CN112795632A - Drug metabolizing enzyme and drug action target gene detection method, device and storage medium - Google Patents
Drug metabolizing enzyme and drug action target gene detection method, device and storage medium Download PDFInfo
- Publication number
- CN112795632A CN112795632A CN202011623703.1A CN202011623703A CN112795632A CN 112795632 A CN112795632 A CN 112795632A CN 202011623703 A CN202011623703 A CN 202011623703A CN 112795632 A CN112795632 A CN 112795632A
- Authority
- CN
- China
- Prior art keywords
- sample
- detected
- target gene
- snp
- genotype
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
- 239000003814 drug Substances 0.000 title claims abstract description 133
- 229940079593 drug Drugs 0.000 title claims abstract description 130
- 108090000623 proteins and genes Proteins 0.000 title claims abstract description 101
- 238000001514 detection method Methods 0.000 title claims abstract description 93
- 102000004190 Enzymes Human genes 0.000 title claims abstract description 34
- 108090000790 Enzymes Proteins 0.000 title claims abstract description 34
- 230000009471 action Effects 0.000 title claims abstract description 32
- 238000003860 storage Methods 0.000 title claims description 11
- 238000000034 method Methods 0.000 claims abstract description 27
- 239000000523 sample Substances 0.000 claims description 108
- 239000005552 B01AC04 - Clopidogrel Substances 0.000 claims description 19
- 229960003009 clopidogrel Drugs 0.000 claims description 19
- GKTWGGQPFAXNFI-HNNXBMFYSA-N clopidogrel Chemical compound C1([C@H](N2CC=3C=CSC=3CC2)C(=O)OC)=CC=CC=C1Cl GKTWGGQPFAXNFI-HNNXBMFYSA-N 0.000 claims description 19
- 238000011529 RT qPCR Methods 0.000 claims description 16
- 239000007850 fluorescent dye Substances 0.000 claims description 14
- OVBPIULPVIDEAO-LBPRGKRZSA-N folic acid Chemical compound C=1N=C2NC(N)=NC(=O)C2=NC=1CNC1=CC=C(C(=O)N[C@@H](CCC(O)=O)C(O)=O)C=C1 OVBPIULPVIDEAO-LBPRGKRZSA-N 0.000 claims description 12
- 230000008569 process Effects 0.000 claims description 8
- 230000004544 DNA amplification Effects 0.000 claims description 7
- 230000003321 amplification Effects 0.000 claims description 7
- 230000004069 differentiation Effects 0.000 claims description 7
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 7
- 206010002383 Angina Pectoris Diseases 0.000 claims description 6
- 208000031226 Hyperlipidaemia Diseases 0.000 claims description 6
- OVBPIULPVIDEAO-UHFFFAOYSA-N N-Pteroyl-L-glutaminsaeure Natural products C=1N=C2NC(N)=NC(=O)C2=NC=1CNC1=CC=C(C(=O)NC(CCC(O)=O)C(O)=O)C=C1 OVBPIULPVIDEAO-UHFFFAOYSA-N 0.000 claims description 6
- 229960000304 folic acid Drugs 0.000 claims description 6
- 235000019152 folic acid Nutrition 0.000 claims description 6
- 239000011724 folic acid Substances 0.000 claims description 6
- 229960005080 warfarin Drugs 0.000 claims description 6
- PJVWKTKQMONHTI-UHFFFAOYSA-N warfarin Chemical compound OC=1C2=CC=CC=C2OC(=O)C=1C(CC(=O)C)C1=CC=CC=C1 PJVWKTKQMONHTI-UHFFFAOYSA-N 0.000 claims description 6
- 238000003205 genotyping method Methods 0.000 claims 1
- 238000005070 sampling Methods 0.000 abstract description 13
- 238000011282 treatment Methods 0.000 abstract description 10
- 238000003745 diagnosis Methods 0.000 abstract description 6
- 230000002068 genetic effect Effects 0.000 abstract description 6
- 238000003752 polymerase chain reaction Methods 0.000 description 52
- 230000004060 metabolic process Effects 0.000 description 7
- 239000003153 chemical reaction reagent Substances 0.000 description 6
- 230000006870 function Effects 0.000 description 6
- 238000012408 PCR amplification Methods 0.000 description 4
- 239000006166 lysate Substances 0.000 description 4
- 230000002503 metabolic effect Effects 0.000 description 4
- 238000007664 blowing Methods 0.000 description 3
- 238000004590 computer program Methods 0.000 description 3
- 238000004519 manufacturing process Methods 0.000 description 3
- 239000000203 mixture Substances 0.000 description 3
- 210000002200 mouth mucosa Anatomy 0.000 description 3
- 238000012545 processing Methods 0.000 description 3
- 102000004169 proteins and genes Human genes 0.000 description 3
- 230000000087 stabilizing effect Effects 0.000 description 3
- 208000030453 Drug-Related Side Effects and Adverse reaction Diseases 0.000 description 2
- NIJJYAXOARWZEE-UHFFFAOYSA-N Valproic acid Chemical compound CCCC(C(O)=O)CCC NIJJYAXOARWZEE-UHFFFAOYSA-N 0.000 description 2
- 238000010241 blood sampling Methods 0.000 description 2
- OROGSEYTTFOCAN-DNJOTXNNSA-N codeine Chemical compound C([C@H]1[C@H](N(CC[C@@]112)C)C3)=C[C@H](O)[C@@H]1OC1=C2C3=CC=C1OC OROGSEYTTFOCAN-DNJOTXNNSA-N 0.000 description 2
- 238000001816 cooling Methods 0.000 description 2
- 238000001647 drug administration Methods 0.000 description 2
- 238000010438 heat treatment Methods 0.000 description 2
- 239000007788 liquid Substances 0.000 description 2
- 230000035772 mutation Effects 0.000 description 2
- 230000003287 optical effect Effects 0.000 description 2
- 238000012360 testing method Methods 0.000 description 2
- 102000019057 Cytochrome P-450 CYP2C19 Human genes 0.000 description 1
- 108010026925 Cytochrome P-450 CYP2C19 Proteins 0.000 description 1
- 206010064571 Gene mutation Diseases 0.000 description 1
- 108010010677 Phosphodiesterase I Proteins 0.000 description 1
- 230000009286 beneficial effect Effects 0.000 description 1
- 238000006243 chemical reaction Methods 0.000 description 1
- 229960004126 codeine Drugs 0.000 description 1
- 238000005336 cracking Methods 0.000 description 1
- 238000010586 diagram Methods 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 239000006260 foam Substances 0.000 description 1
- 230000036541 health Effects 0.000 description 1
- OROGSEYTTFOCAN-UHFFFAOYSA-N hydrocodone Natural products C1C(N(CCC234)C)C2C=CC(O)C3OC2=C4C1=CC=C2OC OROGSEYTTFOCAN-UHFFFAOYSA-N 0.000 description 1
- 230000002934 lysing effect Effects 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 238000002156 mixing Methods 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 238000012544 monitoring process Methods 0.000 description 1
- 238000011369 optimal treatment Methods 0.000 description 1
- 230000002974 pharmacogenomic effect Effects 0.000 description 1
- 238000012257 pre-denaturation Methods 0.000 description 1
- 238000010791 quenching Methods 0.000 description 1
- 230000000171 quenching effect Effects 0.000 description 1
- 238000004904 shortening Methods 0.000 description 1
- 239000003381 stabilizer Substances 0.000 description 1
- 239000007858 starting material Substances 0.000 description 1
- 239000008223 sterile water Substances 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 238000011144 upstream manufacturing Methods 0.000 description 1
- 229960000604 valproic acid Drugs 0.000 description 1
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Chemical compound O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 1
Images
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/30—Detection of binding sites or motifs
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/50—Mutagenesis
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
- G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Genetics & Genomics (AREA)
- Organic Chemistry (AREA)
- Biophysics (AREA)
- Analytical Chemistry (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Molecular Biology (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Evolutionary Biology (AREA)
- General Engineering & Computer Science (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
The application discloses a method for detecting drug metabolizing enzyme and drug action target gene, which comprises the following steps: genotype distinguishing step: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected; genotype reading step: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected; a report generation step: and generating a report according to the genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected. According to the method, the individual medication suggestion report is obtained according to the PCR fluorescent signal of the sample to be detected, genetic evidence can be provided for clinically selecting proper drug types and drug doses, the period from sampling to gene detection report issuing is greatly shortened, and the diagnosis and treatment period of medical workers is further shortened.
Description
Technical Field
The application relates to the field of gene detection, in particular to a method, a device and a storage medium for detecting drug metabolizing enzyme and drug action target genes.
Background
About 5000 million inpatients are in China every year, at least 250 million of the inpatients are related to adverse drug reactions, the inefficacy of the existing drugs is very high, and the main factor causing the adverse drug reactions and the ineffectiveness is gene mutation. Pharmacogenomics attracts global high attention, for example, the united states Food and Drug Administration (FDA) issues drug-related gene detection warnings for drugs such as clopidogrel, codeine, valproic acid, etc., and gene detection is performed before use; chinese health council also issued technical guidelines (trial) for the detection of drug metabolizing enzymes and drug action target genes.
However, the conventional gene testing methods require at least several days or even weeks from sampling to reporting, and the patients are likely to miss the optimal treatment time window in the waiting process, or only test the drugs according to the traditional medical experience, and fail to use the most suitable drugs in combination with the genetic traits of the patients at the first time.
How to shorten the detection period of drug metabolizing enzyme and drug action target gene and quickly give corresponding medication guidance is a difficult point of shortening the drug diagnosis and treatment period.
Disclosure of Invention
The purpose of the application is to provide a drug metabolizing enzyme and drug action target gene detection method, a device and a storage medium, so as to quickly give corresponding individual medication guidance suggestions.
In order to achieve the purpose, the following technical scheme is adopted in the application:
the first aspect of the application discloses a drug metabolizing enzyme and drug action target gene detection method, which comprises the following steps:
genotype distinguishing step: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected;
genotype reading step: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected;
a report generation step: and generating a report according to the SNP genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
It should be noted that, the genotype of the detection site is distinguished according to the PCR fluorescent signal of the sample to be detected, the genotype result is interpreted, the SNP site name, the target gene, the reference base, the mutant base, the phenotype information of the sample to be detected and the medication suggestions corresponding to different phenotypes are determined, and a report is automatically generated according to the interpretation result, so as to provide genetic evidence for clinically selecting appropriate drug types and drug doses, greatly shorten the period from sampling to issuing the gene detection report, and further shorten the diagnosis and treatment period of medical workers.
In one implementation manner of the application, in the genotype obtaining step, PCR fluorescent signals corresponding to different sites are obtained, and the base types of the sites are determined according to the types of the PCR fluorescent signals, wherein the PCR fluorescent signals and the base types are in a one-to-one correspondence relationship;
determining SNP genotype of each site according to the base type of each site.
In one implementation manner of the present application, the genotype differentiation step further includes a sample detection step before the genotype differentiation step, and the sample detection step includes:
obtaining a sample DNA to be detected, and determining a detection item and a detection site of the sample DNA to be detected;
carrying out qPCR amplification on a target gene of the DNA of the sample to be detected by adopting a qPCR primer and a fluorescent probe corresponding to the detection item and the detection site;
and collecting PCR fluorescent signals generated in the target gene amplification process.
In one implementation manner of the present application, the detection items include at least one of folic acid, a drug for hyperlipidemia, an anti-angina drug, clopidogrel, and warfarin.
In one implementation of the present application, the PCR fluorescence signal includes a FAM fluorescence signal and a VIC fluorescence signal.
The third aspect of the application also discloses a drug metabolizing enzyme and drug action target gene detection device, the genotype distinguishing module: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected;
genotype read module: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected;
a report generation module: and generating a report according to the genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
In one implementation manner of the present application, in the genotype distinguishing module, distinguishing the SNP genotypes at different sites according to the PCR fluorescent signal of the target gene in the sample to be detected specifically includes:
acquiring PCR fluorescent signals corresponding to different sites, and determining the base types of the sites according to the types of the PCR fluorescent signals, wherein the PCR fluorescent signals and the base types are in one-to-one correspondence;
determining SNP genotype of each site according to the base type of each site.
In one implementation of the present application, the apparatus further includes a sample detection module, the sample detection module is configured to:
obtaining a sample DNA to be detected, and determining a detection item and a detection site of the sample DNA to be detected;
carrying out qPCR amplification on a target gene of the DNA of the sample to be detected by adopting a qPCR primer and a fluorescent probe corresponding to the detection item and the detection site;
collecting PCR fluorescent signals generated in the target gene amplification process;
preferably, the detection items comprise at least one of folic acid, hyperlipidemia medication, angina pectoris medication, clopidogrel and warfarin;
preferably, the PCR fluorescence signal comprises a FAM fluorescence signal and a VIC fluorescence signal.
The third aspect of the application also comprises a drug metabolizing enzyme and drug action target gene detection device, which comprises a memory and a processor;
a memory including a memory for storing a program;
and a processor including a program for implementing the above drug metabolizing enzyme and drug action target gene detection method by executing the program stored in the memory.
The fourth aspect of the present application also discloses a computer-readable storage medium in which a program is stored, the program being executable by a processor to implement the above drug metabolizing enzyme and drug action target gene detection method.
Due to the adoption of the technical scheme, the beneficial effects of the application are as follows:
the method distinguishes the genotypes of the detection sites according to the PCR fluorescent signals of the samples to be detected, decodes the genotype results, determines the SNP site names, target genes, reference bases, mutant bases, phenotype information and medication suggestions corresponding to different phenotypes of the samples to be detected, automatically generates reports according to the decoding results, can provide genetic evidence for clinically selecting proper drug types and drug doses, greatly shortens the period from sampling to gene detection report issuing, and further shortens the diagnosis and treatment period of medical workers; meanwhile, individual medication suggestions are directly obtained according to the genetic material characteristics of patients, and the traditional medication treatment method is optimized, so that the safety and effectiveness of the medicine use can be improved in an auxiliary clinical mode.
Drawings
FIG. 1 is a flow chart of a method for detecting drug metabolizing enzyme and drug action target genes according to the present application;
FIG. 2 is a block diagram of the structure of a drug metabolizing enzyme and drug action target gene detection device provided in the embodiment of the present application.
Detailed Description
The present application will be described in further detail with reference to specific embodiments. In the following description, numerous details are set forth in order to provide a better understanding of the present application. However, those skilled in the art will readily recognize that some of the features may be omitted or replaced with other elements, materials, methods in different instances. In some instances, certain operations related to the present application have not been shown or described in detail in order to avoid obscuring the core of the present application from excessive description, and it is not necessary for those skilled in the art to describe these operations in detail, so that they may be fully understood from the description in the specification and the general knowledge in the art.
Furthermore, the features, operations, or characteristics described in the specification may be combined in any suitable manner to form various embodiments. Also, the various steps or actions in the method descriptions may be transposed or transposed in order, as will be apparent to one of ordinary skill in the art. Thus, the various sequences in the specification are for the purpose of clearly describing one embodiment only and are not meant to be necessarily order unless otherwise indicated where a certain order must be followed.
As shown in fig. 1, this embodiment provides a method for detecting a drug metabolizing enzyme and a drug action target gene, comprising:
s201, genotype distinguishing step: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected;
specifically, the sample to be tested can be obtained in a non-invasive sampling mode through oral mucosa and can also be obtained in a convenient blood sampling mode. The PCR fluorescent signal is used to distinguish different SNP genotypes, for example, for a site where only FAM fluorescent signal appears, the genotype at the indicated site is SNP wild type, while FAM and VIC signal sites appear simultaneously, the genotype at the indicated site is SNP heterozygous, and for a site where only VIC signal appears, the genotype at the indicated site is SNP homozygous mutant. For different medication related genes, PCR amplification is carried out on the detection sites by designing fluorescent probes and primers, so that the SNP genotype of the sites can be determined according to PCR fluorescent signals.
S202, genotype interpretation step: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected;
specifically, in the genotype interpretation step, by using the genotype interpretation system, site details and medication conclusion details can be automatically obtained according to SNP genotype information of different sites, the site details comprise site names, target genes, reference bases, mutant bases and phenotype information, the medication conclusion details comprise medication suggestions corresponding to different phenotypes, genetic evidence and medication guidance can be directly provided for individualized medication, the time from sampling to report issuing is greatly shortened, a precious treatment time window is strived for patients, and the diagnosis and treatment period of the patients is greatly shortened.
For example, for clopidogrel, the detection sites are rs4244285 and rs4986893, the genotype of the rs4244285 site can be divided into 1 type and 2 type, the genotype of the rs4986893 site can be divided into 1 type and 3 type according to whether base mutation exists, and the relationship between the genotype of the clopidogrel detection site and the phenotype of the sample to be detected is shown in table 1, so that the phenotype of the sample to be detected can be determined according to the genotype of the clopidogrel detection site, and further medication suggestions corresponding to different phenotypes are provided.
TABLE 1
| rs4244285 | rs4986893 | Phenotype |
| GG，*1 | GG，*1 | EM (fast metabolism, 1/' 1) |
| GG，*1 | GA，*3 | IM (intermediate Metabolic type, 1/3) |
| GG，*1 | AA，*3 | PM (Slow metabolism type, 3/3) |
| GA，*2 | GG，*1 | IM (intermediate Metabolic type, 1/2) |
| GA，*2 | GA，*3 | PM (Slow metabolism type, 2/3) |
| GA，*2 | AA，*3 | PM (Slow metabolism type, 2/3) |
| AA，*2 | GG，*1 | PM (Slow metabolism type, 2/2) |
| AA，*2 | GA，*3 | PM (Slow metabolism type, 2/3) |
| AA，*2 | AA，*3 | PM (Slow metabolism type, 2/3) |
S203, report generation step: and generating a report according to the SNP genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
Specifically, a corresponding interpretation report can be directly generated according to the interpretation result, so that rapid integrated gene detection service from acquisition of genotype information, interpretation of genotype information and report output is realized, individual medication suggestions can be directly obtained according to the genetic material characteristics of patients, and the traditional medication mode is optimized and improved, so that the safety and effectiveness of the use of the medicine can be improved in an auxiliary clinical manner.
In an implementation manner of this embodiment, in the genotype obtaining step, distinguishing the SNP genotypes at different sites according to the PCR fluorescence signal of the target gene in the sample to be detected specifically includes:
acquiring PCR fluorescent signals corresponding to different sites, and determining the base types of the sites according to the types of the PCR fluorescent signals, wherein the PCR fluorescent signals and the base types are in one-to-one correspondence;
determining SNP genotype of each site according to the base type of each site.
Specifically, for different detection items and detection sites, the base type of the detection site, namely, a mutant base or an original base, can be determined by generating a PCR (polymerase chain reaction) fluorescent signal through the pre-designed fluorescent probe, primer and target gene amplification, and the genotype of the site can be determined to be a wild type, a heterozygous type or a homozygous mutant type according to the base type.
For example, for clopidogrel, by designing fluorescent probes labeled with FAM fluorescent group and VIC group respectively, and collecting FAM signals and VIC signals, the genotype of a detection site can be determined; if the PCR fluorescent signal is only an FAM signal, the base type of the site is only an original base, and the site of the target gene corresponding to the PCR fluorescent signal is an SNP wild type; if the PCR fluorescent signal is a FAM signal and a VIC signal, the base type of the site is shown to have both an original base and a mutant base, and the site of the target gene corresponding to the PCR fluorescent signal is an SNP heterozygote; if the PCR fluorescent signal is a VIC signal, the base type of the site is only a mutant base, and the site of the target gene corresponding to the PCR fluorescent signal is an SNP homozygous mutant type.
In one implementation manner of this embodiment, the genotype differentiation step further includes a sample detection step before the genotype differentiation step, and the sample detection step includes:
obtaining a sample DNA to be detected, and determining a detection item and a detection site of the sample DNA to be detected;
carrying out qPCR amplification on a target gene of the DNA of the sample to be detected by adopting a qPCR primer and a fluorescent probe corresponding to the detection item and the detection site;
and collecting PCR fluorescent signals generated in the target gene amplification process.
Specifically, the detection items are genes or drug-related genes, such as folic acid, hyperlipidemia drugs, anti-angina drugs, clopidogrel and warfarin drug-related genes. The detection sites of different detection items can be determined according to the suggestions of the technical guidelines for detecting drug metabolizing enzymes and drug action target genes, and fluorescent probes required by different sites are different, so that the SNP genotypes of different sites can be distinguished through fluorescent signals.
In an implementation manner of this embodiment, the sample DNA to be detected is obtained through steps of cracking and releasing a DNA lysate, heating, cooling, mixing with a DNA stabilizing solution, centrifuging, and the like, and the sample DNA to be detected is mixed with an upper computer reagent for qPCR detection. Wherein the upper computer reagent is a premix of PCR, and contains enzyme, dNTP, enzyme-free sterile water, a fluorescent probe, a primer and the like.
In one implementation manner of this embodiment, the fluorescent probe is a TaqMan probe, a probe specifically hybridized with the probe is designed and synthesized according to a target gene, for bases with different sites, a sequence and a fluorophore corresponding to the probe are determined according to the type of the site base when the fluorescent probe is designed, different fluorophores are labeled at the 5 'end of the probe, a quencher is labeled at the 3' end of the probe, under normal conditions, the two fluorophores are close in spatial distance, the fluorophore cannot emit fluorescence due to quenching, during PCR amplification, a primer and the probe are simultaneously bound to a template, and the binding position of the probe is located between an upstream primer and a downstream primer.
When the amplification extends to the position where the probe is combined, Taq enzyme cuts the fluorescent molecule connected with the 5 'end of the probe from the probe by utilizing the activity of 5' exonuclease, so that the fluorescent molecule emits fluorescence, the base type of the site can be judged according to the type of a fluorescent signal, and the SNP genotype of the site is further determined.
In one implementation of this embodiment, the PCR fluorescence signal includes a FAM fluorescence signal and a VIC fluorescence signal. Specifically, the FAM signal is a signal acquired by a FAM channel of a qPCR instrument, the VIC signal is a signal acquired by a VIC channel of the qPCR instrument, and SNP genotypes of different sites can be determined by acquiring PCR fluorescent signals of the two channels.
According to the embodiment, a complete drug metabolizing enzyme and drug action target gene detection can be realized through the detection method, genetic evidence and drug administration guidance can be directly provided for individualized drug administration according to the detection result, the time from sampling to report issuing is greatly shortened, a precious treatment time window is strived for patients, and the diagnosis and treatment period of the patients is greatly shortened; in addition, the gene detection method can obtain individual medication suggestions according to the genetic material characteristics of patients, optimize and improve the traditional medication and treatment modes, and can assist the clinic to improve the safety and the effectiveness of the use of the medicine.
Those skilled in the art will appreciate that all or part of the functions of the various methods in the above embodiments may be implemented by hardware, or may be implemented by computer programs. When all or part of the functions of the above embodiments are implemented by a computer program, the program may be stored in a computer-readable storage medium, and the storage medium may include: a read only memory, a random access memory, a magnetic disk, an optical disk, a hard disk, etc., and the program is executed by a computer to realize the above functions. For example, the program may be stored in a memory of the device, and when the program in the memory is executed by the processor, all or part of the functions described above may be implemented. In addition, when all or part of the functions in the above embodiments are implemented by a computer program, the program may be stored in a storage medium such as a server, another computer, a magnetic disk, an optical disk, a flash disk, or a removable hard disk, and may be downloaded or copied to a memory of a local device, or may be version-updated in a system of the local device, and when the program in the memory is executed by a processor, all or part of the functions in the above embodiments may be implemented.
Therefore, as shown in fig. 2, in an embodiment of the present invention, the apparatus for detecting a drug-metabolizing enzyme and a drug-action target gene includes: a genotype differentiation module 301, a genotype interpretation module 302, and a report generation module S303.
Specifically, the genotype distinguishing module 301 is configured to distinguish SNP genotypes at different sites according to PCR fluorescent signals of target genes in a sample to be detected;
the genotype interpretation module 302 is used for interpreting the SNP genotypes of different sites, and determining the SNP site name, the target gene, the reference base, the mutation base, the phenotype information of the sample to be detected and the medication suggestions corresponding to different phenotypes;
the report generating module 303 is configured to generate a report according to the SNP genotype interpretation result, and output at least one set of the SNP site name, the target gene, the reference base, the mutant base, the phenotype information, and the medication suggestions corresponding to different phenotypes of the sample to be tested.
In an implementation manner of this embodiment, in the genotype identifying module, identifying SNP genotypes at different sites according to a PCR fluorescent signal of a target gene in a sample to be detected specifically includes:
acquiring PCR fluorescent signals corresponding to different sites, and determining the base types of the sites according to the types of the PCR fluorescent signals, wherein the PCR fluorescent signals and the base types are in one-to-one correspondence;
determining SNP genotype of each site according to the base type of each site.
In an implementation manner of this embodiment, the apparatus further includes a sample detection module, where the sample detection module is configured to:
obtaining a sample DNA to be detected, and determining a detection item and a detection site of the sample DNA to be detected;
carrying out qPCR amplification on a target gene of the DNA of the sample to be detected by adopting a qPCR primer and a fluorescent probe corresponding to the detection item and the detection site;
and collecting PCR fluorescent signals generated in the target gene amplification process.
In one implementation manner of this embodiment, the detection items include at least one of folic acid, hyperlipidemia medication, anti-angina drug, clopidogrel, and warfarin.
In one implementation of this embodiment, the PCR fluorescence signal includes a FAM fluorescence signal and a VIC fluorescence signal.
Another embodiment of the present application further provides a device for detecting a drug metabolizing enzyme and a drug action target gene, comprising: a memory for storing a program; a processor for implementing the following method by executing the program stored in the memory: genotype distinguishing step: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected; genotype reading step: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected; a report generation step: and generating a report according to the SNP genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
Another embodiment of the present application also provides a computer-readable storage medium having a program stored thereon, the program being executable by a processor to implement a method of: genotype distinguishing step: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected; genotype reading step: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected; a report generation step: and generating a report according to the SNP genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
The present application will be described in further detail with reference to specific examples. The following examples are intended to be illustrative of the present application only and should not be construed as limiting the present application.
Example 1
In the embodiment, clopidogrel is taken as an example, and the whole process from sampling to gene detection report providing is given through a sample detection step, a genotype distinguishing step, a genotype reading step and a report generating step, so as to explain the drug metabolizing enzyme and drug action target gene detection method in the embodiment.
The starting materials used in this example may be obtained in a manner well known to those skilled in the art. In the present example, the DNA lysate and the DNA stabilizer were obtained from Saimer Feishell science and technology.
The PCR instrument for collecting PCR fluorescent signals in the embodiment is a Tianlong Gentier32R double-channel (FAM, VIC) PCR instrument; the dry thermostat used for lysing cells and releasing DNA in this example was manufactured by hangzhou ruicheng instruments ltd, model number Minni Box; the model of the vortex mixer used for shaking the mixed reagent in the embodiment is SCILOGEX/MX-S; the 6-well and 8-well centrifuges used in this example were of the type SCILOGEX/D1008E.
Firstly, a sample detection step
Specifically, the sample detection step comprises the steps of sampling, information recording, information checking, sample processing, computer detection and the like, so that the sample is collected and detected, and the PCR fluorescent signal of the sample to be detected is obtained.
1. Sampling
In particular, the sampling can be performed by non-invasive sampling or convenient blood sampling of oral mucosa to obtain a sample to be tested. The embodiment adopts noninvasive sampling of oral mucosa to collect samples.
2. Information entry
The content of the information entry includes: sample coding, item selection, name, gender and birth date detection, checking and selecting the 'informed consent' and completing online information entry by single-click submission. In a specific implementation manner of this embodiment, the "sample registration" may be selected at "reookang morning" private center, "and the production management and report automation system may also be logged: www.realomics.com, information entry is carried out.
3. Information collation
The sample inspector logs in the production management and report automation system, checks the sample number and other related information, and selects 'confirm sample collection' after confirming that no error exists.
4. Sample processing
Manually and quickly shaking the collected sample to be detected or centrifuging the sample at a low speed by a centrifuge to ensure that cells on the swab rod are fully dissolved into liquid; sucking 10ul of a sample into a sample tube, adding a DNA lysate into the sample tube, sucking and blowing by using a pipette to fully mix the DNA lysate and the sample, then covering the tube, heating for 3 minutes at a high temperature of 95 ℃ by using a dry thermostat, and then cooling the sample at room temperature for 30 seconds; then, adding 10ul of DNA stabilizing solution into the sample, sucking and blowing the DNA stabilizing solution and the sample by using a pipette to fully mix, then covering a tube cover, and centrifuging for a short time; sucking 2ul of centrifuged sample, adding the centrifuged sample into the on-machine reagent of the detection item, sucking and blowing the sample by using a liquid shifter to fully mix the on-machine reagent and the sample, then covering a tube cover, and quickly centrifuging to make the on-machine reagent fall into the bottom of the sample tube and eliminate foam; the sample tube was placed into the qPCR detection instrument and the lid was closed for detection of the PCR fluorescence signal.
5. Detection on machine
And (3) processing the sample, inputting the name of the experiment, customizing the name rule, such as FGDP20200001, setting PCR amplification parameters, selectively starting, and waiting for 35 minutes to obtain the PCR fluorescent signal of the sample to be detected. Specifically, PCR amplification parameters were set: 10ul of reaction system; the hot lid temperature was 105 ℃; pre-denaturation at 95 ℃ for 20 seconds at constant temperature; amplifying by a 2-step method at 95 ℃, wherein the constant temperature duration is 3 seconds, the constant temperature duration at 60 ℃ is 20 seconds, and the cycle number is 40; the fluorescent signal is selected from FAM and VIC signals.
Selecting 'operation monitoring', checking the connection condition of the equipment and the computer, and starting a program. After 35-40 minutes, the operation is finished, and the detection result with the file name of FGDP20200001.tlpd is obtained.
Secondly, genotype distinguishing step
As the fluorescent probes used by different detection items already define FAM and VIC signals corresponding to different genotypes, SNP genotypes of different sites can be distinguished according to PCR fluorescent signals of target genes in a sample to be detected.
Specifically, for related genes of clopidogrel medication, according to the technical guidance for detecting genes of drug metabolizing enzymes and drug action targets, two sites rs4244285 and rs4986893 are detected, a PCR fluorescent signal region corresponding to the site rs424428 is clicked, only FAM signals are obtained, the site rs4244285 is a wild type genotype, the PCR fluorescent signal region corresponding to the site rs4986893 is clicked, FAM signals and VIC signals are obtained, and the site rs4986893 is a heterozygous genotype.
After obtaining the site information of related genes of clopidogrel medication, arranging the site information to a data template to obtain a clopidogrel data template, xlsx, which is used for a subsequent interpretation system to interpret.
Thirdly, genotype reading step
Logging in a production management and reporting automation system: www.realomics.com, selecting a corresponding channel of the sample in the data center, and uploading 'clopidogrel data uploading template. xlsx'. And returning to the order center after the data is uploaded successfully, wherein the order display state is 'reading', and clicking 'generation report', namely, downloading the PDF version of the report to generate a clopidogrel medication related gene detection report.
Specifically, the detection report includes: site names rs4244285 and rs4986893, clopidogrel medication related gene names CYP2C19, a reference base G, a mutant base A, a gene phenotype corresponding to the site rs4244285 as type 1, a gene phenotype corresponding to the site rs498689 as type 3, a phenotype of a sample to be tested as IM (intermediate metabolic type), and clopidogrel medication suggestions corresponding to the IM (intermediate metabolic type).
The present application has been described with reference to specific examples, which are provided only to aid understanding of the present application and are not intended to limit the present application. For a person skilled in the art to which the application pertains, several simple deductions, modifications or substitutions may be made according to the idea of the application.
Claims (10)
1. A method for detecting drug metabolizing enzyme and drug action target genes is characterized by comprising the following steps:
genotype distinguishing step: distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected;
genotype reading step: reading the SNP genotypes of different sites, and determining the SNP site name, target gene, reference base, mutant base, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected;
a report generation step: and generating a report according to the SNP genotype interpretation result, and outputting at least one group of the SNP locus name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
2. The method for detecting genes of drug metabolizing enzymes and drug action targets according to claim 1, wherein in the genotype identification step, identifying SNP genotypes at different sites according to PCR fluorescent signals of target genes in a sample to be detected specifically comprises:
acquiring PCR fluorescent signals corresponding to different sites, and determining the base types of the sites according to the types of the PCR fluorescent signals, wherein the PCR fluorescent signals and the base types are in one-to-one correspondence;
determining SNP genotype of each site according to the base type of each site.
3. The method for detecting genes of drug metabolizing enzymes and drug action targets according to claim 2, characterized in that the genotype differentiation step is preceded by a sample detection step comprising:
obtaining a sample DNA to be detected, and determining a detection item and a detection site of the sample DNA to be detected;
carrying out qPCR amplification on a target gene of the DNA of the sample to be detected by adopting a qPCR primer and a fluorescent probe corresponding to the detection item and the detection site;
and collecting PCR fluorescent signals generated in the target gene amplification process.
4. The method for detecting genes of drug metabolizing enzymes and drug action targets according to claim 3, wherein the detection items include at least one of folic acid, hyperlipidemia medication, anti-angina drugs, clopidogrel, warfarin.
5. The method for detecting genes of drug metabolizing enzymes and drug action targets according to claim 3, wherein the PCR fluorescent signals comprise FAM fluorescent signals and VIC fluorescent signals.
6. A drug metabolizing enzyme and drug action target gene detection device is characterized by comprising:
genotype differentiation module: used for distinguishing SNP genotypes of different sites according to PCR fluorescent signals of target genes in a sample to be detected;
genotype read module: the SNP genotype analyzing system is used for analyzing SNP genotypes of different sites, and determining SNP site names, target genes, reference bases, mutant bases, phenotype information and medication suggestions corresponding to different phenotypes of a sample to be detected;
a report generation module: and the SNP site analyzing device is used for generating a report according to the SNP genotype interpretation result and outputting at least one group of the SNP site name, the target gene, the reference base, the mutant base, the phenotype information and the medication suggestions corresponding to different phenotypes of the sample to be detected.
7. The device for detecting genes of drug metabolizing enzymes and drug action targets according to claim 6, wherein the genotyping module distinguishes SNP genotypes at different sites according to PCR fluorescent signals of target genes in a sample to be detected specifically comprises:
acquiring PCR fluorescent signals corresponding to different sites, and determining the base types of the sites according to the types of the PCR fluorescent signals, wherein the PCR fluorescent signals and the base types are in one-to-one correspondence;
determining SNP genotype of each site according to the base type of each site.
8. The device for detecting drug metabolizing enzyme and drug action target gene according to claim 6, further comprising a sample detection module for:
obtaining a sample DNA to be detected, and determining a detection item and a detection site of the sample DNA to be detected;
carrying out qPCR amplification on a target gene of the DNA of the sample to be detected by adopting a qPCR primer and a fluorescent probe corresponding to the detection item and the detection site;
collecting PCR fluorescent signals generated in the target gene amplification process;
preferably, the detection items comprise at least one of folic acid, hyperlipidemia medication, angina pectoris resistance medication, clopidogrel and warfarin;
preferably, the PCR fluorescence signal comprises a FAM fluorescence signal and a VIC fluorescence signal.
9. A drug metabolizing enzyme and drug action target gene detection device is characterized in that: the apparatus includes a memory and a processor;
the memory including a memory for storing a program;
the processor, comprising a program for implementing the drug metabolizing enzyme and drug action target gene detection method according to any one of claims 1 to 4 by executing the program stored in the memory.
10. A computer-readable storage medium characterized by: the storage medium stores a program that can be executed by a processor to implement the drug metabolizing enzyme and drug action target gene detecting method according to any one of claims 1 to 4.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN202011623703.1A CN112795632A (en) | 2020-12-31 | 2020-12-31 | Drug metabolizing enzyme and drug action target gene detection method, device and storage medium |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN202011623703.1A CN112795632A (en) | 2020-12-31 | 2020-12-31 | Drug metabolizing enzyme and drug action target gene detection method, device and storage medium |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CN112795632A true CN112795632A (en) | 2021-05-14 |
Family
ID=75807537
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN202011623703.1A Pending CN112795632A (en) | 2020-12-31 | 2020-12-31 | Drug metabolizing enzyme and drug action target gene detection method, device and storage medium |
Country Status (1)
| Country | Link |
|---|---|
| CN (1) | CN112795632A (en) |
Cited By (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN114678104A (en) * | 2022-05-25 | 2022-06-28 | 浙江迪谱诊断技术有限公司 | Hypertension medication recommendation system |
| CN115295116A (en) * | 2022-08-04 | 2022-11-04 | 上海康黎医学检验所有限公司 | Medication comment method and system and electronic equipment |
Citations (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2005038049A2 (en) * | 2003-10-06 | 2005-04-28 | Heinrich Guenther | System and method for optimizing drug therapy |
| CN105779601A (en) * | 2016-04-07 | 2016-07-20 | 江苏苏博生物医学科技有限公司 | Drug metabolic enzyme related gene SNP fluorescence labeling composite amplification kit |
| US20180135122A1 (en) * | 2016-11-11 | 2018-05-17 | OneOme LLC | Systems and methods for genotype-derived drug recommendations |
| CN108715805A (en) * | 2018-06-11 | 2018-10-30 | 首都医科大学附属北京潞河医院 | The automatic presentment system of clopidogrel medication related gene examining report |
| US20190055603A1 (en) * | 2015-04-28 | 2019-02-21 | Proove Biosciences, Inc. | System and method for processing genotype information relating to drug metabolism |
| CN109378044A (en) * | 2018-10-18 | 2019-02-22 | 东莞博奥木华基因科技有限公司 | A kind of personalized medicine report-generating method and system |
| CN109785906A (en) * | 2019-02-14 | 2019-05-21 | 北京安智因生物技术有限公司 | A kind of anticoagulant medication genetic test report automatic generating method and system |
| CN110335638A (en) * | 2019-05-22 | 2019-10-15 | 北京安智因生物技术有限公司 | Automatic generation method and system for statin drug gene detection report |
| CN111564178A (en) * | 2020-04-15 | 2020-08-21 | 圣湘生物科技股份有限公司 | Method, apparatus, device and storage medium for generating gene polymorphism analysis report |
-
2020
- 2020-12-31 CN CN202011623703.1A patent/CN112795632A/en active Pending
Patent Citations (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2005038049A2 (en) * | 2003-10-06 | 2005-04-28 | Heinrich Guenther | System and method for optimizing drug therapy |
| US20190055603A1 (en) * | 2015-04-28 | 2019-02-21 | Proove Biosciences, Inc. | System and method for processing genotype information relating to drug metabolism |
| CN105779601A (en) * | 2016-04-07 | 2016-07-20 | 江苏苏博生物医学科技有限公司 | Drug metabolic enzyme related gene SNP fluorescence labeling composite amplification kit |
| US20180135122A1 (en) * | 2016-11-11 | 2018-05-17 | OneOme LLC | Systems and methods for genotype-derived drug recommendations |
| CN108715805A (en) * | 2018-06-11 | 2018-10-30 | 首都医科大学附属北京潞河医院 | The automatic presentment system of clopidogrel medication related gene examining report |
| CN109378044A (en) * | 2018-10-18 | 2019-02-22 | 东莞博奥木华基因科技有限公司 | A kind of personalized medicine report-generating method and system |
| CN109785906A (en) * | 2019-02-14 | 2019-05-21 | 北京安智因生物技术有限公司 | A kind of anticoagulant medication genetic test report automatic generating method and system |
| CN110335638A (en) * | 2019-05-22 | 2019-10-15 | 北京安智因生物技术有限公司 | Automatic generation method and system for statin drug gene detection report |
| CN111564178A (en) * | 2020-04-15 | 2020-08-21 | 圣湘生物科技股份有限公司 | Method, apparatus, device and storage medium for generating gene polymorphism analysis report |
Non-Patent Citations (2)
| Title |
|---|
| 中华人民共和国国家卫生和计划生育委员会: "药物代谢酶和药物作用靶点基因检测技术指南(试行)概要", 《实用器官移植电子杂志》 * |
| 刘志艳等: "基因导向的个体化治疗", 《临床药物治疗杂志》 * |
Cited By (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN114678104A (en) * | 2022-05-25 | 2022-06-28 | 浙江迪谱诊断技术有限公司 | Hypertension medication recommendation system |
| CN115295116A (en) * | 2022-08-04 | 2022-11-04 | 上海康黎医学检验所有限公司 | Medication comment method and system and electronic equipment |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| Jain | Textbook of personalized medicine | |
| Sheikine et al. | Clinical and technical aspects of genomic diagnostics for precision oncology | |
| Hennekam et al. | Next‐generation sequencing demands next‐generation phenotyping | |
| Taylor et al. | Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency | |
| DK2601609T3 (en) | COMPOSITIONS AND METHODS FOR DISCOVERING MUTATIONS CAUSING GENETIC DISORDERS | |
| Lu et al. | Association of HLA-DRB1 polymorphism with Alzheimer's disease: a replication and meta-analysis | |
| CN100401063C (en) | Molecular diagnostic and computerized decision support system for selecting the optimum treatment for human cancer | |
| Houghton et al. | Real-time PCR: overview and applications | |
| Conley et al. | Current and emerging technology approaches in genomics | |
| Lin et al. | Newborn screening for spinal muscular atrophy in China using DNA mass spectrometry | |
| Jablonski et al. | Analytical validation of a psychiatric pharmacogenomic test | |
| CN102978283B (en) | For Molecular internal standard quality control and the test kit thereof of biological specimen detection of nucleic acids | |
| Monteiro et al. | Lessons from postgenome‐wide association studies: functional analysis of cancer predisposition loci | |
| CN112795632A (en) | Drug metabolizing enzyme and drug action target gene detection method, device and storage medium | |
| Schnekenberg et al. | Next-generation sequencing in childhood disorders | |
| CN107338284B (en) | Human and mouse PDX model related cross contamination detection kit and detection method | |
| CN105745335A (en) | Compositions and methods for multimodal analysis of cMET nucleic acids | |
| Mizukami et al. | Rapid genotyping assays for the 4–base pair deletion of canine MDR1/ABCB1 gene and low frequency of the mutant allele in Border Collie dogs | |
| JP6891150B2 (en) | Analysis method, information processing device, gene analysis system, program, recording medium | |
| Battaglia et al. | The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology | |
| CN105705655A (en) | Compositions and methods for multiplex analysis of NRAS and BRAF nucleic acids | |
| CN105274197B (en) | Quality control method and kit for biological sample detection of nucleic acids | |
| Wiita et al. | Clinical application of high throughput molecular screening techniques for pharmacogenomics | |
| Marx | PCR: living life amplified and standardized | |
| Catarsi | Digital PCR-Methods and Protocols |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PB01 | Publication | ||
| PB01 | Publication | ||
| SE01 | Entry into force of request for substantive examination | ||
| SE01 | Entry into force of request for substantive examination | ||
| RJ01 | Rejection of invention patent application after publication |
Application publication date: 20210514 |
|
| RJ01 | Rejection of invention patent application after publication |