333 results about "Gene Mutant" patented technology

To provide a pharmaceutical composition for treating a cancer patient having a tumor having a total passenger gene mutation amount larger than the background mutation amount of the tumor.SOLUTION: A pharmaceutical composition for treating a subject having a tumor with a total passenger gene mutation load that is greater than the background mutation load of the tumor, wherein the background mutation load has been determined based on randomly selected genes of the tumor, comprising antibodies that bind to PD1 as an active ingredient. Antibodies that bind PD1 comprise a heavy chain variable region (HCVR) comprising the amino acid sequence of SEQ ID NO: 21 and / or comprise a light chain variable region (LCVR) comprising the amino acid sequence of SEQ ID NO: 22.SELECTED DRAWING: Figure 1

The invention belongs to the technical field of plant gene engineering, and particularly relates to an OsNUC1 gene and application of a gene mutant constructed by the OsNUC1 gene to regulation and control of rice plant height, leaf length and panicle type. The regulation is to regulate the plant height and leaf growth of the rice and influence the shape of the ear part. Compared with the prior art, the OsNUC1 gene mutant has the following advantages: (1) the OsNUC1 is directionally edited by utilizing a CRISPR / Cas9 gene editing technology, an OsNUC1 gene mutant rice material is obtained, the biological phenotype of the OsNUC1 gene mutant rice material is investigated, the phenotype investigation on T1-generation seedlings of the OsNUC1 shows that the plant heights and the leaf lengths of one-week-old and two-week-old seedlings of the mutant are obviously higher than those of wild seedlings, the leaf widths have no obvious difference, and the OsNUC1 gene mutant rice material has a good application prospect; the result shows that the OsNUC1 can regulate the plant height and the leaf growth of the rice and influence the shape of the ear part. (2) it is proved that the nucleolin gene OsNUC1 is negatively regulated by a transcription factor OsARF7, and the phenotypes such as the plant height, the leaf length, the grain length and the grain width of the OsNUC1 / OsARF7 mutant are more obvious than those of the OsNUC1 mutant. The invention further proves the application of the OsNUC1 gene in regulation and control of rice plant height and leaf growth.

The invention discloses a quinoa CqARF2 gene mutant as well as an identification method and application thereof. Chenopodium quinoa seeds are mutated on a large scale by utilizing a chemical mutagenic agent EMS, a CqARF2 gene function deletion mutant arf2 is adopted as a quinoa mutant, G at the 1050th site of the CqARF2 gene of the mutant is mutated into A, and amino acid at the 350th site is mutated into a termination codon, so that the translation process of CqARF2 protein is terminated in advance. The chenopodium quinoa CqARF2 gene function deletion mutant arf2 shows remarkable agronomic character improvement, seeds are large and full, compared with a wild type, the hundred-grain weight of the mutant seeds is increased by about 40%, the seed diameter is increased by about 10%, the seed thickness is increased by about 30%, and a certain foundation is laid for breeding new high-yield and high-quality chenopodium quinoa varieties.

The present invention belongs to the technical field of biological prevention and treatment for viral diseases. Disclosed in the present invention are a tomato disease-resistant gene mutant, and the use thereof in the prevention and treatment of ToBRFV. It is found in the present invention that mutating the nucleotide at position 1927 of the coding region sequence of tomato Tm-22 gene from G to A, or mutating the amino acid at position 643 of the LRR domain of a protein that is encoded by tomato Tm-22 gene from glycine to arginine can remarkably reduce the accumulation level of ToBRFV capsid protein (CP). The gene (named Tm-22-Mut5) can serve as a novel ToBRFV resistant gene, and also retains the resistance to TMV, ToMV and ToMMV. The Tm-22-Mut5 and a pre-screened Tm-22-Mut3-1 mutant (tyrosine at position 767 of the LRR domain thereof is mutated to phenylalanine) undergo combinatorial mutagenesis to obtain a mutant Tm-22-Mut6. Analysis shows that the Tm-22-Mut6 can remarkably reduce the accumulation level of the ToBRFV capsid protein. Compared with the pFGCTm-22-Mut3-1 mutant obtained by screening in the previous research and the newly obtained mutant Tm-22-Mut5, the Tm-22-Mut6 has further improved resistance to ToBRFV.

The invention provides application of an OsRTD1 gene in improving drought resistance of rice, and belongs to the technical field of gene engineering and rice drought resistance. The nucleotide sequence of the OsRTD1 gene is as shown in SEQ ID NO: 1, and the amino acid sequence of the protein coded by the OsRTD1 gene is as shown in SEQ ID NO: 2. Compared with a wild plant, the survival rate of the OsRTD1 gene mutant plant osrtd1 under the drought stress of PEG induction and soil dehydration is remarkably improved, the survival rate of the OsRTD1 gene overexpression plant OsRTD1-OE under the drought stress is remarkably reduced, the relative water loss rate of dehydrated leaves is higher, and the survival rate of the OsRTD1 gene overexpression plant OsRTD1-OE under the drought stress is remarkably reduced. The total grain number, the solid grain number, the total grain weight and the like of the OsRTD1 gene mutant plant osrtd1 under the stress of field drought are obviously higher than those of a wild plant. The OsRTD1 gene is a potential candidate new target for regulating and controlling a rice drought resistance mechanism.

The invention relates to the technical field of biology, in particular to a cis-trans typing method for drug-resistant gene mutation EGFR T790M / C797S. The invention provides an EGFR (Epidermal Growth Factor Receptor) T790M / C797S cis-trans typing method based on a locked nucleic acid LNA (Low Nucleic Acid) probe, ultrahigh-specificity DNA (Deoxyribose Nucleic Acid) polymerase and a primer probe combination. The typing method can be used for accurately distinguishing EGFR T790M / C797S double-mutation cis-configuration and trans-configuration; meanwhile, the kit has the advantages of high sensitivity, high specificity, simple steps and low cost, is suitable for detecting low-abundance samples such as circulating tumor DNA (ctDNA) and can meet the clinical rapid detection requirement.

The invention belongs to the technical field of gene detection, and particularly relates to application of a CFTR gene mutation combination, an amplification reagent and a product in preparation of a CF risk assessment product. The CFTR gene mutation combination consists of an intron region mutation combination and an exon region mutation combination, based on the CFTR gene mutation combination, the invention further develops an amplification reagent and a CFTR gene mutation detection product, the amplification reagent and the CFTR gene mutation detection product comprise a primer combination for multiplex PCR amplification of the CFTR gene mutation combination, and the primer combination has the characteristics of high accuracy, high specificity and high sensitivity, can accurately detect related gene mutation, and provides a reliable basis for risk assessment and diagnosis of CF. When the amplification reagent and the CFTR gene mutation detection product are combined with sweat chlorine detection for use, the diagnosis rate of CF can be remarkably improved, and the amplification reagent has important application value in clinical diagnosis of CF and is expected to provide more powerful support for early diagnosis and treatment of CF patients.

The invention is applicable to the technical field of molecular biology, and provides a polypeptide specifically bound with a transferrin receptor, the polypeptide comprises a general formula of H1-H2-E1-E2-H3-H4-E3, and H1, H2, H3 and H4 independently comprise an alpha helical domain; the E1, the E2 and the E3 respectively and independently comprise a beta folding structural domain; when the polypeptide is combined with the hTfR1, transferrin is allowed to be combined to the hTfR1; the polypeptides are capable of binding and delivering oligonucleotides. The invention also provides a recombinant nucleic acid encoding the polypeptide, an expression vector comprising the recombinant nucleic acid, a recombinant host cell comprising the polypeptide, the nucleic acid and / or the expression vector, a conjugate of the polypeptide and oligonucleotide, and a corresponding pharmaceutical composition. The polypeptide disclosed by the invention can be highly specifically combined with hTfR1, so that accurate delivery of oligonucleotide is realized, and a practical basis is provided for treating diseases related to gene mutation.

The present invention discloses a tkt gene mutant and its application in the preparation of L-lysine. The tkt gene mutant disclosed in the present invention is a DNA molecule shown in SEQ ID No.3, 5, 7, 9, 11, and 13 in the sequence table, encoding the protein shown in SEQ ID No.4, 6, 8, 10, 12, and 14, and the wild-type tkt gene is a DNA molecule shown in SEQ ID No.1, encoding the protein shown in SEQ ID No.2. Experiments have shown that the tkt gene and its mutant of the present invention can increase L-lysine production, can be used to produce L-lysine, and have good application prospects.

The invention belongs to the technical field of plant genetic engineering and soybean breeding, and discloses application of a GmCDPKb gene in regulation and control of the number of soybean symbiotic nodules, the nucleotide sequence of the GmCDPKb gene is shown as SEQ ID NO.1, and the amino acid sequence of encoded protein is shown as SEQ ID NO.2. According to the invention, a GmCDPKb gene mutation and overexpression soybean stable genetic transformation plant is constructed, and character investigation shows that the nodulation number of a mutant plant is obviously lower than that of a wild type, and the nodulation number of an overexpression plant is obviously higher than that of the wild type. The result shows that the GmCDPKb gene plays a role in regulating and controlling the number of soybean nodules. The invention reveals that the GmCDPKb gene is a key regulatory factor for regulating the number of soybean root nodules symbiotic nodules, the number of soybean nodules can be stably and obviously regulated by regulating the expression quantity of the gene, and important gene resources and germplasm materials are provided for analyzing a soybean symbiotic nitrogen fixation molecular mechanism and cultivating a new efficient nitrogen fixation soybean variety.

The invention discloses a plant gene function analysis method (FAGEN), and belongs to the technical field of molecular genetics and functional genomics. The method comprises the following steps: constructing a target gene mutant by using a gene editing technology; hybridizing the mutant and the corresponding wild type as a common parent with a plurality of parents with different genetic backgrounds to construct a pair F1 group; an F2 group is obtained through selfing; and determining phenotypic data of target characters of F1 and F2 populations, and comparing phenotypic differences of filial generations of wild types and mutants under different genetic backgrounds to judge the functions of the target genes. The method has the advantages of simplicity in operation, flexibility in design, short construction period and low cost, and gene functions can be efficiently and accurately analyzed under various genetic backgrounds.

Provided are a primer probe set, a method, an agent and a kit which are used for detecting an ESR1 gene mutation on the basis of cfDNA. The primer probe set comprises a primer probe set in a first container and a primer probe set in a second container. The primer probe set in the first container comprises a primer pair specific for ESR1 gene E380Q. The primer probe set in the second container comprises a primer pair specific for ESR1 gene L536H. The primer probe set in the first container further comprises a first specific probe, a second specific probe, and a first blocking probe, and the primer probe set in the second container further comprises a third specific probe and a second blocking probe.

The invention relates to the technical field of biology, in particular to a ZmTCP19 gene mutant and application of the ZmTCP19 gene mutant to regulation and control of the nitrogen utilization rate, the growth amount and the plant height of corn. ZmTCP19 gene mutants (a mutant zmtcp19-1 and a mutant zmtcp19-2) are obtained through a molecular genetics means, the functions of the ZmTCP19 gene mutants are deeply analyzed and identified, and results show that under the condition of low nitrogen, the total fresh weight of the zmtcp19-1 is reduced by 30.33% compared with that of a control group, and under the condition of normal nitrogen, the total fresh weight of the zmtcp19-1 is reduced by 25.54% compared with that of the control group; under the condition of low nitrogen, the total fresh weight of zmtcp19-2 is reduced by 25.19% compared with that of a control group, and under the condition of normal nitrogen, the total fresh weight is reduced by 17.30% compared with that of the control group. Meanwhile, the ZmTCP19 gene mutant can reduce the plant height of the corn and improve the lodging resistance of the corn.

This invention belongs to the fields of locust biotechnology and gene editing technology, specifically relating to a method for preparing locusts. Crz Methods using gene mutants and their application in locust control. This invention discovers that inhibiting gene mutants in locusts... Crz Gene expression can be used to control locusts. Crz The gene sequence is shown in SEQ ID NO:3. This invention successfully established a homozygous Crz mutant strain of the migratory locust using gene editing technology. It was found that the albino migratory locusts obtained after Crz deletion were more easily preyed upon by natural enemies than the wild-type locusts, exhibited significantly lower levels of the aggregation pheromone 4VA, and showed weaker adaptability to low temperatures compared to the wild type. This provides a new strategy for the biological control of migratory locusts and can also serve as a reference for the biological control of other pests.

The invention provides a culter turunx2b gene knockout method and application of the culter turunx2b gene knockout method in creation of intermuscular thorn-free mutants, and belongs to the technical field of gene editing. The invention provides an efficient gene knockout method which comprises the following steps: selecting two targets on a second exon of a culter turunx2b gene as target sites, designing and synthesizing two gRNAs, mixing the gRNAs with Cas9mRNA, introducing the mixture into a fertilized egg of culter turunx2b in an I cell stage in a microinjection manner, hatching, and screening mutated F0-generation culter turunx2b individuals. By utilizing the method disclosed by the invention, the F0-generation knockout efficiency is up to 87.5% under the condition of ensuring that the fertilized eggs are hatched to survive. The method disclosed by the invention is simple and easy to implement and simple to operate, the culter alburnus gene mutation strain can be rapidly obtained by utilizing the gene mutation method, and the method has important scientific significance for developing economic fish gene function research, revealing genetic development law and creating new germplasm.

The invention relates to the field of gene mutation detection, and particularly discloses a POCT (point-of-care testing) detection method for V617F mutation of a human JAK2 gene. According to the method, an integrated detection tube is divided into a cell lysis-nucleic acid binding magnetic bead area, a nucleic acid cleaning area and a nucleic acid elution-amplification area from top to bottom in sequence through a plurality of hydrophobic layers, the cell lysis-nucleic acid binding magnetic bead area is pre-filled with a lysis solution, the nucleic acid cleaning area is pre-filled with a nucleic acid cleaning solution, and the nucleic acid elution-amplification area is pre-filled with a nucleic acid elution solution. A nucleic acid elution-amplification system is pre-installed in the nucleic acid elution-amplification area, in the detection process, only a sample needs to be added into the cell lysis-nucleic acid binding magnetic bead area, a corresponding instrument is inserted, and operation is conducted, so that nucleic acid extraction, amplification and result reporting can be completed, and additional manual processing steps are not needed. The method has the advantages of simplicity and convenience in operation, short time consumption, high sensitivity, strong specificity, low pollution risk and the like, can be directly used for whole blood sample detection, meets the rapid diagnosis requirements of clinical outpatient service, and is particularly suitable for auxiliary diagnosis of BCR-ABL negative myeloproliferative tumors.

To provide exon-skipping oligomer conjugates for muscular dystrophy.SOLUTION: Disclosed is an antisense oligomer conjugate that is complementary to a selected target site of the human dystrophin gene and induces exon 45 skipping. The disclosure relates to a novel antisense oligomer conjugate suitable for exon 45 skipping of the human dystrophin gene and a pharmaceutical composition thereof. The disclosure also provides a method for inducing exon 45 skipping using the novel antisense oligomer conjugate, a method for enabling a subject having a mutation of the dystrophin gene that is amenable to exon 45 skipping to produce dystrophin, and a method for treating a subject having a mutation of the dystrophin gene amenable to exon 45 skipping.SELECTED DRAWING: None

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The present application relates to the technical field of gene mutation prediction, and discloses a gene mutation prediction method generated by multi-mode annotation, and the specific process comprises the following steps: carrying out mutation type annotation on input single-base mutation position information to obtain mutation basic information containing mutation types, then using an ANNOVAR annotation tool, SpliceAI splicing effect prediction software and reference mutation information of a function effect database to carry out multi-dimensional feature annotation, using Bayesian PCA based on the obtained multi-dimensional feature mutation data set to fill in the annotation data, then using an automatic engineering feature list and a separated feature selection list to carry out feature combination and screening, and obtaining a gene mutation prediction score after gradient generation tree algorithm. The present application can be used for predicting all non-synonymous exon mutations, has good performance in classifying rare benign mutations, and can identify a small amount of mutations with high pathogenic probability from a large amount of candidate mutations.

A duchenne muscular dystrophy-related exonic splicing enhancer, sgRNA and gene editing tool can be applied in the preparation of drugs for treating duchenne muscular dystrophy. The gene editing tool designed on the basis of cytosine deaminase AID mutants and Cas9 mutants can perform site-specific modification on a mammalian genome by using an adeno-associated virus (AAV) as a vector. By optimizing an encoding nucleic acid sequence and an element composition structure of the editing tool, site-specific targeted modification of mammalian genetic material DNA can be efficiently achieved; and by performing targeted genetic manipulation on the nucleic acid sequence carrying disease mutations, a pathogenic mutation cannot be retained in a mature protein amino acid sequence or the pathogenic mutation cannot perform its function, so that the purpose of treating various gene mutation type genetic rare diseases is achieved, and the advantages of high efficiency, safety and stability are achieved.

This application belongs to the field of molecular biology technology, specifically relating to nucleic acid combo products, kits for mycobacterial identification, and their applications. This application provides a nucleic acid combo product for mycobacterial detection, comprising one or more primer pairs with nucleotide sequences as shown in SEQ ID NO.1 to SEQ ID NO.244. This specific primer combination can simultaneously detect multiple mycobacteria and distinguish them down to the subspecies level. Through highly specific primer design, this nucleic acid combo product can achieve accurate identification of common clinical mycobacteria (including complex groups, species, and subspecies levels), with a detection sensitivity of 50-100 CFU / mL, significantly superior to the detection performance of existing technologies. Furthermore, the nucleic acid combo product of this application can not only identify the species of mycobacteria but also simultaneously detect drug resistance gene mutations, providing important evidence for the selection of clinical treatment regimens.

A series of independent human-induced non-transgenic mutations found at one or more of the SBEII genes of wheat; wheat plants having these mutations in one or more of their SBEII genes; and a method of creating and finding similar and / or additional mutations of SBEII by screening pooled and / or individual wheat plants. The seeds and flour from the wheat plants of the present invention exhibit an increase in amylose and resistant starch without having the inclusion of foreign nucleic acids in their genomes. Additionally, the wheat plants of the present invention exhibit altered SBEII activity without having the inclusion of foreign nucleic acids in their genomes.

The invention provides a method for screening candidate genes and SNP (Single Nucleotide Polymorphism) loci related to residual feed intake of Sahu hybrid sheep, which is characterized by comprising the following steps: S1, collecting jugular vein blood samples of the Sahu hybrid sheep, and extracting genomic DNA (Deoxyribose Nucleic Acid) of the blood samples for quality detection; the method comprises the following steps: S1, extracting DNA, S2, carrying out whole genome re-sequencing on the extracted DNA and carrying out genotyping to obtain SNP genotype data, and S3, carrying out reference genome comparison, SNP detection and genotype quality control. And S4, carrying out whole genome association analysis on the residual feed intake character of the Sahu hybrid sheep to obtain a significant SNP site. The nucleotide sequence of the SNP site obviously related to the residual feed intake of the Sahu hybrid sheep, which is obtained by the method provided by the invention, is as shown in SEQ ID NO.1, the basic group R at the 51st site of the sequence is A or G, the gene mutation causes the nucleotide of the sequence to generate polymorphism, and when the marker is mutated into G, the Sahu hybrid sheep shows lower residual feed intake.

Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing α-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for α-galactosidase A, wherein the patient has a splice site mutation in intron 4 of the nucleic acid sequence encoding α-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.

The application discloses a novel Rdl gene mutant with V332I mutation, and a method for detecting insect resistance to broflanilide. The gene mutant is characterized in that the base of the amino acid at the 332th position is mutated from GTT, GTC or GTA to ATT, ATC or ATA, and the encoded amino acid sequence is mutated from valine (V) in the wild type to isoleucine (I). The V332I mutation site can be used for molecular detection of insect resistance to broflanilide, and also provides an important reference for research and application of insecticides targeting the gamma-aminobutyric acid receptor encoded by the Rdl gene.

The present application relates to a primer for quantitative detection of V600E mutation in the human BRAF gene based on digital PCR, the primer comprising the nucleotide sequences shown in SEQ ID NO.1, SEQ ID NO.2 and SEQ ID NO.3. Preferably, the probe comprises a wild-type probe of the V600E gene, a mutation site of the V600E gene (c.1799_1800delinsAT), a mutation site of the V600E gene (c.1799_1800delinsAC) and / or a mutation probe of the mutation site of the V600E gene (c.1798_1799delinsAA). The present invention combines the vibration droplet generation digital PCR (dPCR) technology and, through innovative methodological optimization (artificial sequence), demonstrates significant technical advantages and clinical application value in the detection of V600E mutation in the human BRAF gene.

Relates to the technical field of biology, in particular to a primer group, a probe group, a kit and application thereof. The primer group comprises a first primer pair, and the first primer pair comprises a first upstream primer and a first downstream primer; the second primer pair comprises a second upstream primer and a second downstream primer; wherein the first upstream primer has a nucleic acid sequence as shown in SEQ ID NO: 1 or has at least 80% homology with the SEQ ID NO: 1; the first downstream primer has a nucleic acid sequence as shown in SEQ ID NO: 2 or has at least 80% homology with the SEQ ID NO: 2; the second upstream primer has a nucleic acid sequence as shown in SEQ ID NO: 3 or has at least 80% homology with the SEQ ID NO: 3; the second downstream primer has a nucleic acid sequence as shown in SEQ ID NO: 4 or has at least 80% homology with the SEQ ID NO: 4. Based on the specific primer sequence, accurate and stable detection of the sickle cell anemia gene mutation site can be realized.

The application discloses a method for constructing a RP mouse model caused by Prpf6 gene mutation and haploinsufficiency and application thereof, and belongs to the field of molecular biology and biomedical technology. The mouse model constructed by the method provides a convenient, reliable and economical means for studying the relationship between the PRPF6 gene mutation and the retinal pigment degeneration disease and the pathogenic mechanism thereof, and provides a stable hereditary effective research model in the research of the pathogenic mechanism, treatment method and drug screening of RP. The animal model is subjected to transcriptome and a series of type detection, wherein the transcriptome result shows that the retina of the Prpf6 gene knockout mouse has a certain degree of metabolic abnormality, and the results of the electro-physiological detection, fundus examination and H&E staining show that the cell layer of the mouse retina and the shape and function of the retina are damaged, which is consistent with the disease phenotype of RP.

The invention discloses a method for overcoming tobacco distant hybridization lethal and a gene mutant. The invention relates to a gene mutant which is used for mutating an NtHL1 S gene, inhibiting the expression of the NtHL1 S gene and overcoming the death of distant hybridization of tobaccos. The nucleotide sequence of the gene mutant is as shown in SEQ ID NO.3. The expression cassette contains the gene mutant. The recombinant vector contains the gene mutant or the expression cassette. According to the invention, the hybridization lethal phenomenon of common tobacco and African tobacco is overcome by inhibiting the expression of the NtHL1 S gene in the tobacco for the first time. The NtHL1 S gene (LOC138891172) and the protein coded by the NtHL1 S gene (LOC138891172) have not been disclosed in overcoming the cross lethal at present, and have important application value in the aspect of utilization of beneficial characters in wild tobacco germplasm.

The present application provides a TCR targeting a FLT3D835H mutation-derived neoantigen, a nucleic acid molecule comprising a nucleotide sequence encoding the TCR or a complementary sequence thereof, a vector containing the nucleic acid molecule, a cell transduced with the nucleic acid molecule or the vector, a pharmaceutical composition comprising the TCR, the nucleic acid molecule, the vector or the cell as an active ingredient, and use of the TCR, the nucleic acid molecule, the vector, the cell or the pharmaceutical composition in detection, prevention and / or treatment of a cancer related to a FLT3D835H gene mutation-derived neoantigen.