115 results about "Mutation type" patented technology

The invention is applicable to the technical field of biomedicine, and provides a method and a kit for detecting KCNJ5 gene mutation, and the method comprises the following steps: extracting a cfDNA sample; the method comprises the following steps: carrying out PCR (Polymerase Chain Reaction) amplification reaction by using a specific primer and a probe aiming at a KCNJ5 gene mutation site and taking a sample as a template; the specific primers and probes aiming at the mutation site of the KCNJ5 gene comprise specific primers and probes aiming at the mutation site of the G151R (c.451Ggt; the invention relates to a specific primer and a probe for G151R (c.451Ggt; the invention relates to a specific primer and a probe of L168R (c.503Tgt; C), aiming at L168R (c.503Tgt; g), a specific primer and a probe; sequencing a PCR amplification product, analyzing a sequencing result, and determining whether the KCNJ5 gene mutation exists or not. According to the invention, high-sensitivity and high-specificity detection of KCNJ5 gene mutation is realized by combining the specific primer and the probe with a digital PCR technology, and three main mutation types of the KCNJ5 gene can be detected at 0.01% mutation allele frequency level.

The invention relates to a detection kit for combined methylmalonemia, which is a cb1C type kit and comprises a specific primer pair and a probe combination for detecting at least one mutation site of MMACHC, the mutation site is selected from c.609Ggt; a is c.567 dupT, c.658660delAAG, c.482Ggt, and c.482Ggt; a, c.1Agt; g, c, 80Agt; g, c, 217Cgt; 315Cgt, T, c.315Cgt; g and c.394 Cgt; t). The MMACHC gene hotspot mutation region detection kit based on the real-time fluorescent quantitative PCR technology can detect multiple mutation sites on the MMACHC gene at the same time, detection of three genotypes of wild type, homozygous mutant type and heterozygous mutant type on each mutation site is completed, the gene detection requirements of clinical combined type MMA are effectively met, the detection time is shortened, and the detection efficiency is improved. The mutation site coverage rate of CblC defective methylmalonic acidmia combined with homocysteinemia on the MMACHC gene is increased to 93.28%, mutation hot spots of most people are covered, and various types of mutation conditions in hot spot mutation areas can be rapidly, accurately and sensitively detected.

The invention discloses an application of ARN2966 in the treatment of UMOD (Urban Molecular Orthodontic Disease) gene mutant autosomal dominant hereditary renal tubular interstitial nephropathy (ADTKD), and belongs to the field of biomedicine. The ARN2966 has the advantages that the ARN2966 can be used for the treatment of UMOD gene mutant autosomal dominant hereditary ADTKD, and the ARN2966 can be used for the treatment of UMOD gene mutant autosomal dominant hereditary ADTKD; the application comprises the application of the amyloid precursor protein (APP)-CD74 signal axis blocking agent in the preparation of the medicine for treating the hereditary tubulointerstitial nephropathy, and the application comprises the application of the amyloid precursor protein (APP)-CD74 signal axis blocking agent in the preparation of the medicine for treating the hereditary tubulointerstitial nephropathy. Compared with the prior art, the key effect of an APP-CD74 signal axis in ADTKD-Umod pathogenesis is disclosed for the first time, and ARN2966 provides a brand new intervention strategy for treatment of ADTKD-Umod through targeted regulation and control of the pathway. Compared with a broad-spectrum anti-inflammatory drug, the ARN2966 has high targeting specificity, and side effects caused by non-specific immunosuppression can be avoided. Although the ARN2966 does not enter a clinical research stage at present, due to the unique action mechanism and verified safety characteristics of the ARN2966, the ARN2966 has remarkable transformation medical value and clinical application prospect in the aspect of developing ADTKD-Umod targeted therapeutic drugs.

The invention relates to a PDC (Polycrystalline Diamond Compact) cell carrying a bar code DNA (Deoxyribose Nucleic Acid) tag convenient to track as well as a preparation method and application thereof, and belongs to the technical field of The invention provides an isolated culture method of PDC primary cells, and provides a method for constructing recombinant PDC cells containing bar code DNA tags. According to the PDC primary cell culture system, the cell caking rate is reduced, the cell viability and the adherence rate are improved, and continuous passage to 20 generations or above can be achieved. The PDC primary cells faithfully retain the heterogeneity of clinical tumor samples in the aspects of mutation types, tumor generation and development mechanisms and the like. The bar code DNA tag introduced into the PDC cell can be detected by carrying out targeted sequencing and single cell RNA sequencing on a bar code DNA tag sequence in cell genome DNA, so that different clone groups reserved from PDX of the PDC cell line are conveniently distinguished and tracked in a high-throughput manner.

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 invention provides a high-throughput DNA (deoxyribonucleic acid) detection method, platform, probe composition and kit for hereditary hemoglobinopathy. The high-throughput DNA detection method comprises the following steps: S1, designing probes for detecting known and unknown mutations in abnormal hemoglobinopathy related genes according to a specific rule; s2, synthesizing a probe; s3, extracting genome DNA from peripheral blood of a patient, constructing a library, hybridizing and capturing a target sequence, recovering a target region library, and performing library quality detection; s4, loading the library into a sequencing platform for high-throughput sequencing to obtain sequencing original data; and S5, performing data analysis on the sequencing original data. According to the application, a probe with a special sequence is designed, and sequencing data is subjected to information analysis, so that multiple hemoglobin mutation types can be detected at the same time, the detection efficiency and coverage are greatly improved, missing detection is avoided, and differential diagnosis can be performed on diseases with similar clinical manifestations.

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.

The present invention relates to a plasmonic microarray-based multiple detection kit for genetic mutations, and a multiple detection method for genetic mutations, using same, and, specifically, to a plasmonic microarray-based multiple detection kit for genetic mutations, and a multiple detection method for genetic mutations, using same, the kit comprising: a nucleic acid amplification composition for a target gene; a multi-analysis substrate on which a capture probe for capturing both a wild-type gene and a mutation-type gene of the target gene as nucleic acid amplification products is fixed in an array form on a surface fluorescence amplification substrate; and a fluorescent probe that binds to both the wild-type gene and the mutation-type gene captured by the capture probe, wherein the nucleic acid amplification composition includes: a nucleic acid amplification primer set that can amplify both the wild-type gene and the mutation-type gene of the target gene; and a probe having a quencher that binds to the wild-type gene.

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 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 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 invention discloses a primer combination, a kit and a system for NOTCH2NLC gene detection, the primer combination comprises the following primer combinations: a first group of long-range amplification primer combination, a second group of long-range amplification primer combination, a third group of long-range amplification primer combination and a fourth group of long-range amplification primer combination, the first group of long-range amplification primer combination comprises primers with nucleotide sequences shown as SEQ ID NO: 1 and SEQ ID NO: 2; a second group of long-range amplification primer combination, wherein the second group of long-range amplification primer combination comprises primers with nucleotide sequences as shown in SEQ ID NO: 6 and 7; and a repeated amplification primer combination, the repeated amplification primer combination comprising primers with nucleotide sequences as shown in SEQ ID NO: 3, 4 and 5. The primer combination provided by the invention is obtained through specific screening, the kit and the system based on the primer combination can detect more mutation types, insertion interruption of SNV, GGA and the like, lower-proportion chimerism and higher GGC repetition number can be detected, the operation is simple, and the detection cost is low.

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.

Methods and devices are provided for selecting genetic variants for tumor awareness assays. A method includes receiving a sample collected from a patient, the sample associated with a cancer type; generating a directory of mutations for the sample, the directory of mutations indicating a proportion of genetic mutation types observed in the sample; selecting a set of features associated with the cancer type, the set comprising one or more features, each feature comprising a profile of mutations; determining a set of genetic variants most likely to be a true cell variant associated with the sample based on the set of features and the directory of mutations associated with the type of cancer; and outputting the set of genetic variants for creating a tumor awareness assay for the patient.

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 invention discloses an SNP (Single Nucleotide Polymorphism) molecular marker related to the content of ginsenoside Re in panax notoginseng and application, the SNP molecular marker is SNP10-13886209 and is located at the 13886209th basic group of Chr10 chromosome, and the mutation type of the SNP molecular marker is G / T. The KASP primer combination developed by the invention can accurately distinguish pseudo-ginseng with high ginsenoside Re content from pseudo-ginseng with low ginsenoside Re content, can be applied to pseudo-ginseng molecular-assisted marker breeding and shorten the breeding period of new varieties, and has the advantages of low detection cost, no environmental limitation, high detection result accuracy and easy repetition. The method has important theoretical and practical guiding significance for accelerating the genetic improvement process of panax notoginseng breeding with high ginsenoside Re content and improving the breeding selection efficiency.

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 discloses an SNP (Single Nucleotide Polymorphism) molecular marker related to the content of notoginsenoside R1 and belongs to the technical field of molecular genetic breeding, the SNP molecular marker is SNP5-189414876 and is located at the 189414876th basic group of Chr5 chromosome, and the mutation type of the SNP molecular marker is G / A. The KASP primer combination developed by the invention can accurately distinguish pseudo-ginseng with high and low notoginsenoside R1 content, can be applied to pseudo-ginseng molecular-assisted marker breeding and shorten the breeding period of a new variety, and has the advantages of low detection cost, no environmental limitation, high detection result accuracy and easy repetition. The method has important theoretical and practical guiding significance for accelerating the genetic improvement process of panax notoginseng breeding with high notoginsenoside R1 content and improving the breeding selection efficiency.

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.