15 results about "Gene Mutation Type" patented technology

The invention discloses a primer combination for detecting various gene mutation types, a library construction method and application thereof. A specific primer combination system is designed and can be effectively applied to construction of detection libraries of various gene mutation types, and random primers, template replacement primers and random primers carrying universal sequences are utilized; fixed sequences are respectively added at the 3'end and the 5 'end of the cDNA subjected to reverse transcription, so that a target fragment is amplified by a 3' / 5 'gene specific primer and a universal primer, fusion forms of the 5'end and the 3' end of a target gene can be detected at the same time, two types of fusion are amplified separately, mutual interference is reduced, and the accuracy and sensitivity of detection are improved; a DNA target fragment is amplified through a DNA specific primer pair and a universal primer, so that rapid and comprehensive detection of various types of variation in a target fusion gene and DNA can be realized, the operation is simple, the cost is low, and the audience range is wide.

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.

The invention discloses a digital melting PCR multiple detection reagent or kit and method, and belongs to the field of nucleic acid of biotechnology. The technical problem to be solved by the invention is how to improve dPCR multiple detection capability and tumor mutation type detection. The reagent disclosed by the invention contains n probe groups, one probe group is used for identifying the same target spot, each probe is connected with a fluorophore and a quenching group, each probe group contains X probes, the fluorophores connected with the probes in each probe group are different, and X is greater than or equal to 2; marking the fluorophores connected with each probe group as a fluorophore combination, dividing the n probe groups into m probe groups according to the difference of the fluorophore combinations, and m is greater than or equal to 1 and less than or equal to n; the Tm value of at least one probe in each large probe group and the Tm value of at least one probe in each small probe group are different. The digital melting PCR multiple detection reagent disclosed by the invention can be used for detecting more than 20 gene mutation types.

The invention discloses application of disulfiram in preparation of a medicine for treating UMOD gene mutation type autosomal dominant renal tubulointerstitial nephropathy, and belongs to the field of biomedicine. The application comprises the application of the disulfiram in preparation of the medicine for treating the hereditary tubulointerstitial nephropathy. According to the invention, a new pathogenic mutation UMOD c.106Cgt is identified; according to the invention, the pathogenicity of the gene is verified through a UMODH36Y mouse model constructed by CRISPR / Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats / CRISPR associated 9). DSF intervention is adopted, the serum creatinine and glomerular filtration rate (tGFR) of mice can be remarkably improved, and renal interstitial inflammation and fibrosis are relieved. The discovery prompts that the DSF realizes the therapeutic effect of renal function protection-inflammation inhibition-fibrosis relief in an ADTKD-UMOD animal model through targeted regulation of a pyroptosis pathway, a novel therapeutic strategy is provided for ADTKD-UMOD, and the clinical transformation period can be remarkably shortened due to the characteristic of new use of old medicines. The discovery lays an experimental foundation for developing a precise treatment scheme for the hereditary renal tubulointerstitial disease.

The invention discloses a PKD1 and PKD2 amplification primer group, a kit and a gene mutation type detection method, by optimizing primer design sites, interference of pseudogenes in an amplification process can be avoided, a PKD1 gene and a PKD2 gene can be specifically amplified in a single tube, a long fragment is combined with a nanopore sequencing technology, the defect of structural variation detection by NGS sequencing can be overcome, and the detection accuracy is improved. The detection time and cost can be greatly reduced, and polycystic kidney disease detection can be effectively assisted.

The invention provides an OsABCA2 gene mutant and application of the OsABCA2 gene mutant to improvement of brown planthopper resistance of rice, and belongs to the technical field of agricultural biology. In order to improve the brown planthopper resistance of rice, a CRISPR / Cas9 gene editing technology is utilized, and mutation is introduced at a specific position of the OsABCA2 gene, so that a rice plant with the mutation site is obtained. Detection on gene mutation types, insect resistance and phenotypes of the mutant rice shows that the rice containing the OsABCA2 gene mutant has remarkably enhanced resistance in the aspect of resisting brown planthoppers. The application of the gene mutant achieves the purpose of promoting high yield of the rice by improving the insect resistance of the rice, and has great agricultural production potential.

The invention discloses a primer combination and a kit for detecting various gene mutation types and application of the primer combination and the kit. A specific primer combination system is designed, can be effectively applied to construction of detection libraries of various gene mutation types, and is particularly suitable for detection of unknown fusion; fusion forms of 5'and 3 'ends of a target gene can be detected at the same time, and the sequence of the designed template replacement primer and the universal sequence in the random primer with the universal sequence have the same sequence, so that linker sequences at two ends of a by-product during PCR amplification are complementary, intramolecular annealing is performed to form a loop structure, the proportion of RNA full-length by-products is greatly reduced, and the utilization rate of data is remarkably improved; unknown fusion can be accurately detected; meanwhile, DNA template amplification is carried out by utilizing a DNA specific amplification primer pair, a universal primer and a sequencing linker primer pair, so that rapid and comprehensive detection of various types of variation in the fusion gene and DNA is realized; by adding the universal primer into the PCR1, unknown fusion can be detected, the homogeneity of the library can be improved, and the cost can be reduced.

The invention discloses a technology for detecting target nucleic acid and gene mutation by using a Taq DNA polymerase large fragment (Taq KF enzyme) without 5'exonuclease activity, heat-resistant ribonuclease HII (RNase HII), and a Taqman probe or a molecular beacon with an RNA single basic group in the middle. Comprising the following steps: step 1, preparing a Taqman probe or a molecular beacon with an RNA basic group in the middle; 2, establishing a PCR amplification reaction system; 3, carrying out a PCR conventional amplification reaction and a fluorescence signal amplification reaction of target nucleic acid; 4, quantifying the concentration of the target nucleic acid in real time; and 5, determining a gene mutation type. The method has the beneficial effects that compared with the existing nucleic acid detection and gene mutation typing technology based on the conventional Taqman probe or molecular beacon, the method has obvious progress in the aspects of accuracy, sensitivity and the like.

The invention discloses an application of an Os09g0416200 gene in identifying the salt tolerance of rice in a bud stage, and relates to the technical field of biology. According to the invention, SNP (Single Nucleotide Polymorphism) and genes which cause generation of the rice bud-stage salt-tolerant mutant are screened based on a Meta-QTL (Quantitative Trait Locus) method, the Os09g0416200 gene related to the rice bud-stage salt-tolerant mutant is obtained through screening, and a KASP marker verification experiment proves that the mutation type of the Os09g0416200 gene can indeed influence the rice bud-stage salt tolerance. It is proved that the Os09g0416200 gene is related to rice bud stage salt tolerance and can be applied to identification of rice bud stage salt tolerance mutants, and therefore technical support is provided for salt-tolerant rice seed production and crop improvement.

The application discloses a library construction method for simultaneously detecting various gene mutation types of brain tumors, and a composition and application thereof. The sequencing library construction method established by the application is a one-step library construction method, which places DNA mutation and RNA fusion in one PCR reaction system, and optimizes pyrophosphate detection MGMT and FISH detection CNV into an amplicon one-step method, so that DNA level mutation and RNA level fusion can be simultaneously detected. Moreover, after the library construction, QPCR quantification is not needed, and only Qubit quantification is needed, and then direct machine sequencing operation is simple. The application can be applied to rapid, simple and accurate detection of brain tumor basic items.

The present invention provides an OsABCA2 gene mutant and its use in improving rice resistance to brown planthoppers, belonging to the field of agricultural biotechnology. To enhance rice resistance to brown planthoppers, the present invention utilizes CRISPR / Cas9 gene editing technology to introduce a mutation at a specific location in the OsABCA2 gene, thereby obtaining rice plants bearing this mutation. Testing of these mutant rice plants for mutation type, insect resistance, and phenotype revealed that rice plants containing the OsABCA2 gene mutant exhibited significantly enhanced resistance to brown planthoppers. The use of this gene mutant promotes high rice yields by enhancing rice resistance to insects, thus possessing great agricultural production potential.

The invention provides a non-small cell lung cancer data target analysis method, system and device based on CTC, a medium and a program product, and relates to the field of intelligent medical treatment. The method comprises the following steps: acquiring genome data of a to-be-detected person; judging whether a first differential gene in the genome data is mutated or not, and judging a classification result that the to-be-detected person belongs to a gene mutation type or a wild type on the basis of whether the first differential gene is mutated or not; if the to-be-detected person belongs to the classification result of the gene mutation type, judging the typing result of the to-be-detected person belonging to a subtype 1 or a subtype 2 based on the first differential gene, and obtaining a prediction result with poor prognosis or good prognosis of the to-be-detected person according to the typing result; if the to-be-detected person belongs to the typing 1, a result of relatively good prognosis of the to-be-detected person is obtained, and if the to-be-detected person belongs to the typing 2, a result of relatively poor prognosis of the to-be-detected person is obtained.

The present application belongs to the field of genetic engineering, and particularly relates to a natural mutant of a maize wx gene, which has a 12bp insertion at the 301 nucleotide position of the 1st exon relative to the wild type gene, causes a change in the nucleotide sequence, and is a new wx gene mutation type.

The invention discloses an NtPPO gene homozygous mutant and application thereof. The application of the NtPPO gene homozygous mutant comprises the following steps: (1) reducing polyphenol oxidase activity of tobacco leaves; (2) the browning degree of the flue-cured tobacco during baking is reduced; the NtPPO gene mutant comprises mutation types of NtPPO1, NtPPO2, NtPPO3 and NtPPO4, the NtPPO gene mutant comprises mutation types of NtPPO1, NtPPO2, NtPPO3 and NtPPO4, the nucleotide sequence of the NtPPO1 gene mutation type is shown as SEQ ID NO.1, the nucleotide sequence of the NtPPO2 gene mutation type is shown as SEQ ID NO.2, the nucleotide sequence of the NtPPO 3 gene mutation type is shown as SEQ ID NO.3, and the nucleotide sequence of the NtPPO4 gene mutation type is shown as SEQ ID NO.4. The NtPPO gene mutant comprises mutation types of NtPPO1, NtPPO2, NtPPO3 and NtPPO4.

The application relates to a primer group, a kit and a method for detecting a plurality of disease-related gene mutation types. The application can simultaneously detect genetic deafness, thalassemia and spinal muscular atrophy disease-related gene mutation types, only needs one tube, and can simultaneously detect clinically common known pathogenic SNPs, INDELs and copy number variations in one experiment, thereby significantly improving the detection efficiency of the three diseases and the standardization degree of clinical detection. The primer group comprises: 1) a primer for detecting genetic deafness gene mutation types, as shown in SEQ ID NO: 1-30; 2) a primer for detecting thalassemia gene mutation types, as shown in SEQ ID NO: 31-340; 3) a primer for detecting spinal muscular atrophy gene mutation types, as shown in SEQ ID NO: 341-350; and 4) a primer for detecting a beta-actin housekeeping gene, as shown in SEQ ID NO: 351-352.