994 results about "Gene polymorphism" patented technology

Since conventional DNA sequence analyzing technologies are based on the fundamental principle of fluorescent detection, expensive, complex optical systems and laser sources have been necessary.A field-effect device for gene detection of the present invention analyzes a base sequence by immobilizing a single-strand nucleic acid probe at a gate portion, inducing hybridization at the gate portion to form a double-stranded DNA, inducing elongation reaction by adding a DNA polymerase and one of the substrates, and measuring the electrical characteristic of the field-effect device caused by elongation reaction.Since the elongation reaction of one base induced at the gate portion can be directly converted to an electrical signal, expensive lasers or complex optical systems are not needed. Thus, a small gene polymorphism detection system that can conduct measurement at high precision can be provided.

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.

A computer system and methods are provided for mapping genotypes to phenotypes. The system includes a molecular network model and an optimizer. Functions of the molecular network model called trait functions are implemented to compute simulated phenotypes of the network. Simulated phenotypes are numerical properties of the molecular network that correspond to observed phenotypes which are observable properties of the biological system represented by the molecular network model. The optimizer optimizes the network to fit simulated phenotypes to observed phenotypes. The genotype to phenotype mapping system is useful in prediction of phenotypes, identification of phenotypic differences among polymorphic genotypes, determination of environmental effects on phenotypic development, determination of differences in patient response to a therapeutic agent due to genetic polymorphism, and genetic engineering of a target phenotype. Also provided are computer program products implementing the disclosed computer systems, computer data structures representing genotypic and phenotypic data, and computer readable media capable of storing such data structures.

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 claimed invention provides for new sample preparation methods enabling direct sequencing of PCR products using pyrophosphate sequencing techniques. The PCR products may be specific regions of a genome. The techniques provided in this disclosure allows for SNP (single nucleotide polymorphism) detection, classification, and assessment of individual allelic polymorphisms in one individual or a population of individuals. The results may be used for diagnostic and treatment of patients as well as assessment of viral and bacterial population identification.

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.

The gene responsible for encoding SERT has a functional polymorphism at the 5′-regulatory promoter region, which results in two forms, long (L) and short (S). The LL-genotype is hypothesized to play a key role in the early onset of alcohol use. The present invention discloses the differences in treatment and diagnosis based on the L or short genotypes as well as on a single nucleotide polymorphism of the SERT gene, the 3′ UTR SNP rs 1042173. The present invention demonstrates the efficacy of using the drug ondansetron and similar drugs for treatment based on variations in the polymorphisms of the SERT gene as well as methods for diagnosing susceptibility to abuse of alcohol and other addiction-related diseases and disorders.

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 provides a multiplex PCR combined pyrosequencing kit used for guiding individualized medication of warfarin and a detection method thereof, relating to warfarin. The kit comprises a whole blood genome DNA extraction reagent, multiplex PCR amplification primers, a multiplex PCR amplification reagent, a single-stranded DNA separating and purifying reagent, pyrosequencing primers, a pyrosequencing reagent and a kit body. The detection method comprises the following steps: extraction of human whole blood genome DNA; multiplex PCR amplification; separation and purification of a single-stranded DNA sample; and pyrosequencing and result analysis. According to the invention, main factors influencing difference of individual dosage of warfarin, i.e., important gene polymorphic sites of VKORC1 and CYP2C9, specifically being VKORC1-1639G>A, CYP2C9*2 and CYP2C9*3, are detected so as to guide individualized dosage of warfarin in treatment of patients needing to take warfarin, thereby achieving the purpose of reduction in side effects.

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 invention relates to a testing method of CYP2D6 gene exon 9's single nucleotide polymorphism, and meanwhile relates to a separation nucleic acid and an allel-specific nucleic acid primer. The method comprises steps as described below: firstly the confirmation of the 1332 nucleic acid showed in the SEQ ID No: 1 in the human CYP2D6 gene exon 9, then test of the existence of the single nucleotide polymorphism, specifically a separation nucleic acid with the SEQ ID NO: 1 and the 1322 position is A, an allel-specific nucleic acid primer with the length of 15 to 50bp and specifically hybridizes and amplifies the amplified products of the 1322 nucleic acid polymorphism showed in the SEQ ID No: 1 in the human CYP2D6 gene exon 9. The invention can be used to research the relation between CYP2D6 gene polymorphism in Chinese people and the clinical drug safety, and provide guidance to the development of new drugs.

The invention relates to a human HLA-B*5801 gene polymorphism detection kit. The human HLA-B*5801 gene polymorphism detection kit comprises PCR damping liquid, a specific primer, a specific probe, an interior label system, a Taq enzyme, a UNG enzyme, a weakly-positive control group and a blank control group, and also comprises a blood treating agent; a blood sample is simply treated and can be directly subjected to PCR amplification, the DNA extracting process is omitted, and operating time is saved. According to the human HLA-B*5801 gene polymorphism detection kit, the SNP probe is used in cooperation with the technology of the ARMS primer, and it is achieved that two different gene types are detected in one pipe; meanwhile, the interior label system is designed and used for monitoring the quality of the sample, and the weakly-positive control group and the blank control group are designed and used for monitoring the quality of the kit. The human HLA-B*5801 gene polymorphism detection kit for detecting HLA-B*5801 alleles has the advantages of being high in specificity and sensitivity, rapid and easy to operate, safe, objective in result interpretation and the like when being used for detecting HLA-B*5801 alleles.

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.