31 results about "Mutation type" patented technology

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.

The invention discloses an SNP (Single Nucleotide Polymorphism) marker related to the body size and temperature adaptability of worker bees of apis cerana and application of the SNP marker. According to the invention, 25 key SNP sites and 10 associated genes for regulating and controlling the body type and temperature adaptation of the apis cerana are screened by a selection signal analysis method. Research finds that in the second intron region (6452066th site of the chromosome 7 of the bees) of the Foxo gene, the mutation type is T / C, and the mutation type is closely related to the body size and temperature adaptability of the Chinese bees. Through verification, in Hainan apis cerana and Aba apis cerana with extremely different body sizes and living environment temperatures, mutation position genotypes are different, TT is a large-body cold-resistant dominant genotype, and CC / TC is a small-body heat-resistant dominant genotype; a gene expression quantity detection result shows that the expression quantity of the Foxo gene is in negative correlation with a large body type and cold resistance and is in positive correlation with a small body type and heat resistance. The method can be used for genetic improvement of bee body shape characters and has breeding application value.

This invention discloses a set of primers and a high-throughput sequencing method for goose mitochondrial genome sequencing. The method comprises (1) extracting genomic DNA from the goose to be tested; (2) performing PCR amplification using the primer set described in this invention; (3) performing high-throughput sequencing; and (4) obtaining the mutation type and haplotype through detection. This invention provides the application of the PCR primers or the goose mitochondrial genome high-throughput sequencing method described in this invention in detecting different mutation types or haplotypes.

The invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker related to growth traits of siniperca chuatsi, the SNP molecular marker is located at the 268th site of a sequence shown as SEQ ID NO: 1, and the mutation type of the SNP molecular marker is A / G; the allele A in the SNP molecular marker is a preferred gene, and the growth ability of AA and AG genotype individuals containing the allele is obviously superior to that of GG genotype individuals. The invention further discloses a primer and a kit for detecting the SNP molecular marker, and a method for breeding siniperca chuatsi with excellent growth traits. The invention further discloses application of the primer, the kit and the method in breeding siniperca chuatsi with excellent growth traits.

The invention provides a tumor single sample pollution judgment method, a judgment model construction method and an electronic device thereof. The construction method comprises the following steps: S1) marking a pollution-free leukocyte sample as a baseline sample; dividing mutation sites in the baseline sample into different mutation type site sets to obtain a baseline file; s2) recording a plurality of samples under different pollution types and different pollution proportions as training set samples; according to the mutation abundance of each mutation site in the training set sample, performing mathematical model training on the training set sample, removing SNP variation information of a base simple repeat region, a CNV region and an LOH region, and integrating with a baseline file to obtain a judgment model. The method can be used for solving the problem of poor tumor single sample pollution detection effect in the prior art, and is suitable for the field of tumor single sample pollution detection.

The application belongs to the field of biology and particularly relates to a primer blocker composition, a kit, a method for detecting mutation types of beta thalassemia and application thereof. The primer blocker composition comprises a primer group and a blocker, the primer group comprises an upstream primer and a downstream primer, the upstream primer, the downstream primer and the blocker are selected from at least one of combinations I to V, and the blocker is modified with a primary amino group. The specific primer and the blocker are designed based on Gibbs free energy optimization, wild type amplification is selectively inhibited through strict matching of 3' end bases, and high specificity and high sensitivity are shown.

The present disclosure discloses a new Retron editing system and its application in Corynebacterium glutamicum gene editing, specifically discloses a new Retron editing system and demonstrates its application in Corynebacterium glutamicum gene editing, belonging to the technical field of biotechnology and genetic engineering. The new gene editing system provided by the present disclosure is obtained by modifying the existing Retron editing system, which improves the efficiency and capacity of gene editing. The gene editing system of the present disclosure is applied to the construction of a DNA fragment genomic in situ saturation mutation library, which has high construction efficiency, high mutation site coverage and comprehensive mutation types. This method has broad application prospects in the fields of multi-gene editing regulation, DNA regulatory sequence in situ library construction, protein coding gene in situ library construction, enzyme high-throughput screening and the like.

The application discloses an algal toxin degrading enzyme mutant and application thereof, and belongs to the technical field of genetic engineering and enzyme engineering. The algal toxin degrading enzyme mutant is obtained by carrying out unit point mutation on the 32th position of the wild-type algal toxin degrading enzyme amino acid sequence shown in SEQ ID No. 2. The gene engineering bacteria of the mutant algal toxin degrading enzyme obtained by the application can degrade algal toxin, greatly improves the activity and service life of the cell, and meets the requirements of current industrial application.

The invention discloses a pigeon mitochondrial genome high-throughput sequencing method. The method comprises the following steps: (1) extracting genome DNA of a to-be-detected pigeon; (2) carrying out PCR (Polymerase Chain Reaction) amplification through the primer set; (3) carrying out high-throughput sequencing; and (4) detecting to obtain mutation types and haplotypes. The invention provides application of the PCR primer or the pigeon mitochondrial genome high-throughput sequencing method in detection of different mutation types or haplotypes.

This polyhydroxyalkanoate synthase variant exhibits 90% or more sequence identity with the amino acid sequence represented by SEQ ID NO: 1, contains an amino acid sequence having at least one mutation selected from mutation (a) and mutation (b), and has activity for synthesizing a copolymerized polyhydroxyalkanoate containing a 3-hydroxyalkanoic acid monomer unit having 8 carbon atoms. Mutation (a): a mutation in which proline at position 245 from the N-terminus of the amino acid sequence represented by SEQ ID NO: 1 is substituted with an amino acid other than proline. Mutation (b): a mutation in which isoleucine at position 252 from the N-terminus of the amino acid sequence represented by SEQ ID NO: 1 is substituted with an amino acid other than isoleucine.

The present disclosure discloses a library construction method for detecting endometrial cancer-related gene mutations based on high-throughput sequencing, and belongs to the field of biotechnology. The method can detect the mutation types of endometrial cancer-related genes MSH2, PMS2, MLH1, MSH6 EPCAM, TP53, POLE, and PTEN in surgically removed fresh pathological tissues, formaldehyde-fixed and paraffin-embedded pathological tissues, paraffin sections, and specimens of whole blood, plasma, serum, and pleural effusion, etc. It may be used for multiple target sequences in a single tube to quickly complete the library construction. The entire library construction process only takes 3 hours, and the manual operation only needs 30 minutes. Combined with high-throughput sequencing, the platform may effectively solve the current difficulty in the detection of somatic multi-gene all-exon mutations in clinical endometrial cancer samples based on small numbers of clinical samples, and the cost is low.

The present application relates to the field of Raman spectroscopy detection, and discloses a Raman spectroscopy-based glioma IDH mutation detection method and device. The method comprises: performing Raman spectroscopy scanning on a glioma tissue sample under test to obtain Raman spectroscopy data; preprocessing the Raman spectroscopy data to obtain normalized Raman spectroscopy data; extracting intensity values at characteristic shifts from the normalized Raman spectroscopy data; and inputting the intensity values at the characteristic shifts into a classification model to calculate a classification prediction value, wherein the classification model is a multivariate linear equation of the classification prediction value and the intensity values at the characteristic shifts, and the classification prediction value is used for assisting in determining whether the glioma tissue sample under test is of an IDH-mutant type. The present application allows for rapid and accurate detection of the IDH mutation status in gliomas.

The invention discloses an application of a gene LOC-Os07g49460 in increasing the grain length of rice. Belongs to the technical field of gene engineering. According to the application, the function of the LOC-Os07g49460 gene in increasing the grain length is disclosed for the first time, a specific gRNA is constructed by taking the gene as an editing target, the gene is directionally edited to form a mutation type of which the grain length is obviously increased, the mutation generates 403bp large fragment deletion at a first exon and a first intron, and the mutation has a large fragment deletion at a second exon and a second intron. A novel protein sequence is formed, phenotypic investigation shows that the novel protein generated by the mutation type can significantly increase the grain length of rice, and reliable technical support is provided for rapid breeding of long-grain rice varieties.

The invention discloses a protein point mutation effect zero sample prediction system based on self-distillation contrast learning. The system comprises a data import module, a deep neural network model loading module and a mutation effect prediction module. A deep neural network model loaded by the deep neural network model loading module is composed of a feature processor and a feature fusion device, wherein the feature processor comprises a WDB module and an improved Transform module, and the deep neural network model loading module is used for generating deep features highly sensitive to mutation; and a mutation effect prediction module calls the deep neural network model to calculate a log-likelihood difference value of wild-type and mutant amino acids on a mutation site so as to realize efficient zero sample prediction of any unseen protein. According to the method, an innovative deep learning architecture is combined with zero sample prediction, fine adjustment is not needed, and accurate and efficient technical support with more generalization ability is provided for protein engineering and disease mechanism research.

The invention discloses novel hexavalent chromium reductase, and relates to the field of bioengineering and environmental governance, in particular to hexavalent chromium reductase. The novel hexavalent chromium reductase is T11P mutant chromium reductase, and the amino acid sequence of the T11P mutant chromium reductase is as shown in SEQ ID NO: 1. And a gene sequence for coding the T11P mutant chromium reductase is as shown in SEQ ID NO: 3. The novel hexavalent chromium reductase is S12F mutant chromium reductase, and the amino acid sequence of the S12F mutant chromium reductase is as shown in SEQ ID NO: 2. And a gene sequence for coding the S12F mutant chromium reductase is as shown in SEQ ID NO: 4. The gene sequence of the hexavalent chromium reductase is optimized according to the codon preference of colibacilli encoded protein. The optimized hexavalent chromium reductase gene is subjected to point mutation, and the purposes of improving the protein stability and the Cr (VI) reduction efficiency are achieved by adjusting the space structure of the hexavalent chromium reductase gene.

This invention discloses a carbonyl reductase mutant and its application in the synthesis of S-configuration Bosein, belonging to the field of biocatalytic synthesis technology. The carbonyl reductase mutant is based on the carbonyl reductase with the amino acid sequence shown in SEQ ID No. 1, including mutation types F132A, V162A, F132A-N9E, F132A-K36R, and F132A-N9E-K36R. This invention also discloses the nucleic acid molecule encoding the mutant, the expression vector, the genetically engineered strain, and a method for synthesizing S-configuration Bosein using this mutant in combination with isopropanol dehydrogenase. This carbonyl reductase mutant exhibits significantly enhanced enzyme activity and can be adapted to low-cost coenzymes. When synergistically catalyzed with isopropanol dehydrogenase, it can efficiently reduce β-pyruvate xyloside to S-configuration Bosein, with high conversion rate, short reaction time, and high product purity, significantly reducing the production cost of S-configuration Bosein and showing promising industrial application prospects.

This invention discloses a method for multiplex amplification of the duck mitochondrial genome, the method comprising: (1) extracting genomic DNA from the duck to be tested; (2) performing PCR amplification using the primer set described in this invention; (3) performing high-throughput sequencing; and (4) obtaining the mutation type and haplotype through detection. This invention provides the application of the PCR primers or the duck mitochondrial genome multiplex amplification method described in this invention in detecting different mutation types or haplotypes.

This invention belongs to the field of molecular biology detection technology, and provides a primer composition, gDNA, probe, and method for detecting amino acid mutation sites in ALS of Amaranthus retroflexus. This invention is the first to construct a method for detecting multiple resistance mutations at multiple sites based on the synergistic effect of multiplex PCR and PfAgo. Through multiplex PCR amplification and PfAgo specific recognition and cleavage, it achieves simultaneous detection and mutation type identification of multiple resistance target sites in the ALS gene of Amaranthus retroflexus. Based on the multiple constraint mechanism of multiplex PCR amplification, PfAgo guided sequence recognition, and fluorescent probe cleavage, it achieves stepwise identification and verification of target sites, exhibiting excellent specificity, sensitivity, and robustness, reducing the risk of false positives, ensuring accurate and reliable results, and requiring no standards for interpretation. It is suitable for rapid and simultaneous multi-site detection of resistance to ALS inhibitors in Amaranthus retroflexus in the field, is simple to operate, and has low cost, providing technical support for resistance monitoring and precision herbicide management.

This invention discloses a semi-dominant gene for controlling maize plant height. GLK53 This invention relates to and its applications, belonging to the field of maize breeding technology. The invention discovers maize... GLK53 Genetic glk53-1 mutants in GLK53 A G / A point mutation occurs 394 bp downstream of the start codon, resulting in a transcript change from wild-type T2 to mutant T1. The T1 transcript has an extra 9 bases at the end of the second exon, causing the insertion of three amino acids VVR into the Myb DNA-binding domain. This mutation has a semi-dominant inheritance characteristic, increasing maize plant height by 25.84%, the total number of leaves by 3.4, and fresh weight by 15.06%; in F1 hybrids, it still significantly increases plant height by 5.71%–10.07% and fresh weight by 13.26%–15.27%. This invention provides a method based on… glk53-1 The breeding methods and molecular markers for mutant maize can be used to rapidly breed tall maize varieties, which has important application value.

The invention discloses an SNP (Single Nucleotide Polymorphism) site combination of Dongxiang spotted pig breeds and application, and relates to the technical field of biology, the positions and variation information of 64 SNP sites are shown as follows: SNP1 is located at the 17228696bp position of chromosome 1, and the mutation type is C / T; sNP2 is located at the 43181662bp position of the chromosome 1, and the mutation type of SNP2 is A / C; sNP3 is located at the 48369020bp site of the chromosome 1, and the mutation type of SNP3 is T / C; sNP4 is located at the 48974545bp site of the chromosome 1, and the mutation type of SNP4 is T / G; sNP5 is located at the 62781138bp position of the chromosome 1, and the mutation type of SNP5 is T / C; sNP6 is located at the 66381608bp position of the chromosome 1, and the mutation type of SNP6 is C / T; sNP7 is located at the 69733452bp position of the chromosome 1, and the mutation type of SNP7 is G / T; sNP8 is located at the 73832170bp position of the first chromosome, the mutation type of the SNP8 is T / C, SNP9 is located at the 90301543bp position of the first chromosome, and the mutation type of the SNP9 is G / A; the method has the characteristic of wide application range.

The invention discloses a chicken mitochondrial genome high-throughput sequencing method based on multiple PCR (Polymerase Chain Reaction). The method comprises the following steps: (1) extracting genome DNA (Deoxyribose Nucleic Acid) of a chicken to be detected; (2) carrying out PCR (Polymerase Chain Reaction) amplification through the primer set; (3) carrying out high-throughput sequencing; and (4) detecting to obtain mutation types and haplotypes. The invention provides application of the PCR primer or the multiple PCR sequencing method for the chicken mitochondrial genome to detection of different mutation types or haplotype groups.

The invention belongs to the technical field of population genetics and molecular biology, and particularly relates to a primer pair and method for identifying cultured and wild populations of tangut on the basis of SNP markers and application of the primer pair and method. The SNP marker is located at the 996th site of a sequence as shown in SEQ ID NO: 1, the base mutation type of the SNP marker is A / G, two pairs of primers for identifying culture and wild populations of the tangut are designed and comprise a common forward primer F and a reverse primer R, the sequence of the common forward primer F is as shown in SEQ ID NO: 3, and the sequence of the reverse primer R is as shown in SEQ ID NO: 2 and 4. The invention also discloses a method for rapidly identifying the cultured and wild populations of the tangut by using the primer pair or the kit and application of the method. The method makes up the technical blank in the aspects of Tang fish culture and wild population rapid identification, has important value for Tang fish genetic resource management and protection, and can provide technical reference for identification of other fish germplasm sources.

The invention discloses a probe set for capturing prostatic cancer HRR genes. Genome areas captured by the probe set comprise target areas of 45 HRR genes in a table 1. The invention also discloses application of the probe group, and a method for detecting the mutation of the prostatic cancer HRR gene by using the probe group and judging the diallele mutation based on the mutation detection result. By optimizing the coverage degree of a capture area of the probe group, detectable HRR genes and mutation types are increased, and the accuracy of mutation detection is improved, so that the diallele mutation load of a sample can be accurately counted; meanwhile, by optimizing the copy number variation algorithm, the copy number variation detection precision is improved, and copy number deletion detection of one exon level is realized.

The invention belongs to the technical field of gene editing, and relates to application of an expression inhibitor of a BoFBK gene in regulation and control of the height of kale, the BoFBK gene is specifically knocked out in the kale, single plants of different bofbk mutation types are obtained, the plant height is remarkably reduced compared with that of an acceptor material S0836, and the application of the BoFBK gene expression inhibitor in regulation and control of the height of the kale is achieved. Therefore, the invention provides the application of an expression inhibitor of the BoFBK gene in regulating and controlling the height of the kale.

The application discloses a method for creating a double-tail phenotype by using a cytosine single-base editing system to inactivate a goldfish szla gene and application thereof; a target sequence corresponding to sgRNA in the cytosine single-base editing system is shown as SEQ ID NO:1, a guide sequence is shown as SEQ ID NO:4, and a skeleton sequence is shown as SEQ ID NO:5. The method comprises the following steps: (1) obtaining sgRNA of the cytosine single-base editing system; (2) introducing the cytosine single-base editing system; and (3) performing phenotype analysis. The application has the advantages of precise target selection, clear editing result, predictable mutation type, convenient molecular detection and high phenotype induction efficiency, and can be used for precise creation of double-tail goldfish, development function research of a goldfish tail fin and molecular design breeding of ornamental fish.

The application discloses a polypeptide, which is an IQCN protein truncation body and is related to a fertilization failure phenotype. The application first discovers the correlation between the IQCN gene, the IQCN protein truncation body and the male-derived fertilization risk, predicts the fertilization risk according to the mutation position and the mutation type of the IQCN gene or the IQCN protein truncation body, and evaluates the effectiveness of the fertilization process of an assisted reproductive technology; in addition, the IQCN gene mutant and the IQCN protein truncation body can also be used as a diagnostic marker for male-derived fertilization failure and male primary infertility, and are used for the development of a male primary infertility treatment drug, thereby providing a new path for the treatment of male primary infertility.

This invention discloses a kit for detecting SNP molecular markers related to the content of notoginsenoside R1 in Panax notoginseng, and its application in breeding for the trait of notoginsenoside R1 content in Panax notoginseng. The SNP molecular marker is SNP9-188989821, located at base position 188989821 on chromosome 5, with a mutation type of C / G. The KASP primer combination developed in this invention can accurately distinguish between Panax notoginseng with high and low notoginsenoside R1 content, and can be applied to molecular marker-assisted breeding of Panax notoginseng, shortening the breeding cycle of new varieties. Furthermore, the detection cost is low, it is not limited by the environment, and the detection results are highly accurate and easily reproducible. This has important theoretical and practical guiding significance for accelerating the genetic improvement process of breeding Panax notoginseng with high notoginsenoside R1 content and improving breeding selection efficiency.

The application discloses a BHMT gene molecular marker related to Litopenaeus vannamei resistance to hepatopancreatic intestinal coccidiosis and a detection primer and application thereof, and has the characteristics that the molecular marker comprises three SNP sites on the BHMT gene; the nucleotide sequence of the molecular marker A is shown in SEQ ID NO. 1, the mutation type at the 252th base is T>A, the nucleotide sequence of the molecular marker B is shown in SEQ ID NO. 2, the mutation type at the 93th base is C>T, and the nucleotide sequence of the molecular marker C is shown in SEQ ID NO. 2, and the mutation type at the 636th base is G>A; the parent shrimp with the TA genotype of the BHMT-8159 site, the CT genotype of the BHMT-12167 site and the GG genotype of the BHMT-12710 site is selected as the parent shrimp resistant to hepatopancreatic intestinal coccidiosis; and the application has the advantages of good breeding efficiency and accuracy.

The invention belongs to the technical field of tumor drugs, and particularly relates to a TCR (T cell receptor) targeting a polypeptide-HLA-A1101 compound or an antigen binding fragment of the TCR and application of the TCR or the antigen binding fragment. A variable region of the TCR is obtained by mutating a first TCR variable region, and a mutation position and a mutation type are selected from any one of the following mutation positions and mutation types: the mutation position is 29th to 31st sites of an alpha chain variable region, and the mutation type is that DTT mutates into LCL or NSL. According to the present invention, the TCR does not specifically recognize the self epitope peptide SMC1A29-38 besides the excellent functional affinity and the strong recognition ability on the KRASG12D;

The application discloses a gene-phenotype correlation analysis model and a method and application thereof, and belongs to the technical field of biological medicine. The model establishment method comprises the following steps: S1, collecting known trait-gene data to form a gene-trait pair; S2, calculating the rare mutation type score of each gene by using a formula; S3, analyzing the correlation between the mutation score and the trait by linear regression, calculating the weight of each mutation type, and optimizing the weight combination, so that the correlation R 2 is taken as the evaluation standard; S4, calculating the rare mutation load score of a sample gene according to the scoring formula and the optimized weight; S5, analyzing the correlation between the mutation load score and the phenotype by a regression method, and constructing a gene-phenotype correlation analysis model. Compared with a traditional gene-base collapsing method, the model has good reproducibility and complementarity, and can be used for discovering candidate risk genes of new traits or unknown diseases.