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12 results about "Mutation type" patented technology

There are two types of mutations: (i) Gene mutations or point mutations, and (ii) Chromosomal mutations. A chemical change that occurs in the DNA of a cell is called a gene mutations or point mutations.

Multi-modal annotation generated gene mutation prediction method

ActiveCN117497051BData setExon
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.
Owner:LIANGZHU LAB

A goose mitochondrial genome sequencing primer set and high-throughput sequencing method

PendingCN122279047AFull length effective coverageimprove accuracyGeneticsgenomic DNA
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.
Owner:JIANGSU INST OF POULTRY SCI

New retron editing system and its application in gene editing of corynebacterium glutamicum

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.
Owner:TIANJIN INST OF IND BIOTECH CHINESE ACADEMY OF SCI

A carbonyl reductase mutant and its application in the synthesis of S-configuration bosonicine

PendingCN122128261ABacteriaMicroorganism based processesCarbonyl ReductaseEnzyme synthesis
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.
Owner:SHANGHAI ZHONGYI DAILY CHEM CO LTD

A method for multiplex amplification of the mitochondrial genome in domestic ducks

PendingCN122081508Aimprove accuracySolve the problem of insufficient sequencing dataMicrobiological testing/measurementDNA/RNA fragmentationMultiplexgenomic DNA
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.
Owner:JIANGSU INST OF POULTRY SCI

A primer composition, gDNA, probe and method for detecting amino acid mutation sites in amaranthus retroflexus als

PendingCN122303469AEasy to detectImplement mutation type interpretationMultiplexResistance mutation
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.
Owner:INST OF PLANT PROTECTION CHINESE ACAD OF AGRI SCI +1

Semi-dominant gene glk53 for controlling plant height of maize and application thereof

PendingCN122279093ABiotechnologyWild type
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.
Owner:SANYA RESEARCH INSTITUTE OF HAINAN ACADEMY OF AGRICULTURAL SCIENCES (HAINAN EXPERIMENTAL ANIMAL RESEARCH CENTER) +3

A method for creating a double-tail phenotype by using a cytosine single-base editing system to inactivate a goldfish szla gene and application

PendingCN122445647ABiotechnologyCytosine
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.
Owner:BEIJING ACADEMY OF AGRICULTURE & FORESTRY SCIENCES

Kit for detecting male infertility and use

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.
Owner:CENT SOUTH UNIV +1

SNP9-188989821 molecular marker associated with the content of notoginsenoside R1 in Panax notoginseng and its application

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.
Owner:YUNNAN AGRICULTURAL UNIVERSITY

Molecular marker of bhmt gene related to the resistance to hepatopancreatic coccidiosis in penaeus vannamei and detection primer and application thereof

ActiveCN120384137BAnimal scienceNucleotide
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.
Owner:NINGBO UNIV