem cell gene complex together for a specific cellular effect, organ or tissue of regenerative effect or general systemic result.