21 results about "Mutation gene" patented technology

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 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.

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 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.

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.

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.

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.

The invention discloses a KASP primer pair for identifying wheat ear types as well as an identification method and application of the KASP primer pair. The KASP primer pair comprises an upstream primer and a downstream primer, wherein the nucleotide sequences of the upstream primer 1 and the upstream primer 2 are respectively as shown in SEQ ID No. 1 and SEQ ID No. 2; and the nucleotide sequence of the downstream primer is as shown in SEQ ID No.3. The KASP marker is a wheat ear type mutant gene functional molecular marker, and the SNP site corresponding to the KASP molecular marker is that G located at the 57941628th basic group of a wheat 1D chromosome is mutated into A. The technical scheme provided by the invention can be used for molecular marker-assisted selection and screening of wheat ear type new materials. The KASP primer pair provided by the invention can be used for simply, conveniently and quickly detecting and identifying the ear type of wheat at high throughput, and the ear type improvement of wheat can be accelerated through backcross selection.

Tomato plants resistant to ToBRFV, TMV, ToMV and ToMMV and the corresponding resistance genes The present invention relates to variants of the TM-2-2 protein which confer recognition of the movement protein (MP) of Tomato Brown Rugose Fruit Virus (ToBRFV) and wherein said variants comprise a tyrosine (Y), phenylalanine (F) or tryptophan (W) at a position corresponding to tyrosine 767 of the TM-2-2 protein and at least one of the following mutations associated with TM-2-2 protein: C848R, N822C, N822F, N822M, N822Y, N822W, S825H, S825K and S825T, possibly in combination with the F655L mutation. The invention also relates to genetic sequences encoding such variant proteins, preferably to mutated Tm-2-2 genes, and to plants, in particular tomato plants, comprising said mutated genes conferring resistance to ToBRFV in their genome. The invention also relates to parts of these plants and progeny and to the use of these sequences for providing ToBRFV resistance.