52 results about "Genes human" patented technology

To provide a new composition for increasing expression of the Klotho gene and an application thereof.SOLUTION: The present disclosure provides, in one aspect, the following invention: a composition for enhancing expression of the human Klotho / KL gene, the composition comprising at least a portion of a protein belonging to the TNF superfamily or a nucleic acid encoding at least a portion of the protein.SELECTED DRAWING: None

The invention discloses an enhancer regulatory element for transcriptional regulation expression of a human LTF gene and application of the enhancer regulatory element. The sequence of the regulatory element is SEQ ID No.1. Experiments prove that the human specific regulatory element can significantly activate report gene expression (improved by 14.93 times) in a bovine mammary epithelial cell line (MACT), the limitation of dependence on species conservative elements in the prior art is broken through, and an expression system designed based on the element can realize human level LTF high-efficiency expression. And a brand new tool is provided for development of mammary gland bioreactors and functional dairy products.

Disclosed are in vitro transcribed (IVT) messenger RNAs (mRNAs) comprising a polynucleotide that encodes human TJP2 gene, a 5' terminal cap, and a poly-adenylation (poly- A) tail at the 3' terminal end. In aspects, the polynucleotide is substantially free of uridine bases and comprises pseudouridine bases. Methods, compositions and uses employing the IVT mRNA for treating or preventing progressive familial intrahepatic Cholestasis type IV (PFIC type 4) in a patient in need thereof is also disclosed.

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).

The invention relates to a method for associating gene mutation points with specific physiological characteristics. The method comprises the following steps: receiving a sequenced test gene sequence from a human gene database; taking out a test sequence fragment with the gene length equal to the window length from the test gene sequence by adopting a sliding window with the window length; analyzing the test sequence fragments by using the prediction model; based on the analysis, determining whether the test sequence fragment is associated with a specific physiological feature; and determining that the test gene locus located at the center of the test sequence fragment is a gene mutation point associated with the specific physiological feature in response to judging that the test sequence fragment is associated with the specific physiological feature.

Provided herein are compositions, systems, and methods for modifying a human APOC3 gene, PCSK9 gene, or ANGPTL3 gene. Systems, compositions, and methods may comprise a CRISPR-associated (Cas) protein or uses thereof. Systems, compositions, and methods of the present disclosure may be useful for treatment of APOC3 associated conditions, including 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.

To provide improved nuclease variants, compositions, and methods of using the same for editing the human program cell death 1 (PDCD-1) gene.SOLUTION: The present disclosure generally relates to compositions comprising homing endonuclease variants and megaTALs having improved stability and activity for cleaving a target site of the human PDCD-1 gene and methods of using the same. The present disclosure also contemplates a polypeptide comprising an engineered homing endonuclease modified to improve stability, binding, and cleavage of a target site. The polypeptide includes an I-OnuI homing endonuclease (HE) variant.SELECTED DRAWING: None

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.

The invention relates to a method for detecting influenza A and B viruses and a kit thereof, and provides a primer group capable of simultaneously detecting the influenza A and B viruses, a first primer pair takes a specific gene body fragment of the influenza A as an amplification label, and a second primer pair takes a specific gene body fragment of the influenza B as an amplification label. When the primer group is used for detecting the influenza A virus and the influenza B virus, the primer group can tolerate at least 300 nanograms (ng) of human genosome DNA interference reverse transcription polymerase chain reaction, so that the detection sensitivity is not easily interfered by the human genosome DNA in a sample.

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.

Provided are: a genetically modified non-human animal that lacks endogenous FVIII / FIX / FX gene expression and expresses a human FIX / FX gene at a physiologically reasonable level; a method for producing the non-human animal; and a method for evaluating a test substance using the non-human animal.

The invention provides a mass spectrum data analysis method of a new N-terminal protein variant, which breaks through the limitations of proteogenomics and de novo sequencing. A first specific property spectrum data analysis algorithm NovelNSeq specially aiming at a marker peptide fragment (a new N-terminal extension peptide fragment) of a new N-terminal protein is developed, and the algorithm does not depend on transcriptome data or de novo sequencing. By fully utilizing the peptide fragment coding logic, the accuracy is obviously higher than that of a mainstream de novo sequencing algorithm, and the method has the traceability of a peptide fragment coding mechanism. A plurality of new N-terminal protein variants coded by human genes are identified and verified in deep coverage mass spectrum data, the variants are not found in large-scale proteogenomics research of the same mass spectrum data, and NovelNSeq is proved to be capable of serving as an important supplement of a traditional method and is a powerful tool for finding new N-terminal proteins.

An object of the present invention is to provide an immunodeficient mouse which is capable of eliminating effects of immune cells from the immunodeficient mouse against human antibodies and in which human cells are engrafted at high level.Deletion of a mouse FcgR gene from an NOG mouse results in a mouse that does not exhibit antibody-dependent cellular cytotoxic activity on tumors, and in the mouse, human cells can be engrafted at significantly higher level than that in the NOG mouse. Furthermore, by introducing the human IL-15 gene into the mouse and engrafting a human NK cell in the mouse, only human NK cells become effector cells to enable evaluation of ADCC activity.

The present disclosure provides methods and compositions for the treatment of diseases and genetic disorders linked to MeCP2 loss and / or misfunction, including RETT syndrome. The methods and compositions of the present disclosure comprise rAAV vectors and rAAV viral vectors comprising transgene nucleic acid molecules comprising nucleic acid sequences encoding for a MeCP2 polypeptide.

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 relates to a preparation method of an APP gene humanized mutation vector and a non-human animal model. The APP gene humanized mutation vector comprises an APP gene knockout vector and an APP gene homologous recombination vector, and the APP gene knockout vector comprises at least one of SEQ ID NO: 1, SEQ ID NO: 2, SEQ ID NO: 3 and SEQ ID NO: 4; the APP gene homologous recombinant vector comprises a part of nucleotide sequence for coding non-human animal APP protein, and the non-human animal APP protein contains human APP protein pathogenic mutation sites which are specifically as shown in SEQ ID NO: 5. Humanized mutation is carried out on the non-human animal APP, the original nature of the in-vivo environment of the non-human animal is maintained to the maximum extent, expression and folding of the gene are facilitated, the situation that protein folding is abnormal and conflicts with existing protein of the non-human animal are caused due to direct insertion of the human APP gene is prevented, and the method is closer to the real pathological process; and a more real and reliable disease model in pathology can be obtained.