76 results about "Gene polymorphism" patented technology

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 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 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.

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 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 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 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 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 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 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.

The application relates to the technical field of biological information data analysis, and discloses an intelligent identification method and system for rapid genotyping diagnosis of gene polymorphism. 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, defining a multi-dimensional analysis space of sequence axes, function axes, variation axes and environment correlation axes; performing genotyping identification simulation based on the model to generate a preliminary genotyping strategy; and dynamically optimizing the preliminary genotyping strategy by using a self-adaptive feature selection algorithm to generate a multi-source collaborative genotyping strategy. By means of multi-modal data fusion and self-adaptive optimization, the application improves the efficiency and accuracy of genotyping diagnosis of gene polymorphism, can adapt to different populations and environments, optimizes resource utilization and reduces costs, and has important application value in the fields of biomedical research and disease diagnosis.

The invention provides a primer probe group for noninvasive detection of gene polymorphism of a placenta drug transporter. The primer probe group comprises a primer probe group for detecting c.80G > A polymorphism of an RFC1 gene or / and c.1236Cgt of an ABCB1 gene, a primer probe set of T polymorphism; the method for noninvasive detection of placenta drug transporter gene polymorphism comprises the following steps: taking peripheral blood free DNA (deoxyribonucleic acid) of a pregnant woman in a gestation period as a template, and performing micro-droplet generation and PCR (polymerase chain reaction) amplification by using a primer probe group to obtain an RFC1 gene c.80Ggt; a or / and an ABCB1 gene c.1236Cgt; and carrying out genotype analysis on copy number information of T mutation sites. The invention further provides application of the primer probe set for noninvasive detection of placenta drug transporter gene polymorphism, and the primer probe set is used for preparing a kit for noninvasive detection of placenta drug transporter gene mutation site genotypes. According to the invention, the peripheral blood DNA of the pregnant woman in the gestation period is detected by using digital PCR, the placenta drug transporter gene mutation information is noninvasively obtained, the transplacental transport of the drug and the possible influence on the fetus are evaluated, and an important reference is provided for the treatment decision of the pregnancy complication / complication and the like.

Disclosed is a method of identifying a subject who has or is predisposed to cardiac arrhythmia, the method comprising: a. obtaining a sample from the subject; and b. testing nucleic acid from the sample for the presence or absence of an allele at a single nucleotide polymorphism (SNP) which is CYP2J2*7; wherein the presence of the allele indicates that the subject has or is predisposed to cardiac arrhythmia.

The invention discloses an HLA-DRB1 gene high-resolution typing method based on group specific primers, and belongs to the technical field of gene detection. The group of specific primers are respectively designed according to exons 1-4 of the HLA-DRB1 gene, sequences of the specific primers are shown as SEQ ID NO.1-SEQ ID NO.20, the specific primers have good conservative property on allele sequences of the HLA-DRB1 gene, compared with gene sequences of HLA-DRB3, HLA-DRB4 and HLA-DRB5, the specific primers have good specificity, 1, 2, 3 and 4 exons of the HLA-DRB1 site can be effectively amplified, the corresponding exons are sequenced, and the specific primers can be used for detecting the HLA-DRB1 gene. The polymorphic site of the HLA-DRB1 gene is fully covered. Therefore, when further typing is carried out, the resolution and accuracy of HLA-DRB1 genetic typing are effectively improved, and the ambiguous condition of HLA-DRB1 genetic typing is improved.

This invention relates to the field of medical testing technology, and particularly to primer-probe combinations and kits. This invention provides a method and kit for rapid detection of human CYP2C19 gene polymorphism, specifically involving specific primers, probes, and kits for gene polymorphism detection. The primers and probes include CYP2C19*2 primers and probes, CYP2C19*3 primers and probes, CYP2C19*17 primers and probes, and internal control primers and probes. The primers, probes, and kits of this invention are characterized by high specificity, high sensitivity, and simple operation, and can accurately detect genomic DNA at concentrations as low as 0.1 ng / μL. This invention also provides a detection kit containing specific primers, probes, dNTPs, rTth enzyme, and UDG enzyme for CYP2C19 gene polymorphism detection.

The invention belongs to the technical field of Parkinson's disease medication guidance, and particularly relates to a Parkinson's disease medication guidance gene detection kit and system.The kit comprises primers, probes and inhibitors which are used for detecting polymorphic sites of DRD2, DRD3, SLC22A1, COMT, CA12 and CYP3A4 genes, and the polymorphic sites comprise the rs1799732 site, the rs2283265 site and the rs1076560 site of the DRD2 gene; an rs6280 site of the DRD3 gene; the rs622342 site of the SLC22A1 gene is a rs622342 site; an rs4680 site of a COMT gene; a rs4984241 site of the CA12 gene, a rs484241 The system comprises a PCR reaction system, a PCR amplification system and a genotyping interpretation system which are formed by split charging of the Parkinson's disease medication guidance gene detection kit, the Parkinson's disease medication guidance gene detection kit has the advantages of being high in sensitivity, low in cost, easy and convenient to operate, short in detection period, visual in interpretation and the like, and the Parkinson's disease related drug gene polymorphism can be rapidly and accurately detected.

The invention discloses a primer group and a kit for detecting gene polymorphism of Alzheimer's disease, a method for detecting gene polymorphism and application, the primer group comprises forward and reverse PCR amplification primers aiming at each gene, a target gene segment is amplified through specific PCR, then an amplification product is sequenced by adopting a Sanger sequencing method, and the primer group and the kit are used for detecting the gene polymorphism of Alzheimer's disease. And comparing and analyzing a sequencing result through a software sequence to obtain the base polymorphism information of the target gene.

The invention relates to a deafness gene polymorphism detection primer group, a kit, a detection method and application, and belongs to the technical field of biological detection. Wherein the deafness gene polymorphism detection primer group is MPZL2 c.220Cgt, and the deafness gene polymorphism detection primer group is MPZL2 c.220Cgt; a T gene polymorphism detection primer set; the primer group comprises a forward PCR (Polymerase Chain Reaction) amplification primer and a reverse PCR amplification primer; the forward PCR amplification primer is MPZL2. F, and the nucleotide sequence of the forward PCR amplification primer is as shown in SEQ ID NO. 1; the reverse PCR amplification primer is MPZL2. R, and the nucleotide sequence of the reverse PCR amplification primer is as shown in SEQ ID NO. 2. According to the present invention, the MPZL2 gene polymorphism (wild type C / C, heterozygous C / T and homozygous T / T) can be detected, the detection result can be obtained only through the trace genome DNA, and advantages of high sensitivity, high accuracy, high flux, low cost, short period, short time, low price and the like are provided.

This invention belongs to the field of molecular biology, specifically relating to specific primers for molecular markers of the fertility-related gene HIRA in Ujumqin sheep and their applications. The specific primer sequences for the molecular markers of the fertility-related gene HIRA in Ujumqin sheep are shown in SEQ ID NO.1 and SEQ ID NO.2. This invention designs specific primers to detect the presence of a G→A mutation at 1273 bp in the coding region of the HIRA gene in the Ujumqin sheep genome, determining the genotype of individual Ujumqin sheep at this locus, and realizing the detection of single nucleotide polymorphism (SNP) c.1273G>A in the HIRA gene to compare the polymorphism of HIRA gene c.1273G>A in the Ujumqin sheep breed. This invention utilizes the HIRA gene c.1273G>A polymorphism to assist in the breeding of Ujumqin sheep, increasing the number of lambs born, and can serve as an effective method to assist in improving the multiparity trait of Ujumqin sheep.

The invention relates to a primer probe group, a kit and a detection method for high homocysteine urine disease susceptibility gene detection, and belongs to the technical field of gene polymorphism detection. In order to solve the problems of narrow detection range, insufficient genetic interpretation ability, deficiency of individualized screening strategy and the like in the existing HCU screening technology, the invention provides a primer probe group for high homocysteine urine disease susceptibility gene detection, which comprises a primer probe group for detecting Tgt of CBS gene c.154 site in a detected sample, a primer probe group for detecting CBS gene c.154 site, a primer probe group for detecting CBS gene c.154 site, a primer probe group for detecting CBS gene c.154 site, and a primer probe group for detecting CBS gene c.154 site, c mutation: Ggt at c.457 site; a mutation and Ggt at IVS 13-111 sites; the primer probe group is used for detecting C mutation. Comprehensive and accurate detection of the high homocysteine urinary disease susceptibility gene is realized, a reliable molecular marker is provided for genetic counseling and family management through early risk prediction, accurate diagnosis and individualized intervention, and the molecular marker has important clinical application value in the aspects of improving diagnosis efficiency and sensitivity and improving patient prognosis.

The invention belongs to the technical field of gene sequencing, and particularly relates to a library building kit and a probe for detecting hematologic tumor chemotherapy related gene polymorphism by using a hybrid capture method. According to the present invention, the genotype of the hematologic tumor chemotherapy related gene, the drug treatment effect, the toxicity and the metabolic capability related information can be rapidly obtained through the one-time detection; meanwhile, the library building kit is simple and convenient to operate and short in consumed time, and automatic detection is extremely easy to realize. The detection result completed by using the library building kit is accurate, and the library building kit has important reference significance for treatment and prognosis of hematologic tumor patients needing chemotherapy.

The present invention relates to a method for determining the risk of developing Korean-specific metabolic syndrome by genetic polymorphism analysis, and specifically, to a method for determining single nucleotide polymorphism (SNP) from a biological sample, a biomarker composition for determining metabolic syndrome in Koreans including single nucleotide polymorphism (SNP), and a composition for predicting the risk of developing metabolic syndrome, comprising an agent capable of detecting the biomarker composition. According to the present invention, useful information can be provided for predicting the risk of developing metabolic syndrome in Koreans based on genetic polymorphism analysis.

The invention belongs to the technical field of statins, and particularly relates to a gene detection kit and system for evaluating the medication of statins, the kit comprises primers and probes for detecting the rs4149056 site of an SLCO1B1 gene, the rs2231142 site of an ABCG2 gene and the rs1057910 site of a CYP2C9 gene, the kit also comprises a PCR reaction liquid, a positive quality control product and a negative quality control product, the system comprises a PCR reaction system, a PCR amplification system and a genotyping interpretation system, the PCR reaction system is composed of the gene detection kit for evaluating the medication of statins, the kit and the detection system have the advantages of being high in sensitivity, low in cost, high in specificity, easy and convenient to operate, short in detection period and the like, and individual SLCO1B1, ABCG2 and CYP2C9 gene polymorphism can be rapidly and accurately detected.

The invention belongs to the technical field of molecular biology and in-vitro diagnosis, and particularly discloses an LAMP (loop-mediated isothermal amplification) primer probe composition for detecting folic acid MTHFR (methylenetetrahydrofolate reductase) gene polymorphism, a kit and application of the LAMP primer probe composition. A probe-mediated LAMP melting curve analysis system is constructed, efficient nucleic acid amplification is realized under a constant-temperature condition by utilizing LAMP reaction, and rapid and accurate typing of C677T mutation sites is realized by combining high-specificity discrimination characteristics of a double-labeled probe melting curve. Compared with a traditional method, the method has the advantages of being short in reaction time, high in sensitivity, high in specificity, free of complex instruments and follow-up operation and the like, and is suitable for clinical rapid typing detection and basic molecular diagnosis application.