423 results about "Susceptibility gene" patented technology

A role of the human PDE4D gene in stroke is disclosed. Methods for diagnosis, prediction of clinical course and treatment for stroke using polymorphisms in the PDE4D gene are also disclosed.

The present invention provides the identification of a number of SNPs that are associated schizophrenia, schizoaffective disorder, bipolar disorder and related mental disorders which were found to be strongly linked to individuals with the disease. The invention provides SNP locations on human chromosome 6, as well as methods of making PCR primers and assays for detecting the SNPs in tested individuals.

Linkage of myocardial infarction (MI) and a locus on chromosome 13q12 is disclosed. In particular, the FLAP gene within this locus is shown by genetic association analysis to be a susceptibility gene for MI and ACS, as well as stroke and PAOD. Pathway targeting for treatment and diagnostic applications in identifying those who are at risk of developing MI, ACS, stroke or PAOD, in particular are described.

The invention discloses a fluorescence detection kit capable of detecting 17 non-syndromic hereditary hearing loss susceptibility genes. The kit adopts 17 pairs of specific primers to conduct genetic typing on the hearing loss susceptibility genes, and 17 hotspot mutations in four most common Chinese hearing loss related genes can be detected at the same time in a single tube within 3 hours. The kit comprises primer combinations of 17 polymorphic sites of hereditary hearing loss on a GJB2 (CX26) gene, an SLC26A4 (PDS) gene, a GJB3 gene and a 12SrRNA (MTRNR1) gene, can be used for accurately judging the wild type, the pure mutant type or the hybrid type of the 17 sites, and achieves diagnosis and screening of the hearing loss genes. The kit provided by the invention can be applied to rapidly and efficiently detecting the hearing loss genes and is a rapid, convenient, economical and efficient screening kit for hearing loss virulence genes.

Linkage of myocardial infarction (MI) and a locus on chromosome 13q12 is disclosed. In particular, the FLAP gene within this locus is shown by genetic association analysis to be a susceptibility gene for MI and ACS, as well as stroke and PAOD. Pathway targeting for treatment and diagnostic applications in identifying those who are at risk of developing MI, ACS, stroke or PAOD, in particular are described. The invention also provides for compositions comprising a leukotriene synthesis inhibitor and a stating and methods of using these compositions to reduce C-reactive protein in a human subject at risk of MI, ACS, stroke and / or PAOD.

The invention relates to a disease risk predication method and system. The method comprises the following steps of: S1, receiving input gene sequencing result information; analyzing the input gene sequencing result information to obtain all mutant gene information; S2, looking up disease gene mutant information of corresponding gene sites from a precision medical knowledge base according to the gene sites corresponding to the mutant gene information, so as to obtain at least one piece of disease gene mutant information; S3, matching each piece of the disease gene mutant information with all the disease gene mutant information to obtain the similarity of each piece of the mutant gene information, and all the disease gene mutant information; and S4, obtaining a risk predication table aiming at the gene sequencing result information according to the similarity of each piece of the mutant gene information, and all the disease gene mutant information. By analyzing an association relation of susceptibility genes, mutation sites, mutation types and diseases, disease risk predication is carried out on healthy people and general disease risk grade predication is provided; disease risks in the future are reduced.

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 discloses a chip and method for capturing target sequences of tumor susceptibility genes, and a mutation detection method. The chip is a liquid chip which binds with probe groups capable of simultaneously capturing at least 5, preferably at least at least 10, preferably at least at least 20, preferably at least at least 30, preferably at least at least 50, preferably at least at least 80, preferably at least at least 100, preferably at least at least a10, or preferably all of 115 genetic tumor susceptibility genes as shown in a table 1. The mutation detection method comprises a step of capturing the target sequences of the genetic tumor susceptibility genes by using the liquid chip and a step of carrying out sequencing by using G2 high-flux sequencing technology so as to find out mutation sites. The mutation detection method has the advantages of a wide application scope, high efficiency, comprehensiveness and easy operation, can detect replacement of a single base, insertion or deletion of a single base / multiple bases and deletion / amplification of large fragments and is capable of realizing high-efficiency comprehensive detection of common tumor susceptibility gene mutation.

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 probe set and a reagent kit used for detecting pathopoiesia / susceptibility genes of congenital megacolon and relative syndromes. At most 172 pathopoiesia / susceptibility genes related to diseases can be detected at the same time, and reference can be provided for affected individual molecular genetics diagnosis, mass survey of congenital megacolon high-incidence areas, screening of high-risk affected groups in congenital megacolon family members and corresponding genetic counseling or prenatal intervention.

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 the field of gene engineering and provides a method and a kit for detecting a susceptibility gene of colorectal cancer. The method for detecting the susceptibility gene of the colorectal cancer comprises the following steps: A, amplifying a plurality of object regions in samples to be detected by using a colorectal cancer susceptibility gene specific primer, and constructing a sequencing library on the basis of an amplified product; B, carrying out single molecule amplification on the sequencing library to obtain a plurality of single molecule amplified products corresponding to the target regions; and C, simultaneously carrying out high throughout gene sequencing on the single molecule amplified products to obtain the sequence information of the object regions. According to the detection method and the kit provided by the invention, the regions of the colorectal cancer susceptibility gene are simultaneously sequenced by using a high throughout sequencing technology, so that the detection efficiency is increased and the detection cost is reduced; and meanwhile, the accuracy and the sensitivity of detection are improved.

Genes, SNP markers and haplotypes of susceptibility or predisposition to T2D and subdiagnosis of T2D and related medical conditions are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for T2D, obesity and related phenotypes using polymorphisms in the risk genes are also disclosed. The genes, gene products and agents of the invention are also useful for monitoring the effectiveness of prevention and treatment of T2D and related traits. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of T2D. Novel methods for prevention and treatment of metabolic diseases such as T2D based on the disclosed T2D genes, polypeptides and related pathways are also disclosed.

The invention discloses a fluorescent detection kit for detecting 12 deafness predisposing genes simultaneously. The kit can detect 12 mutational hotspots in the most common deafness associated genes of the Chinese in 3 hours. The kit comprises reagents before amplification and reagents after amplification, wherein the reagents before amplification comprise a polymerase chain reaction (PCR) buffer solution, a reaction mixture of MgCl2 and deoxyribonucleoside triphosphates (DNTPs), Taq DNA polymerase, ultrapure water, and a primer mixture for amplifying loci of detection sites at high specificity; and the reagents after amplification comprise a genotyping standard and an internal standard. Deafness gene loci are simultaneously detected at high sensitivity and high specificity by combining a fluorescent labeling technology, a linolenic acid (LNA) nucleoside monomer doping-primer modification technology and a capillary electrophoresis technology for the first time, manpower and material resources and time are greatly saved, and pollution due to multi-step operation is prevented.

The invention belongs to the molecular biology and medicine field and relates to a method for detecting a susceptibility gene of hypertension and a detection kit thereof. The invention provides a method for detecting a susceptibility gene of essential hypertension, comprising the step of detecting the genetype of a mitochondrion fusion gene 2(Mfn2) / hyperplasia suppressor gene (HSG) locus rs7550536. The individual, rs7550536 of which carries the T genetype has obviously higher susceptibility of hypertension than the common people. The invention also discloses the corresponding detection kit which contains a primer amplifying the locus rs7550536 and a primer amplifying the region of the locus rs7550536 contained in the No.14 intron of the Mfn2 gene. Being used for detecting the genetype of the locus rs7550536, the method is simple and practicable, fast and efficient and low in cost and provides a simple and direct new way for hypertension diagnosis and treatment.

The invention belongs to the field of molecular biology and medicine, relating to a method for detecting a hypertension susceptibility gene and a detection kit thereof. The method for detecting a primary hypertension susceptibility gene comprises the following step of: detecting the genotype of the rs2295281 locus of a mitochondrion fusion gene 2(Mfn2) / a hyperplasia suppressor gene (HSG). The hypertension susceptibility of an rs2295281 individual with a genotype C is remarkably higher than that of the general public. The invention also discloses the corresponding detection kit. The detection kit contains a primer for amplifying the rs2295281 locus and can also contain the primer for amplifying a region comprising the rs2295281 locus in an eighth intron of the Mfn2 gene. The genotype of the rs2295281 locus is detected by adopting the method. The invention has simple and easy method, quick speed and high efficiency and low cost and provides a novel shortcut approach for diagnosing and treating hypertension.

The invention belongs to the molecular biology and medicine field and relates to a method for detecting a susceptibility gene of hypertension and a detection kit thereof. The invention provides a method for detecting a susceptibility gene of essential hypertension, comprising the step of detecting the genetype of a mitochondrion fusion gene 2(Mfn2) / hyperplasia suppressor gene (HSG) locus rs2336384. The individual, rs2336384 of which carries the G genetype has obviously higher susceptibility of hypertension than the common people. The invention also discloses the corresponding detection kit which contains a primer amplifying the locus rs2336384 and a primer amplifying the region of the locus rs2336384 contained in the No.2 intron of the Mfn2 gene. Being used for detecting the genetype of the locus rs2336384, the method is simple and practicable, fast and efficient and low in cost and provides a simple and direct new way for hypertension diagnosis and treatment.

The invention belongs to the fields of molecular biology and medicine, and relates to a method and a kit for detecting the polymorphic site of high blood pressure susceptibility gene. The invention provides the method for detecting the polymorphic site of the high blood pressure susceptibility gene, which comprises the following step of detecting the gene type of human mitofusin gene 2 (Mfn2) rs3820189 site, wherein the rs3820189 is provided with an individual of T gene type, and the susceptibility of the high blood pressure is obviously higher than common crowd. The invention further discloses a corresponding detection kit which comprises a primer amplifying the rs3820189 site, and a primer amplifying a region of Mfn2 gene 5' guide sequence, comprising the rs3820189 site. The method is used for detecting the gene type of the rs3820189 site, and is simple and practical, quick and high-efficiency, and lower in cost, so that a simple new way for diagnosing and treating the high blood pressure is provided.

The invention relates to a method for acquiring characterization parameters of hypertension and complication. The method comprises the following steps of: 1) establishing a hypertension and complication susceptibility gene database; 2) constructing an individual hypertension and complication characterization parameter analysis platform according to the hypertension and complication susceptibility gene database established in the step (1); 3) analyzing individual hypertension and complication characterization parameters based on the analysis platform constructed in the step (2); and 4) outputting individual hypertension and complication characterization parameters. The invention provides a method for acquiring the hypertension and complication characterization parameters which can acquire accurate characterization information, can acquire the information timely and can lay a foundation for follow-up treatment work.

The invention discloses a gene chip for detecting mutation of 18 loci of susceptibility genes of type 2 diabetes. The chip takes probes shown as SEQ ID No.1-36 which are fixed on a solid phase carrier as a detection system, and further comprises positive control, negative control and parallel control which form a quality control system package. The invention also discloses supporting primers for the detection of the gene chip. The primers can perform polymerase chain reaction (PCR) at the same annealing temperature, amplify and accomplish Cy3 marking at the same time, and perform hybridization reaction at one time to detect the 18 gene loci. The gene chip has the advantages of accurate detection result, fastness and high efficiency, can systematically screen the mutation of the 18 loci ofthe susceptibility genes of the type 2 diabetes which are reported at home and abroad at present, and is suitable for large-sample low-cost association studies on the susceptibility genes of the type2 diabetes.

The invention relates to the field of genetic engineering, and provides a method and a kit for assaying breast cancer susceptibility genes. The method for assaying breast cancer susceptibility genes includes the following steps: (A) breast cancer susceptibility gene specific primers are utilized to amplify a plurality of target regions in a sample to be assayed, and a sequencing library is constructed on the basis of amplification products; (B) the single-molecule amplification of the sequencing library is carried out, so that a plurality of single-molecule amplification products corresponding to the target regions are obtained; (C) the high-throughput gene sequencing of the single-molecule amplification products is carried out simultaneously, so that the sequence information of the target regions is obtained. The method and the kit for assaying breast cancer, which are provided by the invention, can assay a plurality of regions of a breast cancer susceptibility gene at the same time, consequently, the efficiency of assay is increased, the assay cost is reduced, and in addition, the sensitivity of assay and the comprehensiveness and accuracy of the assay result are increased as well.

The invention relates to a method for obtaining characterization parameters of diabetes mellitus and complications. The method comprises the following steps of: 1) establishing a diabetes mellitus and complications susceptibility gene database; 2) establishing a personal diabetes mellitus and complications characterization parameters analysis platform according to the database; 3) analyzing personal diabetes mellitus and complications characterization parameters based on the analysis platform; and 4) outputting the personal diabetes mellitus and complications characterization parameters. The invention provides the method for obtaining the characterization parameters of the diabetes mellitus and complications, so that obtained characterization information is accurate, the information is obtained in time, and the foundation is laid for follow-up treatment work.

The invention discloses a kit for detecting deafness susceptibility genes, namely the invention provides a kit for rapidly and accurately detecting the GJB2, SLC26A4 and 12SrRNA deafness susceptibility genes by virtue of an MALDI-TOF mass-spectrometry technique. The kit mainly consists of the following ingredients: PCR amplification products shown as SEQ ID NO:1-SEQ ID NO:32 and mass-spectrometry extension primers shown as SEQ ID NO:33-SEQ ID NO:48. The kit provided by the invention, by combining the mass-spectrometry technique and a multi-primer extension technique, is relatively simple in adopted reagent consumables, low in cost and stable, and dozens to thousands of samples are analyzed in one reaction, so that loss caused by reagent preparation is reduced; and the kit is quite high in sensitivity, accuracy and detection consistency, and detection throughput is improved.

The invention provides a probe group for detecting pathogenic / susceptible genes of hereditary cardiomyopathy / arrhythmia, and provides application of a reagent for detecting pathogenic and / or susceptible genes of the cardiomyopathy in preparing products for diagnosing the cardiomyopathy. The reagent can capture various pathogenic and / or susceptible genes of the cardiomyopathy, and at most 312 related genes can be detected simultaneously. The invention further provides a probe group for detecting the pathogenic and / or susceptible genes of the cardiomyopathy and a kit containing the probe group.The probe group and the kit containing the probe group can be used for molecular genetic diagnosis of a sick individual and family screening of the sick family members, and have important clinical significance to early intervening treatment of the mutation carriers. Meanwhile, the probe group and the kit have the advantages of being high in efficiency, multiple in detection sites, accurate, easy to operate, good in specificity, high in sensitivity, rapid, high in practicability and low in cost.

The invention relates to the field of gene detection, and particularly relates to a kit and method for detecting an aminoglycoside drug-induced deafness-sensitive gene through a fluorescent PCR (polymerase chain reaction)-melting curve method. The technical scheme of the invention provides a kit for detecting an aminoglycoside drug-induced deafness-sensitive gene. The kit comprises a PCR solution, a negative quality control sample and a positive quality control sample, wherein the PCR solution comprises primers, a PCR Buffer, a dNTP (deoxyribonucleotide triphosphate) mixed solution, saturated fluorescent dyes, a Taq enzyme and a UNG enzyme. In the invention, the specific PCR primers are designed according to SNP (single nucleotide polymorphism) sites of the aminoglycoside drug-induced deafness-sensitive gene, two aminoglycoside drug-induced deafness-sensitive sites can be detected in one PCR, the operation can be finished in one tube, and the detection is quick, accurate and wide in range.

The invention relates to a kit for detecting susceptibility gene SNP locus of nasopharynx cancer, which is realized through the steps as follows: detecting a PCR amplimer and a single-base extension primer of an SNP locus rs2860580 of a susceptibility gene CDKN2A-CDKN2B of nasopharynx cancer; detecting PCR amplimers and single-base extension primers of SNP loci rs1572072 and rs9510787 of a susceptibility gene TNFRSF19 area of nasopharynx cancer; detecting PCR amplimers and single-base extension primers of SNP loci rs28421666,rs2860580 and rs2894207 of a susceptibility gene HLA of nasopharynx cancer; and detecting a PCR amplimer and a single-base extension primer of an SNP locus rs6774494 of a susceptibility gene MDS1-EVI1 of nasopharynx cancer. The kit provided by the invention can be used for simultaneously detecting the SNP loci of a plurality of susceptibility genes of nasopharynx cancer, and provides reference for estimating risk degree of individuals affected by nasopharynx cancer, general survey of populations with high nasopharynx cancer incidence, screening of high risk group attacked by nasopharynx cancer and implementation of relative precautionary measures.

The invention provides a method for detecting pathogenic genes of other system diseases causing cardiovascular symptoms, and provides application of a reagent for detecting pathogenic and / or susceptible genes of other systemic diseases causing cardiovascular symptoms in preparing products for diagnosing other systemic diseases causing the cardiovascular symptoms. The reagent can detect at most 263diseases related genes simultaneously, and a reference can be provided for genetic diagnosis and personalized treatment of sick individuals so as to study causes of other systemic diseases causing the cardiovascular symptoms and to assess risk factors for early intervention and early treatment.

The invention relates to kits for predicting paranoid schizophrenia susceptibility and primers therefor. More particularly, the invention relates to kits and primers for predicting paranoid schizophrenia susceptibility which designed by utilizing six single nucleotide polymorphism (SNP) site combinations of the paranoid schizophrenia susceptible genes COMT, ALDH, ADH and MAO. The invention also relates to applications of the COMT, ALDH, ADH and MAO genes for preparing diagnostic agents for predicting paranoid schizophrenia susceptibility.