35 results about "Mutation gene" patented technology

The present application provides guide RNAs and genome-editing complexes or nanoparticles that are useful for specifically targeting a mutated KRAS. Exemplary genome-editing complexes or nanoparticles comprise cell-penetrating peptides, and optionally a DNA nuclease (such as Cas9) or a polynucleotide encoding the DNA nuclease.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an oocyte occurrence and maturation disorder detection panel, a detection kit and application thereof, and the detection panel comprises mutation genes related to the oocyte occurrence and maturation disorder for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, by detecting high-risk genes and mutation sites, the risk of occurrence and maturation disorder of the oocytes is predicted in combination with clinic, the development potential of the oocytes is evaluated, the in-vitro maturation strategy is optimized, and the clinical outcome of assisted reproduction is improved. The detection panel can be used for efficiently detecting gene mutation which has clinical diagnosis and treatment significance on oocyte occurrence and maturation disorders; the method has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention measures of patients suffering from recurrent oocyte occurrence disorder, oocyte maturation disorder and low oocyte maturation rate and patients to be subjected to assisted reproduction technology treatment.

The invention discloses a plant leaf globulin BrLH1 coding gene, and belongs to the field of plant genes. According to the invention, a specific primer is designed, a PCR technology is utilized, and a gene named as BrLH1 is cloned from comfortable heading Chinese cabbage; the qPCR analysis finds that the gene is expressed in a Chinese cabbage flat-collapse non-heading mutant, but the expression of the gene is lower than that of a wild type. Through MutMap result analysis, the BrLH1 (leafy head 1) is a function deletion type gene, and after the gene BrmLH1 is mutated, the leaf of the Chinese cabbage does not form a ball. The BrLH1 can be used as a gene resource for improving plant morphology, can realize precise design and breeding of plant gene editing, and has important theoretical significance and application value in the aspects of creating new germplasm and improving yield and quality.

The invention discloses an editing system for repairing amyotrophic lateral sclerosis pathogenic mutant genes, and relates to an IS621-bridge-RNA gene editing system capable of being applied to eukaryotic cells, an AAV9 virus vector mediated IS621-bridge-RNA gene editing system and application of the AAV9 virus vector mediated IS621-bridge-RNA gene editing system, and the IS621-bridge-RNA gene editing system, a recombinant expression vector and a gene therapy mode are included.

The application belongs to the field of plant genetic engineering, and particularly relates to application of a rice leaf albino gene OsLCD2 in regulating rice leaf color traits, and further provides a low-temperature sensitive rice leaf albino gene oslcd2. The OsLCD2 gene and the oslcd2 gene provided by the application have application prospects in hybrid F1 generation hybrid purity identification and sterile line self-cross propagation seed purity identification in rice breeding, and are of great significance in improving seed purity and reducing hybrid rice production risks.

The invention discloses a hepatocellular carcinoma prognosis and treatment adaptability evaluation model based on mRNA vaccine antigen and a construction method. The method comprises the following steps: firstly, analyzing gene expression difference between normal tissues and hepatocellular carcinoma tumors, understanding mutation and genome structure change of hepatocellular carcinoma patients, and then further selecting genes related to the infiltration level of antigen presenting cells from abnormally expressed genes and mutant genes, and the genes having a significant relationship with the overall lifetime and disease-free lifetime of the patient, so as to obtain candidate mRNA vaccine neoantigen targets. Based on the expression level of the target, immunotyping is performed on the patient, and the patient population suitable for the mRNA vaccine is evaluated. Meanwhile, the relationship between the expression level of the target spot and the prognosis of the patient is quantified, so that the probability value that the total survival time of the hepatocellular carcinoma patient reaches 3 years and 5 years is predicted. According to the invention, the hepatocellular carcinoma treatment resistance and tumor immune state can be objectively and accurately evaluated, and the prediction accuracy of hepatocellular carcinoma treatment prognosis is improved.

Compositions and methods for detecting genetic structural variations (SVs) in a gene of interest, involved in disease pathologies commonly found in large Mendelian genomics programs; or for genetic mapping of mobile transposable elements, involved in genetic disease, cancer, and aging are disclosed. The methods include: (i) contacting a sample comprising genomic DNA with a DNA endonuclease for an effective amount of time to cleave the genomic DNA into fragments, the genomic DNA has not been crosslinked, (ii) subjecting the fragments obtained from step (b) to a DNA ligase to obtain circularized DNA, (iii) subjecting the circularized DNA to inverse PCR amplification comprising inverse primers, wherein the inverse primers are designed to align with anticipated wild-type sequences, adjacent to a suspected mutation locus in a gene, and (iv) sequencing the amplified product. Exemplary conditions include Bardet-Biedl syndrome; Severe upper and lower limb defects; Retinitis pigmentosa; Syndromic microcephaly; Spastic paraplegia; and atypical hemolytic uremic syndrome.

This invention discloses a prognostic and therapeutic suitability assessment model for hepatocellular carcinoma (HCC) based on mRNA vaccine antigens, and its construction method. First, the differences in gene expression between normal tissues and HCC tumors are analyzed to understand the mutations and genomic structural changes in HCC patients. Then, genes related to the level of antigen-presenting cell infiltration, as well as genes significantly related to overall survival and disease-free survival, are further selected from anomalously expressed and mutated genes to obtain candidate mRNA vaccine neoantigen targets. Based on the expression levels of these targets, patients are immunophenotyped to assess the patient population suitable for mRNA vaccines. Simultaneously, the relationship between target expression levels and patient prognosis is quantified to predict the probability of HCC patients achieving 3-year and 5-year overall survival. This invention can objectively and accurately assess treatment resistance and tumor immune status in HCC, improving the predictive accuracy of HCC treatment prognosis.

Methods for creating a selector of mutated genomic regions and for using the selector set to analyze genetic alterations in a cell-free nucleic acid sample are provided. The methods can be used to measure tumor-derived nucleic acids in a blood sample from a subject and thus to monitor the progression of disease in the subject. The methods can also be used for cancer screening, cancer diagnosis, cancer prognosis, and cancer therapy designation.

The invention provides a yeast site-directed mutagenesis gene gex1D, a recombinant vector, recombinant bacteria and application of the yeast site-directed mutagenesis gene gex1D, and belongs to the technical field of bioengineering. The nucleotide sequence of the yeast site-directed mutagenesis gene gex1D is shown as SEQ ID NO.1, the amino acid sequence coded by the sequence is shown as SEQ ID NO.2, and the amino acid sequence is obtained by mutating the 613th leucine of the amino acid coded by the gex1 gene into serine. The 613-site leucine of the gex1 gene in the S288C strain is mutated into serine by adopting a site-specific mutagenesis technology, the acid resistance of the site-specific mutagenesis strain DX-2 is obviously improved, and the site-specific mutagenesis strain DX-2 can be used as a potential chassis microorganism for fermenting short-chain organic acids and is particularly suitable for later transformation and production of succinic acid.

The invention discloses a recombinant adenovirus shuttle plasmid and a preparation method thereof, a recombinant adenovirus and an application thereof, and a Japanese encephalitis recombinant adenovirus plasmid, belonging to the field of biomedicine. The Japanese encephalitis recombinant adenovirus shuttle plasmid provided by the invention uses pShuttle as a carrier, carries a Japanese encephalitis virus wild-type E protein gene or a Japanese encephalitis virus E protein mutant gene, the 5' end of the Japanese encephalitis virus wild-type E protein gene or the Japanese encephalitis virus E protein mutant gene is connected to a signal peptide gene, the 5' end of the signal peptide gene is connected to a Kozak sequence, and the 5' end of the Kozak sequence is connected to a restriction site 1. The recombinant shuttle plasmid, recombinant plasmid, and recombinant adenovirus provided by the invention can be applied to the preparation of a Japanese encephalitis virus adenovirus vaccine, and have broad development and application prospects.

Methods for creating a selector of mutated genomic regions and for using the selector set to analyze genetic alterations in a cell-free nucleic acid sample are provided. The methods can be used to measure tumor-derived nucleic acids in a blood sample from a subject and thus to monitor the progression of disease in the subject. The methods can also be used for cancer screening, cancer diagnosis, cancer prognosis, and cancer therapy designation.

The invention discloses a high-sensitivity tumor mutation detection method based on a synergistic primer co-F. The high-sensitivity tumor mutation detection method is mainly based on a synergistic amplification reaction (Co-PCR) of the synergistic primer co-F. Wherein the synergistic primer co-F is formed by connecting a mutation probe modified by azide and a short primer modified by dibenzocyclooctyne (DBCO) through a copper-free click chemical reaction, and comprises two core modules, namely the mutation probe and the short primer. Wherein the mutation probe module is responsible for high-specificity recognition and anchoring of a mutation gene sequence, and the short primer module with a relatively low melting temperature (Tm) value is accurately positioned and hybridized to a position near a target area of a mutation target under the guidance of a correct hybridization mutation target of the mutation probe module, so that amplification is started; meanwhile, the design utilizes the characteristic of low melting temperature of the short primer, so that the short primer cannot independently initiate reaction when the mutation probe module is not combined with the mutation template, thereby inhibiting the non-specific amplification of the wild type template, and finally achieving high-sensitivity and high-selectivity amplification of the mutation DNA.

The application relates to the technical field of genetic engineering, and discloses application of genes NAT2 and NAT3 in improving heat resistance of rice. The genomic DNA sequence of the gene NAT2 is shown as SEQ ID NO. 1, and the genomic DNA sequence of the gene NAT3 is shown as SEQ ID NO. 2. The survival rate of the obtained gene editing plants at the seedling stage and the seed setting rate of the plants at the reproductive stage are improved under high-temperature stress conditions by gene editing mutation of the genes NAT2 and NAT3, and the yield of the rice under extreme high-temperature conditions is protected.

Gene therapy vectors, such as adeno-associated viruses (AAVs), designed for the treatment of mutations in the eukaryotic translation initiation factor 2B subunit epsilon (EIF2B5) gene are provided. The EIF2B5 gene provides instructions for making one of the five subunits of the eIF2B protein, specifically the epsilon subunit of the protein. Such mutations are associated with diseases or disorders such as leukoencephalopathy, macrocephalic leukoencephalopathy, leukodystrophy, stroke, migraine, epilepsy, multiple sclerosis (MS), Parkinson's disease (PD), Alzheimer's disease (AD), astrogliosis in aging, Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), Alexander disease, hepatic encephalopathy (HE), Aicardi-Goutières syndrome, CLC-2-associated disease, oculodentodigital dysplasia, and / or giant axonal neuropathy. Such leukoencephalopathy or leukodystrophies include, but are not limited to, vanishing white matter (VWM). The disclosed gene therapy vector provides EIF2B5 cDNA to a subject in need, which results in the expression of wild-type or functional EIF2B5 protein. Also provided is a new promoter, designated gfa1405, designed to target astrocytes and neurons. Thus, compositions, nanoparticles, extracellular vesicles, exosomes, or vectors comprising the gfa1405 promoter, and methods of use thereof are also provided.

The invention relates to a detection method and system for high-sensitivity detection of solid tumor ctDNA. The method aims at 20 high-incidence solid tumors, and covers high-frequency main clone mutant genes, key genes related to common targeted therapy and genes related to prognosis. The design of the probe library and the kit is used for efficiently and accurately detecting the genes in a human sample through a high-throughput sequencing technology, so that comprehensive gene variation information is obtained. According to the method, the sensitivity and accuracy of solid tumor ctDNA detection can be remarkably improved, and a powerful tool is provided for early diagnosis, curative effect monitoring and prognosis evaluation of tumors.

The invention relates to the technical field of biology, in particular to application of an NtSCL18 gene to bacterial wilt resistance of plants, and the nucleotide sequence of the NtSCL18 gene is as shown in SEQ ID NO: 1. According to the invention, the NtSCL18 gene is subjected to targeted mutation by utilizing a CRISPR / Cas9 technology to obtain a mutant without T-DNA insertion, so that the safety is improved while the bacterial wilt resistance of tobacco is enhanced, and an effective way is provided for rapidly and directionally improving the bacterial wilt resistance of plants.

The invention provides a primer probe composition for detecting Southeast Asia deletion type alpha-thalassemia and application of the primer probe composition, and belongs to the technical field of disease screening. The primer probe composition can be used for detecting samples with the mutation rate as low as 2% and the mutation gene concentration as low as 101 copies / mu L, and is suitable for trace sample analysis. According to the present invention, the Southeast Asia type alpha-thalassemia with the highest carrying rate is adopted as the breakthrough, the total DNA of the non-enriched cervical exfoliated cell sample can be directly extracted, the ddPCR is adopted to perform absolute quantification on the content of the mutant type alpha gene cluster and the wild type alpha gene cluster in the sample, and the ratio is calculated; the purpose of identifying the genotype of fetal thalassemia through an enrichment-free cervical exfoliated cell specimen is achieved by utilizing the proportion. According to the method, indirect inference of the fetal genotype is realized by dynamically analyzing the wild type / deletion type gene proportion and combining the mother genotype.

The invention provides a leukemia gene mutation detection method based on next-generation sequencing transcriptome data, which adopts a next-generation sequencing technology to carry out mutation gene detection on leukemia transcriptome data, and provides an SNV and INDEL detection process based on the transcriptome data so as to improve the positive predicted value of detection. And technical support is provided for precise diagnosis and treatment of leukemia.

This invention relates to the field of agricultural technology, specifically to a mutant Arabidopsis protein and gene that promotes chloroplast development, and their applications. The mutant Arabidopsis protein is the AtMurE protein in wild-type Arabidopsis Sig6 factor-deficient mutants, with mutations occurring at positions 89, 97, 106, 125, 126, 130, or 140. The mutant protein or gene provided by this invention, when introduced into wild-type Arabidopsis Sig6 factor-deficient mutants, can restore chlorophyll content and resolve the cotyledon yellowing problem in wild-type Arabidopsis Sig6 factor-deficient mutants.

The application discloses a gene panel for detecting retinal pigment degeneration and application thereof, the gene panel comprising PRPF31, TFPT, NDUFA3, OSCAR, USH2A, EYS, RPGR, RHO, RP1, ABCA4, RDH12, CRB1, CNGA1, SNRNP200, CERKL, PDE6B, PROM1, CEP290, RP2, CYP4V2, RPE65, PRPF6 and CNGB1. The gene panel comprises PRPF31 and its upstream and downstream genes, and covers high-frequency mutation genes in an RP population. Through high-density probe design on target regions of the genes, not only the detection cost is reduced, but also precise diagnosis of clinical typing of RP and comprehensive genetic evaluation of PRPF31-RP patients can be realized.

Methods for creating a selector of mutated genomic regions and for using the selector set to analyze genetic alterations in a cell-free nucleic acid sample are provided. The methods can be used to measure tumor-derived nucleic acids in a blood sample from a subject and thus to monitor the progression of disease in the subject. The methods can also be used for cancer screening, cancer diagnosis, cancer prognosis, and cancer therapy designation.

The application belongs to the technical field of molecular biology and crop breeding, and particularly relates to a STS marker completely linked with wheat heading stage and plant height, a primer, a distinguishing method and application thereof in breeding. The STS marker completely linked with wheat heading stage and plant height is G base insertion at the 68416769 base of wheat 7D chromosome. The application further provides a primer capable of amplifying the STS marker, and the primer comprises sequences as shown in SEQ ID NO:1 and SEQ ID NO:2 respectively. The STS marker is a functional molecular marker of wheat heading stage and plant height mutation gene, and can be used for molecular marker assisted selection and screening of wheat breeding materials. The site identified by the functional STS marker in the wild type and mutant can be used for improving the heading stage and plant height of wheat through backcross selection.

The invention discloses a disease-causing gene variation site accurate identification method for bioengineering, and relates to the technical field of gene diagnos.The method comprises the steps that a sampling sequence of a sampling gene is obtained, and a sample sequence of the sample gene is obtained; determining the length of the sampling segment and the distance between the adjacent sampling segments; classifying the sampling fragments into sampling variation fragments and sampling non-variation fragments; screening out a target sample gene corresponding to the sampling gene from the sample genes; setting comparison points on the sampling genes and the corresponding target sample genes respectively; comparing to obtain abnormal fragments in the sampled genes; forming a point location interval of the abnormal segment; and obtaining at least one variation site of sampling genes of the same kind. The target sample gene corresponding to the sampling gene is screened out, and the abnormal fragment in the sampling gene and the point location interval forming the abnormal fragment are obtained through comparison, so that the identification difficulty caused by increase or deletion of the basic group of the variant gene can be avoided, and the identification precision is ensured.

The invention relates to the technical field of biomedicine, in particular to a biomarker for AML prognosis typing and application of the biomarker. Wherein the biomarker for the prognostic typing of the AML is a combination of a somatic mutation gene and an AML susceptible site genotype, the somatic mutation gene is selected from DNMT3A, and the AML susceptible site is selected from rs12459419. The combination of somatic mutation genes and AML susceptible site genotypes can further refine AML prognosis risk classification and improve the recognition ability of high-risk patients; meanwhile, prognosis typing of the AML is refined, research and development of specific drug targets for patients with different genotypes are facilitated, and then accurate treatment of the AML is achieved.

The present invention provides a method for rapidly detecting the susceptible gene Siglec14 / 5 and its fusion mutation associated with GBS, namely, adding a first-round PCR amplification primer for the Siglec14 / 5 fusion mutation gene, a second-round qPCR detection primer and probe targeting the fusion mutation gene, and a qPCR detection primer and probe targeting the non-coding region sequence between the wild-type normal Siglec14 and Siglec5 genes to the same tube, and by adjusting the temperature changes of each reaction step of denaturation-annealing-extension, continuously performing two rounds of PCR and qPCR reactions without interfering with each other, and utilizing the difference in fluorescent signals to effectively distinguish the wild type, deletion mutation type, and heterozygous type of the Siglec14 / 5 gene at one time. This application is faster and more convenient to operate than the traditional PCR plus electrophoresis method. The detection process is closed throughout the tube, and aerosol contamination is not easily generated, making it easy to promote on a large scale.

Present invention relates to a virus resistant solanaceous plant, a solanaceous plant cell, and a method for producing the solanaceous plant, and the solanaceous plant has inhibitory properties against: infection by a virus of genus Begomovirus causing tomato yellow leaf curl symptoms, proliferation of the infected virus, and / or expression of infection symptoms. The present invention provides a solanaceous plant having a mutation in at least one gene selected from a group consisting of translation initiation factor eIF4E gene, receptor-like kinase RLK gene, coatomer complex deltaCOP gene, nuclear shuttle protein interactor NSI gene, and genes homologous thereto. The mutation in such a solanaceous plant either inhibits the expression of the mutated gene or makes a protein encoded by the mutated gene to be non-functional for the virus, and the solanaceous plant has virus resistance against the above-mentioned virus.

Methods for creating a selector of mutated genomic regions and for using the selector set to analyze genetic alterations in a cell-free nucleic acid sample are provided. The methods can be used to measure tumor-derived nucleic acids in a blood sample from a subject and thus to monitor the progression of disease in the subject. The methods can also be used for cancer screening, cancer diagnosis, cancer prognosis, and cancer therapy designation.

The invention discloses a probe set for evaluating whole-body tumor load of small cell lung cancer and application of the probe set, the probe set comprises a plurality of oligonucleotide probes for specifically capturing mutation regions of SCLC related genes in a targeted mode, and the genes are selected from TP53, RB1, CREBBP, EGFR, PTEN, PIK3CA, LRP1B and NOTCH1; and the probe set is capable of covering at least 94.9% of at least one mutation existing in an SCLC patient sample. The invention relates to the technical field of biotechnology and molecular diagnosis, and has the beneficial effects that based on a clinical queue, the probe group incorporates high-frequency mutant genes of SCLC, can be superposed with personalized probes for use, and is used for ctDNA detection of SCLC patients and evaluation of whole-body tumor load. The SCLC cancer species specific probe group provided by the invention plays a role in monitoring tumor evolution and new mutation, can overcome the space-time heterogeneity of tumors to a certain extent, and also can improve the capture efficiency at the same time.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an ovarian dysfunction detection panel, a detection kit and application of the ovarian dysfunction detection panel. The detection panel includes mutation genes, copy number variation genes, and rearrangement event and deletion genes associated with ovarian dysfunction (including one or more of hypoovarian reserve function (DOR), premature ovarian insufficiency (POI), polycystic ovarian syndrome (PCOS), and hypogonadotrophy gonadotrophy hypofunction (HH)) for detection. According to the application, the risk of patients suffering from DOR, POI, PCOS and HH and the risk of ovarian dysfunction can be accurately evaluated by detecting the high-risk genes. The method has important guiding significance on clinical diagnosis, risk prediction, genetic counseling and precise treatment of ovarian dysfunction, DOR, POI, PCOS, HH and patients to be treated by an assisted reproduction technology, and improvement of clinical outcome of assisted reproduction.