68 results about "Mutation type" patented technology

The invention relates to an SNP (Single Nucleotide Polymorphism) molecular marker closely linked with a pepper color value character and application of the SNP molecular marker, a nucleotide sequence of the SNP molecular marker comprises at least one of 254720000 base and upstream and downstream bases thereof and 254890442 base and upstream and downstream bases thereof on a pepper chromosome 3, the 254720000 base is marked as R1, the mutation type of the R1 is T or A, and the mutation type of the R1 is T or A; the 254890442nd base is marked as R2, and the mutation type of the 254890442nd base is C or T. The SNP molecular marker provided by the invention can be used for screening and identifying high-color-value pepper varieties, and the molecular marker-assisted selection breeding efficiency of target traits can be accelerated; the SNP molecular marker is directly expressed in the form of DNA, can be detected in each development stage and in different tissues and organs of the pepper, is not limited by environment and seasons, is not influenced by the problems of whether expression or not and the like, and has the advantages of simplicity in operation, accurate amplification result and lower cost of required reagents.

The application belongs to the field of genetic engineering and genetic breeding, and particularly relates to a high-temperature response gene HSP70 expression regulation SNP marker of Crassostrea gigas and application of the SNP marker in identifying high-temperature resistant oyster individuals. The SNP marker is the 251th base in the sequence shown in SEQ ID NO: 2, and the mutation type is C / G (trans-regulation site Marker13973). The application provides a SNP marker which is significantly related to the expression of the HSP70 gene, and the advantage of the application is that the genotype of parent oysters can be identified before seed breeding, and the tolerance of offspring to high-temperature environment is improved. The SNP marker obtained in the research has high reliability and stable results.

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 present application relates to the technical field of in vitro diagnosis, in particular to antibodies of new bunyavirus and application thereof. The present application provides antibodies of new bunyavirus and application thereof. The antibodies of new bunyavirus screened by the present application can specifically bind to new bunyavirus of different mutation types, have high sensitivity and strong specificity, and have good market application prospect. The detection sensitivity of SFTSV is determined by using a double-antibody sandwich method, and the results show that the antibodies of new bunyavirus provided by the present application have a detection sensitivity as low as 0.5 ng / mL, and can be used for early diagnosis and detection of SFTSV.

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.

Methods and apparatus for selecting genetic variants for a tumour-informed assay are provided. The method includes receiving a sample collected from a patient, the sample being associated with a cancer type, generating a mutational catalogue for the sample, the mutational catalogue indicating a proportion of genetic mutation types observed in the sample, selecting a set of signatures associated with the cancer type, the set including one or more signatures, each signature comprising a mutational profile, determining, based on the set of signatures associated with the cancer type and the mutational catalogue, a set of genetic variants most likely to be genuine somatic variants associated with the sample, and outputting the set of genetic variants for use in creating a tumour-informed assay for the patient.

The invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker of a UBE2L6 gene related to multiple immune traits of pigs, the SNP molecular marker is located at the 13366722th basic group on a chromosome 2 of a pig reference genome Sscrofa11.1 version, and the mutation type of the SNP molecular marker is Agt; and G. According to the invention, the key functional SNP for simultaneously regulating and controlling pig cellular immunity and innate immunity is explored for the first time, multiple genetic effects are superposed, the breeding value is huge, and a rapid and accurate detection method can be established.

The application belongs to the technical field of tumor drugs, and particularly relates to a TCR or antigen binding fragment thereof targeting a polypeptide-HLA-A1101 complex and application thereof. The variable region of the TCR is obtained by mutating a first TCR variable region, and the mutation position and mutation type are selected from any one of the following: (1) the mutation position is the 29th to 31st position of the variable region of the alpha chain, and the mutation type is that "DTT" is mutated into "LCL", "NSL", "MFL", "LHL", "HSA", "IQT" or "NDN"; (2) the mutation position is the 98th to 101st position of the variable region of the beta chain, and the mutation type is that "GQNN" is mutated into "ARHN" or "SEHS". The TCR has excellent functional affinity and strong recognition ability to KRASG12D, and does not specifically recognize the self epitope peptide SMC1A29-38.

This invention discloses a SNP marker, detection primers, and applications for genes related to nitrite resistance in Litopenaeus vannamei. The SNP molecular marker is located at the 193bp site of the sequence shown in SEQ ID NO.2, with mutation types of A / A homozygous, G / G homozygous, and A / G heterozygous. Litopenaeus vannamei with the A / A homozygous SNP molecular marker exhibits significantly higher nitrite resistance than those with the G / G homozygous and A / G heterozygous genotypes. This invention accelerates the breeding process of superior nitrite-resistant Litopenaeus vannamei varieties by identifying SNP markers associated with nitrite resistance and applying these markers to establish a marker-assisted breeding method for nitrite resistance in Litopenaeus vannamei.

The application provides a probe composition for detecting genetic cardiovascular diseases and application thereof. The probe composition for detecting genetic cardiovascular diseases comprises 21201 probes which are identical or complementary to the sequences between corresponding sites on chromosomes of a human reference genome hg19. The probe composition for detecting genetic cardiovascular diseases can detect coding regions of 122 genes related to genetic cardiovascular diseases and non-coding regions of 29 genes at one time, realize detection of various mutation types of five types of genetic cardiovascular diseases, i.e. cardiac ion channel diseases, genetic cardiomyopathy, genetic aortic diseases, pulmonary arterial hypertension and familial hypercholesterolemia, the detection content has wide coverage, the detection efficiency is high, and therefore the occurrence and genetic risk of genetic cardiovascular diseases can be comprehensively evaluated, which has important significance for early prevention, early intervention and auxiliary diagnosis.

The invention belongs to the technical field of molecular biology and genetic breeding, and particularly relates to an SNP (Single Nucleotide Polymorphism) marker related to the individual meat percentage character of procambarus clarkii and application. The SNP marker disclosed by the invention is located at the 10593223rd basic group of No.73 chromosome of procambarus clarkii, the mutation type is T / C, and the preferable genotype is TT. The SNP is used for verifying in a procambarus clarkia family, and the SNP in the family is Chr73: 10593223 Tgt; the SNP marker has a significant difference in meat percentage characters, which proves that the SNP marker is suitable for procambarus clarkii individuals, and shows that the SNP marker has an application prospect in procambarus clarkii growth character molecular marker assisted breeding.

The invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker related to the salt tolerance character of siniperca chuatsi, the SNP molecular marker is located at the 182nd site of a sequence as shown in SEQ ID NO: 1, the mutation type of the SNP molecular marker is G / T, and the G allele is a preferred gene. The invention further discloses a primer and a kit for detecting the SNP molecular marker and a method for breeding the siniperca chuatsi with the salt-tolerant character. The invention further discloses application of the primer, the kit and the method in breeding the salt-tolerant siniperca chuatsi.

The invention relates to a high-sensitivity multi-gene joint detection kit. The kit is used for detecting mutation conditions of human BRAF, KRAS, NRAS, HRAS, RET, TERT, TP53 and PIK3CA genes. The primer probe and the amplification system are unique, the 37 mutation types of the 8 genes can be specifically and highly sensitively detected only through 5 ng DNA, and the detection sensitivity is as low as 1%-5%. Compared with the defects that the traditional Sanger sequencing detection sensitivity is low, the number of detection sites of a PCR method is small, NGS operation is complex, and the price is high, the method has obvious advantages in clinical application.

The invention provides a novel human distal bile duct cancer cell line with TP53 missense mutation and application, the novel human distal bile duct cancer cell line CBC3T-3 is established, the cell line is preserved in the China Center for Type Culture Collection (the preservation number is CCTCC NO: C202555), the uniqueness and stability of the cell line are proved through STR typing and karyotype analysis, and the TP53 missense mutation novel human distal bile duct cancer cell line has the advantages that the TP53 missense mutation novel human distal bile duct cancer cell line CBC3T-3 can be used for preparing the TP53 missense mutation novel human distal bile duct cancer cell line CBC3T-3; and a plurality of driver gene mutations including TP53 missense mutation are carried. The CBC3T-3 has strong proliferation, invasion and migration capabilities, has high tumor formation rate in immunodeficient mice, is resistant to cis-platinum and sensitive to paclitaxel and gemcitabine, and provides an experimental basis for selection of clinical chemotherapy regimens. According to the model, the TP53 missense mutation type distal bile duct cancer in-vitro model is successfully established, and a key experimental platform is provided for deeply researching the drug resistance mechanism of the TP53 missense mutation type distal bile duct cancer and developing an individualized treatment strategy aiming at the subtype of the TP53 missense mutation type distal bile duct cancer.

The application discloses application of an RB1 mutant in a neurodegenerative disease. The application finds through experiments that juvenile fish and adult heterozygotes of a zrb1-KO mutant zebrafish (2 bases are deleted at positions 67 and 68 of the 2nd exon of an rb1 gene) exhibit motor and memory learning dysfunction, exhibit increased post-mitotic neuron apoptosis in the hindbrain, and have the characteristics of a neurodegenerative disease, and therefore, the zrb1-KO mutant zebrafish can be used to construct an animal model of a neurodegenerative disease. In addition, the application also statistically analyzes the mutation frequency and mutation type of RB1 of a neurodegenerative disease patient, and verifies the pathogenicity of R621S and L819V mutations of RB1 in neuron apoptosis through experiments, thereby providing an effective approach for diagnosis or treatment of a neurodegenerative disease.

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 discloses a kit and a detection method for beta thalassemia detection based on multiple CRISPR-LbaCas12a, wherein the kit comprises crRNA specific recognition sequences, and the crRNA specific recognition sequences at least comprise SEQ ID NO: 11 for betaCD41-42 / betaN type, SEQ ID NO: 12 and SEQ ID NO: 13 for betaIVS-II-654 / betaN type, SEQ ID NO: 17 for beta-28 / betaN type, SEQ ID NO: 18 for betaCD17 / betaN type, and SEQ ID NO: 19 for betaCD26 / betaN type. The detection kit and the detection method can realize rapid and portable detection of common mutation types of thalassemia.

The present invention relates to an inhibitor having a quinazoline-containing structure for the treatment of cancer. Specifically, the present invention relates to a derivative as represented by formula (I) having a quinazoline-containing structure, and a pharmaceutically acceptable salt thereof. The compound or the salt thereof can simultaneously inhibit a plurality of mutation types of the KRAS proteins, including KRAS G12C, G12D and G12V mutant proteins, and can be used as a KRAS small-molecule inhibitor for treating various diseases caused by KRAS mutations. The present invention relates to the structure of an inhibitor derivative having a quinazoline-containing structure and a preparation method therefor. The present invention further relates to a pharmaceutical composition containing the compound or the salt thereof, and a method for treating diseases related to KRAS mutations by means of using the compound and the salt thereof.

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 invention belongs to the technical field of medicines, and particularly relates to a construction method of a peripheral blood circulating tumor DNA and RNA co-construction library and a kit for detecting tumor mutation. The invention provides a peripheral blood circulating tumor DNA and RNA co-construction library and a construction method thereof. By adopting the ctDNA and ctRNA co-established library, more tumor-derived mutations can be detected, mutation types missed by the ctDNA library are found, and mutation characteristic identification of tumor cells of tumor patients is realized more accurately and sensitively.

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.

A system and a method are described for applying a noise model for predicting the occurrence and a level of noise that is present in cfDNA read information. The significance model is trained for a plurality of stratifications of called variants using training data in the stratification. Stratifications may include a partition and a mutation type. The significance model predicts the likelihood of observing a read frequency for a called variant in view of two distributions of the significance model. The first distribution predicts a likelihood of noise occurrence in the sample. The second distribution predicts a likelihood of observing a magnitude of the read frequency for the called variant. The two distributions may further depend on a baseline noise level of blank samples. With these two distributions, the significance model, for a particular stratification, more accurately predicts the likelihood of a false positive for a called variant.

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 invention belongs to the technical field of biological application, and particularly relates to a mytilus coruscus shell length characteristic related SNP molecular marker and application thereof. The nucleotide sequence of the SNP molecular marker related to the shell length characteristic of mytilus coruscus is as shown in SEQ ID NO: 1, and the mutation type is C / A mutation. The development method of the molecular marker comprises the following steps: collecting a mytilus coruscus sample, measuring phenotypic data of the shell length of the sample, combining with whole genome association analysis, screening out SNP candidate sites obviously associated with the shell length characteristic, designing specific primers, and finally determining the associated SNP marker through two-stage analysis of primary screening and cross-population verification by utilizing PCR amplification and a first-generation sequencing technology. According to the invention, a mytilus coruscus shell length characteristic SNP marking system is established, the cost is greatly reduced compared with that of traditional chip detection, and false positive interference is eliminated through large sample verification. The screening and verification method of the SNP molecular marker can be used for molecular marker-assisted breeding, accelerates breeding of improved varieties of mytilus coruscus, and provides technical support for genetic mechanism analysis of growth traits of mytilus coruscus.

Patients diagnosed with a cancer harboring an IDH-1 mutation can be treated by the administration of a therapeutically effective amount of a pharmaceutical composition comprising Compound 1, a selective inhibitor of 2-HG production from mIDH-1 enzymes including the R132 mutations R132C, R132H, R132L, R132G, and R132S.

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.