1125 results about "Mthfr genotype" patented technology

The present invention provides a novel polymorphism detecting method suitable for the detection and identification of copy number variation.

Provided is a method of determining the genotype of a subject in a genomic region comprising an SNP site, comprising a step for performing typing of the SNP site by the invader assay with a DNA-containing sample comprising the genomic region from the subject as the template, wherein fluorescence is measured on a real time basis. The copy number ratio of both alleles is determined using the fluorescence intensity ratio of each allele at a time before saturation of fluorescence intensity. Preferably, the present method further comprises a step for amplifying the genomic region comprising an SNP site prior to the invader step. In this step of amplification, a plurality of regions comprising a plurality of SNP sites can be simultaneously amplified. Furthermore, the present method enables the determination of the copy number of each allele when combined with quantitative PCR.

Use of polymorphism site gene to predict ACEI medicine, its method and reagent kit are disclosed. It can be used to determine critical enzyme gene polymorphism site gene typing oligonucleotide and critical enzyme gene polymorphism site gene in cysteine metabolic pathway.

The invention discloses a method for predicating a homologous recombination deficiency (HRD) mechanism and a method for predicating response of patients to cancer therapy and relates to the field of biological information predication. The method comprises the step of judging whether a tumor sample has homologous recombination deficiency or not according to one or more comprehensive values in a large-segment INDEL (Insertion/Deletion) fraction, a copy number variation fraction and a tumor mutation load fraction, wherein the comprehensive values can also comprise a loss of heterozygosity variation fraction. By adopting the method disclosed by the invention, predication of a chromosome large-segment structure, a chromosome gene type number, a chromosome gene copy number, a chromosome variation interval and abnormal loss of heterozygosity and chromosome telomeric imbalance is realized, so that an evaluation range is more complete and HRD can be accurately predicated; the comprehensive values also can be used for determining whether the patients have response to a therapeutic regimen containing one or more of a PARP (Poly Adenosine Diphosphate Ribose Polymerase) inhibitor, an DNA (Deoxyribonucleic Acid) injury inhibitor, a topoisomerase II/II+inhibitor, a topoisomerase I inhibitor and radiotherapy; the method is simple and has wide general applicability.

The invention discloses an agent box, which is characterized by the following: utilizing the relation between mononucleotide polymorphism site E112D genetype of important enzyme praline carboxypeptidase gene on vessel or esoderma regulating access and ACEI medical effect; forecasting ACEI medical effect; possessing good ACEI medical effect when genetype as 112EE pure wild-type; possessing bad effect when the genetype as 112ED heterozygous type or 112DD pure saltant; incorporating polymorphism parting oligonucleotide of E112D polymorphism site genetype with praline carboxypeptidase gene to test biological sample and related agent. This invention improves effectiveness and safety of clinic medicine, which provides criterion for new medicine of high blood pressure.

RBC and platelet (Plt) alloimmunization requires antigen-matched blood to avoid adverse transfusion reactions. Some blood collection facilities use unregulated Abs to reduce the cost of mass screening, and later confirm the phenotype with government approved reagents. Alternatively, RBC and Plt antigens can be screened by virtue of their associated single nucleotide polymorphisms (SNPs). We developed a multiplex PCR-oligonucleotide extension assay using the GenomeLab SNPStream platform to genotype blood for a plurality of blood group antigen-associated SNPs, including but not limited to: RhD (2), RhC/c, RhE/e, S/s, K/k, Kp^a/b, Fya/b, FYO, Jk^a/b, Di^a/b, and HPA-1a/b.

The present invention provides a set of oligonucleotide probe for detecting CYP450 enzyme gene hot mutant site and its uses, belonging to clinical molecular diagnosis field. The probe is designed at whole gene sequence of each subtype enzyme of CYP450 and has relative high sensitivity and specifity. The present invention also provides a gene chip for detecting cytochrome P450 enzyme series mutant sites and can detect gene typing of DNA specimen. The inventive probe can be used in P450 genetype diagnosi, clinical medicament and preventing drug adverse reaction.

The present invention is in the field of nucleic acid-based genetic analysis. More particularly, it discloses novel insights into the overall structure of genetic variation in all living species. The structure can be revealed with the use of any data set of genetic variants from a particular locus. The invention is useful to define the subset of variations that are most suited as genetic markers to search for correlations with certain phenotypic traits. Additionally, the insights are useful for the development of algorithms and computer programs that convert genotype data into the constituent haplotypes that are laborious and costly to derive in an experimental way. The invention is useful in areas such as (i) genome-wide association studies, (ii) clinical in vitro diagnosis, (iii) plant and animal breeding, (iv) the identification of micro-organisms.

The invention discloses a primer system for detecting 7 gene polymorphic sites related to warfarin dosage. A product prepared based on the primer system can be used for realizing the detection of 7 gene polymorphic sites related to warfarin dosage. The product is used so as to detect the genetypes of a warfarin user at the 7 gene polymorphic sites; and the detection result is combined with other clinical indexes so that a reference can be provided for a clinical doctor to reasonably define the warfarin dosage, and the side effect of a medicament is avoided. According to the invention, the primer system can be used for simultaneously detecting the 7 gene polymorphic sites on different genes in one reaction system; and compared with technologies such as sequence measurement and real-time fluorescencent quantitative PCR (polymerase chain reaction), the primer system disclosed by the invention has the advantages of lower cost, simplicity and convenience in operation and improved accuracy and sensitivity.

The present invention relates to an SNP (single nucleotide polymorphism) combination, detection method and kit for detecting liver damage susceptible genotype of an antitubercular drug and belongs to the technical field of medical molecular biological diagnosis; the SNP combination includes 7 SNP sites, and nucleotide sequences of the 7 SNP sites are shown sequentially as in SEQ ID NO. 1-7; the present invention also relates to an SNP detection method, comprising PCR (polymerase chain reaction) amplification and double-labeled probe melting curve analytical reaction, and primer pairs and double-labeled probe sequences for detection of the 7 SNP sites are shown as in SEQ ID NO. 8-20. The SNP site combination, detection method and kit provided herein enables quick, accurate, simple and high-throughput detection for a patient's genotype and prediction for the liver damage risk due to the patient using the antitubercular drug.

The invention designs two pieces of Taqman mutant type and wild type probe and a pair of primer. Using Taqman probe method of real time fluorescence quantitation carries out genotype analysis for A1555G mutation of deaf gene of maternal inheritance mitochondria so as to diagnose genetic deaf disease of maternal mitochondria. The method is suitable to large-scale screening or preventative inspecting A1555G mutation of deaf mitochondria gene of maternal inheritance. Features are: simple, time saving, high specificity, high sensitivity, intuitive tested result, accurate and reliable.

The invention discloses a method for building a standard CYP450 (cytochrome p450) gene type database. The method comprises the steps as follows: comparing a specific sequence corresponding to mutation information of a CYP450 gene type with a standard human whole genome sequence to obtain a corresponding relation between the specific sequence and the standard human whole genome sequence; and converting the CYP450 gene type into a gene type taking the standard human whole genome sequence as a reference sequence according to the corresponding relation. The invention further discloses a database built by the method and a CYP450 gene typing and enzymatic activity identification method based on the database. The database is convenient for research of CYP450; the gene typing method provides unified standards for CYP450 gene typing and provides more accurate judgment criterions for diseases, drugs or the like; unknown mutation sites in CYP450 genes can be effectively detected; hundreds of samples can be detected at the same time; and the coverage range is comprehensive and wide.

The invention relates to a hereditable deafness susceptibility gene screen test kit. The kit uses mutation from C to T of 1,494 locus of a 12s rRNA gene, mutation from A to G of 1,555 locus of the 12srRNA gene, mutation from A to G of IVS7(-2) locus of an SLC26A4 gene and C(+/-) of 235 locus of a GJB2 gene as detecting objects, designs and optimizes a set of specific primers respectively againsteach locus to be tested according to the PCR technical principle of a tetra-primer amplification refractory mutation system, amplifies the whole set of the primers in the same reaction tube, and performs primary multiple PCR amplification and primary gel electrophoresis on the four reaction tubes to obtain gene types of four loci simultaneously.

The invention provides a non-invasive detection kit for detecting susceptible genes of women osteoporosis. The kit comprises five osteoporosis single nucleotide polymorphism genotype specific primers, a DNA sequencing primer, a polymerase chain reaction (PCR) reaction component, a PCR product purification component, a DNA sequencing reaction component and the like, wherein the five osteoporosis single nucleotide polymorphism genotype specific primers are used for detecting G-174C on an IL-6 gene, BsmI and TaqI on a VDR gene, G-308A on a TNF-a and Lys3Asn on an OPG gene. The kit can screen out high-risk women group susceptible to osteoporosis by detecting the genotypes of the five osteoporosis single nucleotide polymorphisms closely related to osteoporosis, can evaluate the risk level susceptible to osteoporosis from gene level according to the gene detection result of every checked person and can guide menopausal women to effectively prevent osteoporosis.

The invention relates to a method for identifying gene mutation types in the field of gene analysis as well as a special chip and a kit thereof. The gene mutation detecting method comprises the following steps: taking a genome to be detected from a human tissue as a template, carrying out multiple allele special PCR amplification by a primer group that is designed aiming at special mutant sites and DNA polymerase without 3'-5' end exonclease activity, then hybridizing the obtained PCR product and an oligonucleotide probe (allele special probe) on the gene chip, and confirming mutation types of all gene sites according to the hybridizing result. The allele special probe is designed aiming at special gene types of gene mutant sites to be detected. The invention can detect gene mutations in comprehensive, systemic and high-flux ways and has light environmental pollution as well as simple and rapid operation compared with PCR-RFLP and a sequencing method.

The invention provides an SNP (Single Nucleotide Polymorphism) marker related to the bitter character of cucumber and application of the SNP marker. The SNP marker is located at the NO.1178bp of the gene sequence for coding the Csa6G088690 protein of cucumber; cucumber with basic groups G at the NO.1178bp is bitter; and cucumber with basic groups A at the NO.1178bp is not bitter. According to the invention, a genome wide association study (GWAS) method is adopted to screen out the SNP marker related to the bitter taste character of cucumber, a derived cleaved amplified polymorphic sequences (dCAPS) method is adopted to detect the gene types of cucumber to be detected, and bitter or non-bitter cucumber variety breeding is carried out according to the gene types, so as to speed up the breeding process of non-bitter cucumber. The SNP marker is more accurate and reliable in result than the traditional method of subjectively judging whether cucumber is bitter or not, is simpler and more convenient than HPLC (High Performance Liquid Chromatography) for identifying bitter substances, and can be used for large-scale screening of breeding materials. Besides, the invention discovers the committed step for the Csa6G088690 protein of cucumber to control the synthesis pathway of bitter of cucumber for the first time.

The invention discloses a primer composition for discriminating a green-shelled-egg chicken genotype and a use thereof. The primer composition comprises two primer pairs, one primer pair comprises SLCO1B3 gene inserted EAV-HP sequence primers respectively shown in the formulas of SEQ ID NO. 1 and 2, and the other primer pair comprises SLCO1B3 gene non-inserted sequence primers respectively shown in the formulas of SEQ ID NO. 1 and 3. A DNA genome of a chicken to be detected is used as a template and is subjected to PCR amplification under the action of the primer pairs so that a PCR amplification product is obtained. Through detection of the amplified 209bp and 312bp bands, it is determined if the chicken to be detected can produce green-shelled eggs. The primer composition can discriminate the green-shelled-egg chicken genotype.

The invention discloses an agent box for assessing pre-pregnant nutrition metabolism hereditary ability. The agent box comprises specificity primer pair and specificity fluorescent detecting probe pair for detecting synchronously number rs1801133 and rs1801131 SNP site on 5,10-methano tetrahydrofolic acid reducing ferment gene, number rs1801394 SNP site on methilanin synthetase reducing ferment gene, number rs731236 and rs1544410 on vitamin D receptor gene, number rs5443 SNP site on G albumen Beta3 second unit gene, general component for detecting fluorescent definite quantity PCR etc.. The agent box of the invention assesses pre-pregnant nutrition metabolism hereditary ability by detecting synchronously mononucleotide polymorphism site gene type correlative closely to pre-pregnant nutrition metabolism hereditary potence.

The invention provides a method for detecting the HPV genotypes, with the gene to be detected being one or several types of the type 17 HPV, comprising the following steps: according to the variant sites of the selected HPV genotype universal primer sequence to be detected, an amplification primer aiming at each type is designed; the specific extension primer of each type is designed; (2) PCR amplification is conducted; (3) SAP enzyme treatment is conducted; (4) extension reaction is conducted, among the extending products and the extending primers, the difference of the molecular weight among the extending products of each type is not less than 9D; (5) resin is used to purify extension reaction products; and (6) mass spectrometry detection is conducted, and the type of HPV gene to be detected is determined. By using the method, the invention solves the problems of some of existing detection methods that the typing can not be realized, the multiple infections can not be detected, the accuracy is limited, the throughput is low, the cost is high, and the stability of reaction may be affected as the probe is RNA.

A computerized decision support system and method for predicting which of one or more drugs suitable to treat a cancerous condition in a patient are the optimum drug(s), where such selection is based upon the particular patient's genotype. A PCR kit and/or a gene chip detects multiple genes, expressions and/or mutations associated with a particular cancer using a sample of the patient's tissue or blood. A detector accepts the gene chip and analyzes the patient's genotype; and a computerized system using a database which associates patient genotypes and the efficacy and toxicity of various anti-cancer drugs used in treating patients with a particular cancerous condition connected to the detector correlates the output of the detector to the database to provide a recommendation as to which drugs are optimum for treating the patient's cancer.

The invention relates to diagnostic reagent of mediterranean anemia, in particular to a nucleic acid membrane strip and kit for alpha and beta mediterranean anemia gene detection. The technical scheme is that the nucleic acid membrane strip for alpha and beta mediterranean anemia gene detection comprises a substrate and a specific oligonucleotide probe fixed on the substrate, wherein the specific oligonucleotide probe comprises 6 normal alpha-mediterranean anemia (3 deletion types and 3 mutant types) probes and 17 mutant type beta-mediterranean anemia probes. By means of the nucleic acid membrane strip and the kit, deflection type alpha-mediterranean anemia, non-deflection type alpha-mediterranean anemia and beta-mediterranean anemia can be detected in one step simultaneously. Compared with the existing like technology, 2 unreported beta-mediterranean anemia (-30 and -32) and 1 unreported non-deflection type alpha-mediterranean anemia (alpha WS alpha) are detected simultaneously, occurrence rate of the three mediterranean anemia in China is not low, the risk of leak detection in poor areas can be greatly increased without detection, and severe burden can be brought to families and the society.

The invention discloses a method of detecting the quality of pork. In the method, the gene type of the pig is determined by detecting that the ribonucleotide is C or G on the 451st site on the 51end of the sequence 1 or the 112th site on the 5 (1) end of the sequence 2; and the quality of pork is determined by the gene type; the method of determining the gene type of the pig is as follows: when the ribonucleotide is C on the 451st site on the 5 (1) end of the sequence 1, the homozygote gene type is AA; when the ribonucleotide is G on the 112th site on the 51 end of the sequence 2, the homozygote gene type is BB; the heterozygous gene type is AB; the method of determining the quality of pork via the gene type is as follows: the AA gene type pork tenderness and pH are higher than the AB gene type pork; the AB gene type AB gene type are higher than the BB gene type pork. The method of invention can be applied to detect the tenderness and pH value of the pig which indicate the quality of muscle, which provides a method of accurately and conveniently detecting the hereditary character for the molecular breeding of pig.

The invention discloses a PCR (Polymerase Chain Reaction) reaction kit for detecting KRAS (Kirsten Rat Sarcoma) gene mutation, which is characterized by comprising a plurality of primer pairs used for specifically amplifying a targeting sequence of the KRAS gene, and each primer pair contains a continuous nucleotide sequence formed by at least 15 continuous nucleotides in a second exon KRAS2 or athird exon KRAS 3 of the KRAS gene, wherein the KRAS2 has the continuous nucleotide sequence of SEQ ID No:1, and the KRAS3 has the continuous nucleotide sequence of the SEQ ID No: 2. The kit completes the judgment on a genotype sample by adopting a saturated probe and a high resolution fusion curve analysis technology so as to provide guidance on medicine selection and diagnosis for various tumors including lung cancers and colorectal cancers.

The present invention discloses a kit for detecting aldehyde dehydrogenase 2(ALDH2) gene polymorphism by using the single-tube bidirectional allele-specific amplification technology combined with the SNP sensitivity molecular switch technology, and an amplification method and a detection method thereof. The kit genotypes the Glu487Lys(rs671) site on the aldehyde dehydrogenase 2. The kit includes amplification buffer, polymerase, cell lysis buffer and glycerol, and can complete the genotyping for the SNP site in one PCR reaction so as to understand the genotype of the aldehyde dehydrogenase 2 subject and the product activity thereof.

The invention discloses a molecular marker in close linkage with rape crotch angle character QTL (Quantitative Trait Loci) and application. The molecular marker is characterized by carrying out hybridization by taking cabbage type rape variety Shanghai oil 19 as a female parent and Purler as a male parent, establishing F2 segregation population through selfing of hybrid F1, and analyzing, thus obtaining a crotch angle locus qBA1.A06; designing a primer by utilizing an Indel marker at the boundary of the crotch angle locus qBA1.A06 so as to detect the parents and the F2 population, thus obtaining a molecular marker BAIndel76 and a molecular marker BAIdenl79 which are in close linkage with the crotch angle character QTL; identifying a rape gene type formed after hybridization of the two parents by utilizing a marker primer, and carrying out auxiliary selection by utilizing the marker, thus greatly increasing the selection efficiency. According to the molecular marker disclosed by the invention, a novel genetic marker is provided for molecular breeding of the rape plant type, and useful information is also provided for accurate positioning on the crotch angle character QTL of the cabbage type rape and map-based cloning on related genes.

The invention discloses a method for detecting a fetal thalassemia pathogenic gene, which comprises the following steps of: (1) screening SNP sites, wherein the SNP sites are used for designing a primer pool of the thalassemia gene in an amplification genome and for capturing the probe of the thalassemia gene of the free DNA in the plasma of a pregnant woman; (2) extracting the free DNA in the plasma of the pregnant woman and the whole blood genomic DNA of the father, the mother and a born sibling and constructing a corresponding DNA library, and carrying out template preparation and enrichment; (3) sequencing the free DNA and the whole blood genomic DNA library in step (2); (4) constructing the haploid genotype of the SNP sites on the thalassemia gene, combining the sequencing informationof the free DNA and the whole blood genomic DNA library, analyzing the genetic condition of the parent source and the genetic condition of the parent source, so as to determine the corresponding genotype of the SNP sites of the fetal. According to the method, target area capture and high-throughput sequencing technology are used, so that the noninvasive antepartum detection of the thalassemia isrealized; the required sample amount is small; on the basis of detecting the mutation of the parent source, the method can realize the detection of the gene mutation of the maternal source of the fetal.