974 results about "Gene polymorphism" patented technology

The present invention provides methods of designing PCR primers that allow the efficient and simultaneous amplification of a large number of different desired DNA fragments in a single multiplex PCR and minimize the formation of nonspecific extensions of undesired DNA fragments. The present invention allows a multiplex PCR to use at least 50 pairs of primers and produce at least 50 DNA fragments of interest. The present invention significantly broadens the application of multiplex PCR in the identification of multiple genes related to multifactorial diseases, the genome-scale detection of genetic alterations, the studies in large-scale pharmacogenetic reactions, the genotyping genetic polymorphism in a large population, the gene expression profiling in various samples, and high throughput genotyping technologies.

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.

A method for determining whether a patient in need thereof will respond to anti-VEGF antibody based chemotherapy by screening a suitable cell or tissue sample isolated from the patient for at least one genomic polymorphism or genotype selected from (i) IL-8(−251); (ii) VEGF(936); or (iii) AM (3′ CA repeats), wherein the patient is suitably treated if the corresponding genotype is (i) (T/T) for IL-8(−251); (ii) (T/T or C/T) for VEGF(936); or (iii) at least one AM allele having 14 or more 3′ CA repeats.

The invention provides a polymerase chain reaction-sequence based typing (PCR-SBT) method for ABO blood type genotyping. The method comprises the following steps of: preparing human genome DNA; amplifying segments of ABO gene exon 1, exons 2-4 and exons 5-7; performing double enzyme digestion purification on the obtained amplified products; performing a sequencing PCR reaction on the purified products; purifying the sequenced products by a sodium acetate-ethanol precipitation method and performing capillary electrophoresis sequencing; and analyzing the obtained sequences by using software to determine the genotype. The method has the advantages of solving the problems of identification of an ABO subtype, judgment of difficult blood types, discovery of a new mutational site, gene recombination among genes, genetic polymorphism detection and the like, exerting the characteristics of high flux and result accuracy of ABO genotyping operation by PCR-SBT, achieving great importance for the relative application in the fields of clinical transfusion medicinal research, genetics and the like and having important practical significance for medicinal research units, pharmic research and reagent development units.

The invention discloses an MTHFR and MTRR gene polymorphism detection primer group and a kit. Mutation primers and probes aiming at three genetic loci have the advantages of being high in specificity and sensitivity. The prepared kit can detect MTHFR677, MTHFR1298 and MTRR66 gene polymorphism conditions, operation is simple, the experimental period is short, and the primer group and the kit are safe, free of toxicity, low in cost and suitable for clinical large-scale use and popularization.

The invention provides methods, nucleic acids, compositions and kits for predicting a subject's response to treatment with one or more vasopressin receptor agonists to identify subjects having a greater benefit from treatment with vasopressin receptor agonist(s). The method generally comprises determining a vasopressin pathway associated gene polymorphism genotype(s) of a subject for one or more polymorphisms in the these genes, comparing the determined genotype with known genotypes for the polymorphism that correspond with an improved response genotype to identify potential subjects having an inflammatory condition who are more likely to benefit from treatment with a vasopressin receptor agonist and subsequent to treatment recover from the inflammatory condition. The invention also provides for methods of treating such subjects with vasopressin receptor agonists based on the subject's genotype.

The invention relates to Factor H gene polymorphisms and haplotypes associated with an elevated or a reduced risk of AMD. The invention provides methods and reagents for diagnosis and treatment of AMD.

This invention features our discovery on usages of Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphisms in predicting homocysteine (Hcy) level and/or incidence and prognosis of diseases associated with increased Hcy level in a subject, as well as predicting treatment effects of medicines in the category of Angiotension Converting Enzyme Inhibihor (ACEI) with and without combination with B Vitamins. This invention also features our discovery on laboratory and analytical methods that are essential to the above described usages of MTHFR gene polymorphisms. In addition, this invention features a kit that has translated the above discoveries into a practical and reliable tool that can be applied to accomplish the above described usages of MTHFR gene polymorphisms. This invention represents an important step in realizing personalized medicine, with the goal to tailor diagnosis, prevention and treatment strategy to meet individual needs.

The invention relates to an ARMS fluorescent quantitative PCR-based gene mutation kit and a method thereof. Compared with present gene polymorphism detection kits and methods thereof, the enhanced ARMS fluorescent quantitative PCR-based gene polymorphism mutation kit and the method thereof have the advantages of strong specificity, high sensitivity, low cost, highly reliable result, low background, easy determination of the result, ascendant operation and use, fast and convenient fluorescent quantitative PCR, closed tube detection in the whole course, pollution reduction, and reduction of the unnecessary cost and workload. The fluorescent quantitative PCR can realize the characterization of the amplification efficiency by using a CT value, so the method can realize the detection of the nuclear gene polymorphism heterozygote genotype conditions, and makes the result accurately and reliably determined.

The invention relates to a kit and a method for detecting polymorphism of CYP2C19 gene, and belongs to the field of fluorogenic quantitive PCR (Polymerase Chain Reaction). The kit comprises a detection primer and a fluorescent probe, which comprise at least one group of specific primer and specific Taqman fluorescent probe of CYP2C19 gene CYP2C19*2 polymorphism, specific primer and specific Taqman fluorescent probe of CYP2C19 gene CYP2C19*3 polymorphism, and specific primer and specific Taqman fluorescent probe of CYP2C19 gene CYP2C19*17 polymorphism. The kit is adopted for detecting the CYP2C19 gene, the sensitivity and specificity are both obviously improved, the detection time is short and the predication of medicament dosage is facilitated.

The invention provides a human SLCO1B1 and ApoE (apolipoprotein E) gene polymorphism detection kit, comprising a PCR (polymerase chain reaction) buffer solution, dNTP (deoxy-ribonucleoside triphosphate), MgCl2, four groups of specific primers, four groups of specific probes, an internal standard system, HotStart Taq enzyme and UNG (uracil-N-glycosylase) enzyme. The detection kit has the advantages of high specificity, high sensitivity, ease and quickness of operation, high throughput, safety, objectiveness of result interpretation, and the like.

The invention discloses a primer system for detecting folic acidinheritancemetabolic capability and calcium absorptioninheritance to detect related genepolymorphic site (SNP). A product prepared on the basis of the primer system is capable of detecting folic acidinheritancemetabolic capability and calcium absorption related genepolymorphic sites simultaneously. By using the product, folic acidinheritancemetabolic capability related genepolymorphic sites are detected, reference bases are provided to instruct women preparing for pregnancy and pregnantwomen to take folic acid, and meanwhile detection on calcium absorption related genepolymorphic sites can also instruct the pregnant women to scientifically and reasonably supplement calcium nutrients in the pregnancy period. By adopting the primer system, 5 genepolymorphic sites on different genes can be simultaneously detected within one reaction system, the cost is relatively low when being compared with that of techniques such as sequencing and real-time fluorescence quantification PCR (Polymerase Chain Reaction), the operation is relatively simple, and the accuracy and the sensitivity are improved.

The invention relates to methods for detecting an altered susceptibility to breast and ovarian cancer in a subject carrying a BRCA mutation, comprising determining the nucleic acid sequence of a polymorphism of a microRNA-related gene.

The invention discloses primers for detecting ApoE gene polymorphism, a kit and a PCR (polymerase chain reaction) method for the primers or the kit. The primers include two sets of primers for detecting an rs429358 site and an rs7412 site respectively; the first set of primers include a mutant-type specific upstream primer of the rs429358 site, a wild-type specific upstream primer of the rs429358 site and a first downstream primer shared by the mutant-type specific upstream primer and the wild-type specific upstream primer of the rs429358 site; the second set of primers include a mutant-type specific upstream primer of the rs7412 site, a wild-type specific upstream primer of the rs7412 site and a second downstream primer shared by the mutant-type specific upstream primer and the wild-type specific upstream primer of the rs7412 site. The kit has the advantages of simplicity, quickness, accuracy and low price for detection and the like, and provides a powerful tool for scientific research and clinical analysis of ApoE gene typing and gene mutation.

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.

A method of using gene detection technique to provide active health service includes confirming gene polymorphism site carrier type of tested person by detecting phenotypic correlation gene polymorphism, confirming health genetic factor, forwarding personalized health guide and pharmacy report and gene typing detection report to tested person by using genetic factor as base and combining said base with investigation paper and body detection information of tested person.

The invention provides somatic mutation sites of pathogenic genes of the thyroid cancer and application thereof, specifically to a group of mutation sites of the pathogenic genes of the thyroid cancer. The mutation sites are composed of a GNAS gene mutation site, a NRAS gene mutation site, a TSHR gene mutation site, etc. The gene mutation sites provided by the invention can be used as markers for identification of benign and malignant thyroid nodules.

The present invention discloses a primer system for concurrently detecting 10 gene polymorphism sites related to genetic deafness. Based on the product prepared by the primer system, 10 gene polymorphism sites related to genetic deafness can be concurrently detected. Use of the product, genotypes of 10 gene polymorphism sites of a subject are detected, and the detection results can be used for assisted clinical diagnosis, and can further be used for epidemiological investigation, and can also be used for prenatal screening, neonate screening and other fields. With the present invention, 10 gene polymorphism sites on different genes can be concurrently detected in a reaction system, such that advantages of low cost, convenient operation, accuracy improvement and sensitivity improvement are provided compared with sequencing, real-time fluorescence quantitative PCR and other technologies.

The invention belongs to the field of biotechnologies and medicine, and provides a specific primer used for human CYP2C19 gene polymorphism detection. The nucleotide sequences of the primer are shown in SEQ ID NO:1-9. The invention further provides a kit for human CYP2C19 gene polymorphism detection. The primer and the kit are used for human CYP2C19 gene polymorphism detection and have the advantages of being high in specificity and sensitivity, easy and fast to operate and safe and having high flux, and result interpretation is objective.

The physiological regulation of intake, growth and energy partitioning in animals is under the control of multiple genes, which may be important candidates for unraveling the genetic variation in economically relevant traits in beef production. The present invention relates to the identification of single nucleotide polymorphisms (SNPs) within the bovine gene encoding mitochondrial transcription factor A (“TFAM”) and their associations with economically relevant traits in beef production. The invention further encompasses methods and systems, including network-based processes, to manage the SNP data and other data relating to specific animals and herds of animals, veterinarian care, diagnostic and quality control data and management of livestock which, based on genotyping, have predictable meat quality traits, husbandry conditions, animal welfare, food safety information, audit of existing processes and data from field locations.

The invention discloses a detection method for the CYP2C9 gene ninth exon single nucleotide polymorphism, belonging to the technical field of the genetic engineering. The method comprises the following steps: step one, by taking the CYP2C9 gene ninth exon in a GenBank database and the exon and intron joint part sequence as a template, a pair of allele-specific nucleic acid primers are designed; the primer pair is used for amplifying the DNA sequence of the CYP2C9 gene ninth exon; and then corresponding separated nucleic acids are obtained by conducting separation and purification on the amplified product; and step two, detection is carried out on the 1739-1740 nucleotides of the CYP2C9 gene ninth exon of the separated nucleic acids so as to fix whether single nucleotide polymorphism exists or not. The invention can be used for studying the relationship between the CYP2C9 gene polymorphism in the population of China and the clinical drug safety, and provides guiding basis for the research and development of new drugs.