138 results about "Gene polymorphism" patented technology

The invention belongs to the technical field of Hu sheep molecular marker-assisted breeding, and particularly relates to application of an AAGAB gene molecular marker g.23443T > C in Hu sheep molecular marker-assisted breeding. According to the invention, Hu sheep is taken as a research object, PCR amplification, direct sequencing of products and sequence analysis are adopted, AAGAB gene polymorphism is analyzed, and correlation between different genotypes of polymorphic sites and different growth traits is comprehensively analyzed. An analysis result shows that g.23443T > C is remarkably related to the chest circumference of Hu sheep and the daily gain of Hu sheep from six-month-old to one-year-old, and the birth weight, weaning weight and six-month-old body weight of CC genotype are remarkably higher than those of TT and TC genotype individuals.

The invention relates to the technical field of biological information data analysis, and discloses an intelligent identification method and system for gene polymorphism rapid typing diagnosis. The method comprises the following steps: acquiring multi-source gene sequencing data and preprocessing to generate a structured gene feature set; constructing a multi-modal data fusion model, and defining a multi-dimensional analysis space of a sequence axis, a function axis, a variation axis and an environment association axis; performing typing recognition simulation based on the model to generate a preliminary typing strategy; and dynamically optimizing by adopting a self-adaptive feature selection algorithm to generate a multi-source collaborative typing strategy. Through multi-modal data fusion and self-adaptive optimization, the efficiency and accuracy of gene polymorphism typing diagnosis are improved, the method can adapt to different crowds and environments, resource utilization is optimized, cost is reduced, and the method has important application value in the fields of biomedical research, disease diagnosis and the like.

The invention discloses a Dazu black goat gene polymorphism and lambing trait association analysis method, and relates to the field of genes. Comprising the following steps: sample collection and data collection: collecting Dazu black goats as well as blood samples and ovary samples of the Dazu black goats, respectively collecting the lambing number and birth weight of the black goats, and then calculating the average birth weight of the first birth and the average lambing number of the first three births; extracting blood DNA, namely extracting the blood DNA by adopting a traditional phenol-chloroform method; designing a PCR primer and an amplification system; and analyzing a population genetic structure, and carrying out genetic analysis and screening on SNP sites of the goat AMH gene. The molecular marker-assisted technology is utilized to screen out the marker of the targeted gene polymorphic site which is strongly related to the breeding traits of the Dazu black goats, the breeding period can be shortened in molecular breeding, the breeding and breeding efficiency can be effectively improved, and the economic value of the Dazu black goats is further improved.

The invention discloses a bull semen quality related SNP molecular marker based on a CCDC89 gene and application of the bull semen quality related SNP molecular marker, and belongs to the technical field of genetic molecular biology, the SNP molecular marker is located at the position of chr29: 9868636 of the bull CCDC89 gene, the gene polymorphism is G or A, and when the SNP site is G, high semen quality is shown. By detecting the polymorphism of the SNP site, the detection of the bull semen quality and the identification of the reproductive performance can be realized, the breeding is assisted, the reliable support is provided for breeding the next generation of high quality, and the SNP site has the advantages of high reliability, high efficiency, low cost and the like.

This invention discloses a molecular marker for superovulation in cattle using the EXOC4 gene and its application method, belonging to the field of animal genetic engineering technology. By conducting correlation analysis between EXOC4 gene polymorphism and the effect of superovulation in cattle, the single nucleotide polymorphism at a specific site of the EXOC4 gene and its accurate identification method were clarified, and the influence of this site's genetic polymorphism on the effect of superovulation in cattle was determined. This provides an important theoretical basis and application prospect for using it as a molecular marker for auxiliary selection of bovine reproductive performance and applying it to genetic improvement in actual production.

The invention relates to a capture probe group, a kit and a sequencing library for detecting polymorphism of related genes of solid tumor chemotherapy drugs and a construction method of the sequencing library, and belongs to the technical field of high-throughput detection. The capture probe group for detecting the polymorphism of the related genes of the solid tumor chemotherapy drugs comprises nucleotide sequences as shown in SEQ ID NO.1 to SEQ ID NO.12; the related genes of the solid tumor chemotherapeutic drugs comprise MTHFR (Methylene Tetrahydrofolate Reductase), TP53, TPMT (Trimethylparaben Methyl Methyl Thiazolyl Tetrazolium), XRCC1 (XRCC1), DPYD ( According to the capture probe group, genotypes of genes related to solid tumor chemotherapy can be rapidly obtained through one-time detection, a sequencing library is constructed on the basis of the genotypes, and related information such as medication prompt, drug curative effect, toxicity and metabolic capacity corresponding to a clinical sample is obtained according to the genotypes of the sequencing library; the kit is simple and convenient to operate, consumes less time and is extremely easy to realize automatic detection.

The invention provides application of an SNP (Single Nucleotide Polymorphism) marker of MIA2 in predicting the curative effect of an antithrombotic drug on thrombus, and belongs to the fields of molecular biology and cardiovascular medicine. According to the application disclosed by the invention, one or more of rs11845046 and rs10134365 of the MIA2 gene is found to be related to the prediction of the curative effect of dabigatran on thrombus for the first time. Gene polymorphism analysis and an ROC curve verify that the curative effect of an NVAF patient after the NVAF patient is treated by using the antithrombotic drug is related to the genotypes of rs11845046 and rs10134365 of the MIA2 gene in a patient sample, and when the genotype of the rs11845046 is GG or the genotype of the rs10134365 is CC, the drug effect of the subject taking the antithrombotic drug is good but the probability of bleeding events is increased.

Methods of treating a condition which is treatable with SSR-125543 or a pharmaceutically acceptable salt thereof in a subject in need thereof are provided. The methods of treatment include predicting a treatment response of a subject to a treatment with SSR-125543 and / or detecting a polymorphism genotype associated with a treatment response of a subject to treatment with SSR-125543. Sets of at least one polymorphism genotype useful in the predicting and / or detecting steps are also disclosed.

The invention relates to application of a PEMT gene-based polymorphic site genotype to prediction of digestive system neogenesis. Specifically, the polymorphic site of the PEMT gene is rs7946, and when a detected object is a carrier of a PEMT rs7946T allele, the disease risk of the digestive system tumor of the detected object is predicted to be low; when the detected object is a PEMT rs7946CC type carrier, it is predicted that the digestive system tumor disease risk of the detected object is high. The invention further provides a kit and a method for predicting digestive system neogenesis based on the polymorphic site genotype of the PEMT gene.

The invention provides a blood concentration prediction model based on artificial intelligence and a construction method and application thereof.A whole blood sample of a patient taking sirolimus is collected, the blood concentration is detected through liquid chromatography tandem mass spectrometry, CYP 3A4 / 5, CYP 2C8 and P-gp gene polymorphism is detected in combination with a high-resolution dissolution curve technology, and the blood concentration prediction model based on artificial intelligence is obtained. And constructing a database containing the multi-dimensional data. And training the database by using an extreme gradient lifting algorithm, establishing a high-precision sirolimus blood concentration artificial intelligence prediction model, and developing a mobile equipment end application to realize remote data acquisition and result display. The model is especially suitable for children with Carboxi-like vascular endothelioma, can dynamically monitor the blood concentration in real time, provides refined guidance for clinical treatment, reduces the treatment cost, and improves the treatment effect and safety.

The present application relates to the field of gene mutation detection, in particular to a gene detection reagent, kit, detection method and application for predicting susceptibility to myopia, comprising specific detection primers and / or fluorescent probes for detecting rs524952, rs148443109, rs75714645, rs7290586, rs188276693 and rs1420853 gene polymorphism detection sites. The present application also discloses a kit comprising the aforementioned reagent and a detection method. The reagent, kit and detection method of the present application can detect the aforementioned six gene sites respectively, and by determining the genotyping of the six gene sites of the patient, the risk population of myopia can be identified through analysis, and the prevention and control of myopia can be guided.

The present invention relates to a composition for alleviating skin irritation caused by vitamin C, and an information providing method for selecting a custom-made substance for alleviating irritation caused by vitamin C, comprising a step of confirming a base of a polymorphic site of a gene polymorphic marker which is significant in relation to the degree of irritation caused by vitamin C. The invention also relates to a composition for alleviating skin irritation caused by vitamin C and an information providing method for selecting the custom-made substance for alleviating irritation caused by vitamin C. Furthermore, the present invention relates to: a composition for diagnosing whether or not a skin type in which skin irritation caused by vitamin C is likely to occur, the composition comprising a probe capable of detecting a gene polymorphism marker having significance in association with skin irritation caused by vitamin C or a preparation capable of amplifying the gene polymorphism marker; a kit or a microarray comprising the composition; and a method for providing information on the type of skin, which is susceptible to skin irritation caused by vitamin C, using the gene polymorphism marker or the combination of markers.

The invention belongs to the technical field of biology, and relates to a primer and a kit for detecting LOX gene polymorphism and application of the primer and the kit, and application of the primer in preparation of a reagent for detecting LOX gene G473A polymorphism or predicting epilepsy susceptibility, and the sequence of the primer is SEQ ID NO.61-62. The invention also relates to application of the primer in preparation of a reagent for detecting LOX gene G473A polymorphism or predicting epilepsy susceptibility. The LOX gene G473A site polymorphism method provided by the invention improves the accuracy of LOX gene G473A typing, is suitable for rapid detection of LOX gene polymorphism, and compared with the prior art, the method provided by the invention can rapidly and accurately carry out DNA sequence analysis, is convenient to construct a standardized operation process, has the characteristics of high throughput and low cost, is extremely simple and convenient to operate, needs a small amount of samples, and is suitable for large-scale popularization and application. The method is beneficial to early screening of LOX gene G473A site mutation related diseases, prevention and judgment of disease prognosis conditions.

The invention belongs to the technical field of molecular biology, and provides a reinforcing agent for improving amplification efficiency of mismatched primers in PCR (polymerase chain reaction), a reaction system and application of the reinforcing agent. The reaction system is a liquid reaction system and comprises a reinforcing agent, Trisma, dNTP (deoxyribonucleoside triphosphate), MgCl2, NH4Cl, KCl, BSA (bovine serum albumin), glycerol, betaine, a specific primer, a DNA (deoxyribonucleic acid) template, DNA polymerase, DMSO (dimethylsulfoxide) and water. The invention also provides an application of the enhancer in gene polymorphism detection by a PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) method. Tetramethylammonium chloride and glutathione in the enhancer have a synergistic effect, so that the binding capacity of a mismatched primer and a DNA template can be remarkably enhanced, the completeness of a mismatched region at the 3'end of the primer is protected, and non-specific amplification is inhibited while the amplification efficiency is improved.

The present invention relates to the field of molecular biology, and more specifically to a composition, kit, and application thereof for detecting ATP7B gene polymorphisms. This method uses a PCR-based fluorescent probe melting curve method to determine common single-nucleotide polymorphisms (SNPs) in the ATP7B gene, a pathogenic gene for hepatolenticular degeneration, in genomic DNA from human peripheral venous whole blood samples. Compared to traditional PCR-based SNP detection methods, this method enables multiplexed detection within a single tube, significantly improving detection throughput. Compared to first- and second-generation sequencing methods and other methods, it offers advantages such as ease of operation, low cost, and shortened detection time.

This invention belongs to the field of gene detection technology, specifically providing a composition, kit, and method for detecting polymorphisms in the human TPMT and NUDT15 genes. The composition of this invention can detect polymorphisms at the rs1800462 (238G>C), rs1800460 (460G>A), and rs1142345 (719A>G) sites of the TPMT gene, and the rs116855232 (415C>T) site of the NUDT15 gene. The amplification arrest mutation system PCR (ARMS-PCR) detection technology can effectively distinguish between wild-type and mutant genes, offering advantages such as high sensitivity and specificity, applicability to various sample types, and short processing time and ease of operation. Using the composition and method of this invention, genomic DNA concentrations as low as 0.5 ng / μL can be detected.

The invention relates to a primer and probe composition, a kit and a method for detecting a polymorphic site of a folate metabolism key enzyme gene. The primer and probe composition comprises at least one of primers and probes aiming at a C677T site of an MTHFR (Methylene Tetrahydrofolate Reductase) gene, an A1298C site of the MTHFR gene and an A66G site of an MTRR (Methylene Tetrahydrofolate Reductase) gene. The primer and the probe can independently realize detection and can be combined in the same reaction system and reaction program for multiple PCR amplification, the primer and the probe aiming at different polymorphic sites do not interfere with each other, Tm values of amplification products aiming at different genotypes of the three polymorphic sites are obviously different, and the Tm values of the amplification products aiming at different genotypes of the three polymorphic sites are obviously different. Therefore, simultaneous detection of the three gene polymorphic sites can be realized, and the method has the advantages of short detection time, high detection sensitivity, good specificity and high accuracy.

The invention belongs to the field of molecular biology, and particularly relates to a specific primer of a molecular marker of a sheep fecundity related gene INHA and application of the specific primer. The specific primer sequences of the molecular marker of the sheep fecundity related gene INHA are as shown in SEQ ID NO. 1 and SEQ ID NO. 2. Specific primers are designed, whether T-C mutation exists at the 180bp position of the 3 'UTR area of the INHA gene in a sheep genome or not is detected, the genotype of a sheep individual at the site is determined, and the mutation of the INHA gene c.* 180Tgt, c.* 180Tgt, c.* 180Tgt, c.* 180Tgt and c.* 180Tgt is detected. Carrying out single nucleotide polymorphism detection on the INHA gene c.* 180 Tgt and C so as to compare the INHA gene c.* 180 Tgt; c, polymorphism in sheep varieties. According to the invention, an INHA gene c.* 180 Tgt is utilized; c polymorphism assists in sheep breeding, the lambing number of the sheep is increased, and the method can be used as an effective method for assisting in improving the multi-fetal character of the sheep.

The invention discloses a PD-1 (programmed death-1) and PD-L1 (programmed death-L1) gene polymorphism detection kit and a use method thereof. The kit is used for detecting an rs34819629 site of a PD-1 gene and an rs2297137 site of a PD-L1 gene, four groups of primer sequences are designed, and the kit further comprises a PCR (Polymerase Chain Reaction) reaction buffer solution, dNTPs (Deoxyribose Nucleic Acid), DNA (Deoxyribonucleic Acid) polymerase and template DNA. The kit disclosed by the invention is an efficient tool for detecting the specific polymorphism of the PD-1 and PD-L1 genes, and has the characteristics of high accuracy, simplicity in operation and capability of supporting personalized medical treatment. Through the detection kit, targeted immunotherapy suggestions can be provided for patients, the effectiveness of immunotherapy is remarkably improved, important gene information is provided for related researches, and development of diabetes immunotherapy is promoted.

The invention belongs to the technical field of Hu sheep molecular marker-assisted breeding, and particularly relates to application of an FABP3 gene molecular marker g.2596A > C in Hu sheep molecular marker-assisted breeding. According to the invention, Hu sheep is taken as a research object, PCR amplification, direct sequencing of products and sequence analysis are adopted, FABP3 gene polymorphism is analyzed, and correlation between different genotypes of polymorphic sites and different growth traits is comprehensively analyzed. An analysis result shows that g.2596A > C is obviously related to the birth weight of Hu sheep, and the birth weight of AA genotype is obviously higher than that of CC genotype (P > 0.05).

The invention discloses a method for rapidly detecting MTHFR (Methylene Tetrahydrofolate Reductase) gene polymorphism based on a complementary probe technology, which comprises the following steps: S1, acquiring a sample: extracting genome DNA (Deoxyribose Nucleic Acid) from a sample to be detected as an amplification template; s2, preparing a reaction system: adding the genome DNA, the upstream primer, the downstream primer, the C probe, the T probe, uracil-N-glycosylase, DNA polymerase, deoxyribonucleoside triphosphate and deoxyuridine triphosphate of the sample to be detected into the reaction system; s3, carrying out PCR (Polymerase Chain Reaction) amplification reaction under the conditions that the temperature is 90-98 DEG C, and the time is 5-20 minutes; performing denaturation at the temperature of 90-98 DEG C for 10-50 seconds; the temperature is 55-69 DEG C, and annealing is conducted for 60-120 s; the temperature is 68-72 DEG C, and extension is carried out for 15-300 s; carrying out 35 to 40 cycles; and S, genotype judgment. A test result is the same as a first-generation sequencing test result, which shows that the detection method of the scheme has relatively high accuracy. Meanwhile, compared with a sequencing method, the method has the advantages that a series of complex follow-up treatment does not need to be carried out on a PCR product, PCR amplification and detection are synchronously carried out, the detection time is greatly shortened, and the detection cost is reduced.

The invention discloses a hypertensive drug gene polymorphism multi-joint detection primer group, a detection method and a kit, and relates to the technical field of molecular diagnosis, the hypertensive drug gene polymorphism multi-joint detection primer group comprises multiple pairs of primers corresponding to each target, and the multiple pairs of primers comprise a first type of primer group and a second type of primer group; the first type of primer group comprises a first upstream primer, a first downstream primer, a wild type fluorescent probe and a mutant type fluorescent probe, the 5'end of the fluorescent probe is marked with a fluorescent reporter group, and the 3 'end of the fluorescent probe is marked with a fluorescent quenching group; the second type of primer group comprises a second upstream primer and a second downstream primer, and the second upstream primer or the second downstream primer is marked with a fluorescence reporter group and a fluorescence quenching group. The application has the effects of improving the detection flux of the gene polymorphism of the hypertensive drug and reducing the interpretation complexity.

The invention discloses an application of PEAR1 gene polymorphism in predicting the bleeding risk of a non-valvular atrial fibrillation patient under the treatment of an antithrombotic drug. The specific related SNP site is rs12407843, further research is carried out in healthy people and NVAF patients, and it is found that when the rs12407843 genotype is GG, the antithrombotic efficacy of a subject taking the antithrombotic drug is better than that of GA and AA carriers, but the probability of bleeding events is increased. The invention further discloses a method, a system and equipment for predicting the curative effect of the antithrombotic drug after thrombus treatment, so that a doctor is assisted in evaluating the treatment effect of a thrombus patient, and a clinician is guided to formulate a personalized treatment scheme for the patient.

This invention relates to the field of gene polymorphism detection technology and discloses a venous thrombosis risk gene detection kit based on LAMP technology. The kit includes primers and probes for detecting polymorphic sites in venous thrombosis risk genes, detection reaction system components, reagent A and reagent B, positive control A, positive control B, and a negative control. Reagent A and reagent B respectively contain matched primers and probes and the detection reaction system components. Reagent A is a 4G, C, AAG, G, or T reaction tube, and reagent B is a corresponding 5G, T, del, A, or C reaction tube. This invention avoids interference between primers and probes by physically isolating reactions of different nucleic acid sequences in independent reagents A and B. Simultaneously, it utilizes polymerase and cresol red to convert changes in system components into color changes, achieving simultaneous visualization and accurate genotyping of multi-target amplification signals without instrument assistance.

The present invention belongs to the technical field of molecular marker-assisted breeding of Hu sheep, and specifically relates to the application of the AAGAB gene molecular marker g.23443T>C in molecular marker-assisted breeding of Hu sheep. The present invention uses Hu sheep as the research object, employs PCR amplification, direct product sequencing, and sequence analysis methods to analyze AAGAB gene polymorphisms, and comprehensively analyzes the correlation between different genotypes at the polymorphic sites and different growth traits. The analysis results show that g.23443T>C is significantly correlated with the chest circumference and daily weight gain of Hu sheep from six months of age to one year old. The birth weight, weaning weight, and six-month-old weight of individuals with the CC genotype are significantly higher than those with the TT and TC genotypes.

The invention belongs to the technical field of biology, and relates to application of a reagent for detecting LOX gene G473A polymorphism in preparation of a kit for predicting epilepsy susceptibility. In a correlation test, the LOX G473A gene polymorphism shows good diagnostic performance (AUC is equal to 0.8143, sensitivity is equal to 74.29%, and specificity is equal to 88.57%) in the aspect of predicting epilepsy susceptibility, and still keeps a good discrimination level (AUC is equal to 0.8158, sensitivity is equal to 84.21%, and specificity is equal to 78.95%) in a verification test, so that the LOX G473A polymorphism can be used as a potential biomarker for clinical diagnosis of epilepsy diseases.

The invention belongs to the field of genetics and plant breeding, and particularly relates to a detection primer for identifying polymorphism of a rice mesocotyl length regulation gene PAO5 and application thereof, and the detection primer in the technical scheme is shown as SEQ ID NO: 1-2. By adopting the detection primers as shown in SEQ ID NO: 1-2, the polymorphism and mesocotyl length type of the rice mesocotyl length regulation gene PAO5 can be rapidly and accurately identified, the polymorphism and mesocotyl length type of the mesocotyl length regulation gene PAO5 in parents, hybridized, backcrossed and selfing offspring can be rapidly identified, rapid and effective breeding of new long mesocotyl rice products is realized, and the breeding efficiency is improved. The important application value is realized on rice cultivation and screening.

The invention relates to the field of molecular biology, in particular to a composition and a kit for detecting COX20 gene polymorphism and application of the composition and the kit. The SNP site of the COX20 gene of genome DNA in a human peripheral vein whole blood sample is determined by an ARMS-PCR fluorescent probe line method, and the genotype is tested and judged by two parallel tubes. Compared with a first-generation and second-generation sequencing method and other methods, the method has the advantages of simplicity in operation, low cost, short detection time and the like.

The present invention discloses a primer and probe combination and a kit for detecting galactose-1-phosphate uridyltransferase gene polymorphism, which relates to the technical field of in vitro detection. The primer and probe combination for detecting galactose-1-phosphate uridyltransferase is detected in two categories, and each category of primer and probe group has 3 primer and probe combinations, which can simultaneously detect 8 mutation sites of the galactose-1-phosphate uridyltransferase gene, shortening the diagnosis time and reducing the detection cost; Taqman probes and MGB probes are used in the same category of primer and probe group, which can better distinguish the Tm values of heterozygous samples, reduce the problems of missed detection or genotype misjudgment, and improve the detection sensitivity and accuracy; In addition, the β-actin gene internal reference is used for quality control, improving the comparability of the detection.

The invention relates to the technical field of knowledge bases, in particular to an anesthetic dosage prediction method and system based on machine learning, and the method comprises the following steps: obtaining preoperative genome data, metabonomics data, intraoperative real-time vital sign data and operating room environment data of a patient, the genome data comprises CYP450 enzyme gene polymorphism data, and the metabonomics data comprises CYP450 enzyme gene polymorphism data; the metabonomics data comprises propofol metabolite concentration data, and the intraoperative real-time vital sign data comprises a BIS value, an MAP value and an HR value; according to the method, a dynamic hypergraph model containing drug nodes, gene nodes, metabolite nodes and environment nodes is constructed, the drug nodes and the gene nodes are connected through hyperedge to represent the regulation and control effect of drug metabolism genes on drug metabolism, the anesthesia safety and effectiveness can be improved, and the urgent clinical requirements for personalized and precise anesthesia are met.