9 results about "CYP2D6 Gene" patented technology

The invention relates to the technical field of paliperidone metabolic efficiency evaluation, in particular to a paliperidone metabolic efficiency evaluation system based on a CYP2D6 gene and environmental factors. According to the system, the obtained historical data information is preprocessed, so that more effective data information can be obtained, and a model can be trained more effectively by using the data information; meanwhile, a dynamic metabolism prediction module formed by weighting output of each network in a multi-modal feature fusion module by utilizing a gating attention mechanism is trained based on the preprocessed data, so that a gene-environment-PK / PD multi-dimensional model is obtained, various factors of the environment and the gene can be quantified, and multi-modal data are fused; the dynamic evaluation of the metabolic efficiency is further realized; according to the method, the current data information is scored by using the gene-environment-PK / PD multi-dimensional model, and the score is compared with the preset score, so that whether the model evaluation is qualified or not can be quickly judged, and the model evaluation is adjusted when the model evaluation is unqualified, thereby further improving the evaluation accuracy.

The invention belongs to the technical field of biological detection, and discloses a method for simultaneously detecting large fragment deletion of ACE (Angiotensin Converting Enzyme) and CYP2D6 genes. The kit provided by the invention can simultaneously amplify a plurality of target fragments (such as CYP2D6 gene deletion long fragments and ACE gene deletion short fragments) with obvious size difference under the same system, so that the experimental operation steps are reduced by half, and the detection time is obviously shortened; the reagent cost is saved, and the use amount of an electrophoresis reagent is reduced by half; operation links are reduced, and the risk of sample confusion is reduced.

The invention discloses a CYP2D6 gene rapid detection kit and method, and belongs to the technical field of gene detection.The kit is subpackaged in a PCR tube in a freeze-drying mode and comprises a nucleic acid releasing agent, a freeze-drying reagent for specifically detecting CYP2D65 and CYP2D610 genotypes, a correction product, a positive reference substance and a negative reference substance. The nucleic acid releasing agent is composed of sodium hydroxide, Tween 20, PEG2000, Tris-HCl and water, and nucleic acid in a whole blood sample can be rapidly released. The detection method comprises the steps of nucleic acid release, freeze-drying reagent redissolution, sample adding and detection, PCR reaction program setting, result analysis and the like. The detection can be completed within 1.5 hours through the specific primer and the probe in combination with the fluorescent quantitative PCR technology. According to the invention, the operation process is simplified, the detection cost is reduced, and the detection efficiency and accuracy are improved.

The invention discloses a drug metabolic enzyme CYP2D6 gene detection method based on third-generation sequencing and application of the drug metabolic enzyme CYP2D6 gene detection method. The method comprises the following steps: 1) obtaining a DNA fragment of a CYP2D6 gene in a DNA sample to be detected; the DNA fragment covers the full length of the CYP2D6 gene; (2) sequencing the DNA fragments by adopting a three-generation long-read-long sequencing method to obtain sequencing data; and 3) comparing the sequencing data with a reference genome sequence to obtain the polymorphism or genotype of the CYP2D6 gene in the DNA sample to be detected. According to the present invention, the metabolic conditions of the CYP2D6 gene on various drugs can be accurately analyzed based on the polymorphism of the CYP2D6 gene, the metabolic type and the drug dose of the drug metabolic enzyme of the patient can be accurately grasped, the drug dose can be timely and accurately adjusted for the patient, and the accurate drug treatment of the antipsychotic drug, the antidepressant, the antiarrhythmic drug, the analgesic and the like can be achieved.

The invention discloses a digital PCR detection system, kit and method for detecting single nucleotide polymorphism and copy number variation of a CYP2D6 gene and application, and belongs to the technical field of molecular biology. The method comprises the following steps: designing three pairs of CYP2D6 and reference gene RPP30 specific primers, matching with four locked nucleic acid modified TaqMan fluorescent probes, constructing a single-tube multiple digital PCR detection system, and synchronously and accurately detecting three single nucleotide polymorphisms of CYP2D6 * 10, CYP2D6 * 36 and CYP2D6 * 41 and CYP2D6 * 5 copy number variation; wherein the RPP30 reference gene can synchronously realize sample amplification quality control and target gene absolute quantitative calibration. The detection system depends on the advantages of high specificity of the LNA probe and high sensitivity of digital PCR, the detection sensitivity reaches 0.02 ng / mu L, the detection period is short, and the result is stable and reliable.

The invention provides a method and system for detecting CYP2D6 gene polymorphic typing based on third-generation sequencing, and the method comprises the following steps: carrying out data preprocessing on offline data to obtain HiFi reads; the HiFi reads is compared to the GRCh38 reference genome, and a bam file is obtained; each sequence in the compared bam file is filtered, reads and bam format files which stretch across the upstream of the CYP2D6 gene and the downstream of the CYP2D7 gene and meet a preset coverage depth threshold value are reserved, and a haplotype conclusion is obtained; dividing the alleles into haplotype alleles and distribution star alleles, and performing CYP2D6 gene diallele typing to obtain diplotype gene information; and performing activity scoring to obtain phenotype prediction and inference. According to the method, the information of the CYP2D6 gene can be more accurately obtained, the problem of inaccurate clinical phenotype prediction caused by haplotype typing errors is effectively solved, a reliable basis is provided for pharmacogenomics research, clinical diagnosis and individualized medical treatment, and the development of precise medical treatment is promoted.

The application relates to a primer and a method for CYP2D6 gene typing detection, wherein a CYP2D6 gene fragment is obtained through specific primer PCR amplification; a three-generation sequencing library is constructed from the obtained target PCR product; magnetic bead purification is carried out on the established library; mixed library is carried out on the purified library; the mixed library is taken for machine sequencing; the short board that the traditional sequencing method is not high in accuracy and short in sequencing length is solved; a complete CYP2D6 gene sequence or a missing and recombined sequence can be obtained without assembling, the resolution and the accuracy are effectively improved; new alleles can be completely detected, haplotypes are distinguished, accurate typing is realized, and various types have no place to hide; meanwhile, the detection flux of the scheme is large, multiple samples can be detected at the same time, the experimental process can be automated, and manpower, material resources and financial resources are greatly reduced.

This invention discloses a primer set, test strip, preparation method, and application for detecting CYP2D6*4 allelic variants, belonging to the field of genotyping technology. The primer set specifically amplifies nucleic acid fragments containing SNP sites of the CYP2D6*4 gene based on RFLP-PCR; the SNP sites of the CYP2D6*4 gene include c.1847G>A. This invention, based on RFLP-PCR allelic genotyping, designs a specific primer set for amplification at key sites of the CYP2D6 gene, enabling rapid and visual genotyping of key CYP2D6*4 mutations. Using this primer set for CYP2D6*4 allelic variant detection has advantages such as high detection sensitivity, good specificity, and satisfactory detection rates for both positive and negative samples, making it suitable for widespread application.

The invention belongs to the technical field of attention deficit hyperactivity disorder, and particularly relates to an attention deficit hyperactivity disorder medication guidance gene detection kit and detection system.The detection kit comprises a primer probe combination for detecting the rs1065852 site of a CYP2D6 gene, the rs4532 site of a DRD1 gene, the rs2283265 site of a DRD2 gene, the rs6280 site of a DRD3 gene and the rs2032582 site of an ABCB1 gene; the detection system comprises the kit, a PCR amplification system and a genotyping interpretation system. DNA extracted from a sample is added into a PCR reaction system composed of the kit, and PCR amplification is performed after uniform mixing; the attention deficit hyperactivity disorder 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 attention deficit hyperactivity disorder related drug gene polymorphism can be rapidly and accurately detected.