69 results about "Risk gene" patented technology

The present disclosure provides methods for assessing a patient's cancer risk and / or recurrence risk, which methods comprise assaying, in a biological sample obtained from the gastrointestinal (GI) tract of the patient, an expression level of a risk gene. The present disclosure also provides methods involving a cancer risk / recurrence risk sequence, i.e. the V600E mutation of the BRAF gene, which is useful for assessing cancer risk and / or recurrence risk in a patient.

Genes, SNP markers and haplotypes of susceptibility or predisposition to T2D and subdiagnosis of T2D are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for T2D using polymorphisms in the T2D 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. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of T2D.

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 construction method of a gene expression classifier capable of predicting lung cancer patient prognosis. The method comprises a data training stage and a verification stage, wherein the training stage comprises a first stage and a second stage; at the first stage, a supervised machine learning method is used to establish a gene expression classifier prototype capable of predicting the lung cancer patient prognosis; and at the second stage, the machine learning method is further used to obtain the gene expression classifier capable of predicting the lung cancer patient prognosis. According to the method, the supervised machine learning method is used to obtain the gene expression classifier, and the prognosis of non-small cell lung cancer patients can be precisely predicted. The gene expression classifier has very high clinical transformation value. By performing gene expression detection of a gene panel, the non-small cell lung cancer patient with a high-risk gene risk score should receive adjuvant therapy, and the non-small cell lung cancer patient with a low-risk gene risk score should receive a low dose or be exempted from adjuvant therapy.

The invention relates to a gene detection kit for prognosing gastric cancer metastasis. The kit comprises a DNA library building kit, wherein the DNA library building kit comprises a high-risk gene probe and a low-risk gene probe; the high-risk gene probe comprises CDH1, CDH2, SNAIL, SLUG, MUC4, MUC6, PRSS3, USP6, MLH1, MSH2, MSH6, PMS2, TGFBR2, MMP2, MMP9, BRCA1, BRCA2, PALB2, ATM, ATR, MUTYH, EMSY, ERCC4, RAD51, PARP1 and XRCC1; the low-risk gene probe comprises ATRX, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FANCO, FANCP, MDM2, MDM4, MLH1, NPM1, PP2R1A, PRKDC, RAD50, STAG2, XRCC5 and CRCC6. The invention further discloses a use method of the kit. The use method comprises the following steps: extracting cfDNA in a blood sample; building a library for the cfDNA through the DNA library building kit, and then sequencing the DNA to obtain a gene overall length sequence; carrying out gene mutation analysis on the gene overall length sequence.

Genes, SNP markers and haplotypes of susceptibility or predisposition to hypertension (HT) are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for HT using polymorphisms in the HT 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 HT. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of HT.

The invention belongs to the technical field of polygene detection of gastric cancer, and discloses a gastric cancer detection panel based on a next-generation sequencing technology. According to theinvention, important exon regions and a part of intron regions of 557 genes are enriched by using a gene probe hybridization method, and high-depth sequencing is carried out, so events such as gene mutation, copy number variation and the like having clear clinical correlation with the gastric cancer can be accurately detected; and a multi-gene screening list is made into a probe, and high-risk genes are detected in a targeted mode through DNA sequencing, so gene mutation with guiding significance for diagnosis and treatment can be detected more efficiently, accurate typing of tumor patients are realized, and meanwhile, a plurality of tumor patients can be helped to participate in clinical tests.

Heteroplasmy mitochondrial DNA (mtDNA) markers and haplotypes of susceptibility or predisposition to atherosclerosis, coronary heart disease (CHD) and subdiagnosis of atherosclerosis and CHD and related medical conditions are disclosed. The biomarkers may be selected from the following heteroplasmy makers: 652lns / del G; A1555G; C3256T; T3336C; G12315A; G13513A; G14459A; G14846A; G15059A. Methods and kits for diagnosis, subdiagnosis, and prediction of clinical course and efficacy of treatments for CHD, atherosclerosis and related phenotypes using heteroplasmy in the risk genes and loci and other related biomarkers are thus provided. Novel methods for prevention and treatment of atherosclerosis, CHD and related conditions based on the disclosed CHD genes, loci, polypeptides and related pathways are also provided.

Genes, SNP markers and haplotypes of susceptibility or predisposition to hypertension (HT) are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for HT using polymorphisms in the HT 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 HT. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of HT.

The invention discloses a personalized prognosis evaluation method for gastric cancer on the basis of amultigene expression characteristic spectrum. The method comprises the following steps that: obtaining a gastric cancer prognosis risk gene list and gene weight; utilizing a gastric cancer patient tumor tissue transcriptome and survival data to construct a prognosis evaluation model; according tothe gene expression spectrum of a gastric cancer patient tumor tissue, calculating the risk score of the patient; and according to the risk score of the patient, calculating the annual survival probability of the patient. The annual survival probability, which is calculated with the method of the invention, of the gastric cancer patient has consistent height with a practical annual survival ratio(linear correlation R2 is equal to 0.980, and a P value is equal to 1.62E-17). The method is proved to have high prediction accuracy which is highly matched with the practical survival state. Meanwhile, for each tumor patient, the method disclosed by the invention can give the specific survival probability curve of the patient.

Genes, SNP markers and haplotypes of susceptibility or predisposition to CHD such as AMI are disclosed. Methods for diagnosis, prediction of clinical course and efficacy of treatments for AMI using polymorphisms in the AMI 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 AMI and CHD. Kits are also provided for the diagnosis, selecting treatment and assessing prognosis of CHD and AMI.

The invention discloses an SNP (Single Nucleotide Polymorphism) marker for detecting the diseasing risk of gestational diabetes mellitus. The SNP marker comprises 12 SNP sites of a personal genome, wherein the 12 SNP sites are rs7903146, rs12255372, rs 5219, rs7754840, rs4402960, rs1387153, rs10830963, rs2237892, rs1801278, rs1799884, rs1801282 and rs1063192. The SNP marker disclosed by the invention has the beneficial effects that the SNP sites selected in the invention summarize the scientific article results published at home and abroad since 1994-2016, find risk gene sites with consistentresults as detection target points, simultaneously consider the mutual action between genes and solve the problems of imperfect early screening methods and high missed-diagnosis rate for GDM on the current clinics; and after introduction of gene detection, the missed-diagnosis rate of early screening can be greatly reduced, the benefit for early intervention can be achieved and the diseasing riskof the gestational diabetes mellitus can be effectively reduced.

The invention discloses a kit for detecting bladder cancer-related risk genes. The kit includes a specific primer pair and a specific fluorescent probe pair for simultaneously detecting a No. rs9642880 SNP locus on an MYC gene and a No. rs2294008 SNP locus on a PSCA gene, a conventional component for fluorescent quantitative polymerase chain reaction (PCR) detection and the like. The kit can assess risk that an individual suffers from bladder cancer through simultaneously detecting MYC and PSCA single nucleotide polymorphic locus genotypes which are closely related to psoriasis.

The invention belongs to the technical field of biology, discloses a gene group capable of evaluating primary lung adenocarcinoma molecular typing and survival risk, and discloses application of reagents for detecting gene expression levels of the gene group in preparing in-vitro diagnostic products for evaluating primary lung adenocarcinoma molecular typing and survival risk. The in-vitro diagnostic products comprise a Next Generation Sequencing (NGS) detection kit, a fluorescent quantitative PCR detection kit, a gene chip and a protein array. The invention further discloses a method for evaluating primary lung adenocarcinoma molecular typing and survival risk by utilizing the detection kits. The method disclosed by the invention has high accuracy on evaluation of primary lung adenocarcinoma subtype typing and survival risk.

The present invention provides methods for detecting the risk of developing leukemia using genotyping analysis, for example of a SNP located in the promoter region of EPO. The present invention also provides kits and nucleic acids for the detection of the risk genotype.

The invention belongs to the technical field of liver cancer polygene detection, and discloses a liver cancer detection panel based on a next-generation sequencing technology. Important exon regions and partial intron regions of 557 genes are enriched by using a gene probe hybridization method, and high-depth sequencing is carried out, so that events such as gene mutation and copy number variation which have clear clinical correlation with liver cancer are accurately detected; and a polygene screening list is made into a probe, and high-risk genes are detected in a targeted mode through DNA sequencing, so that gene mutation with guiding significance for diagnosis and treatment can be detected more efficiently, and important guiding significance is achieved for clinical diagnosis and discovery of targets of targeted therapy.

A kit for detecting esophagus cancer related risky genes is disclosed. The kit includes: specific primer pairs, specific fluorescence probe pairs, common components for fluorogenic quantitative PCR detection; and the like, wherein the specific primer pairs and the specific fluorescence probe pairs are used for simultaneously detecting a number rs2274223 SNP site on a PLCE1 gene, a number rs13042395 SNP site on a C20orf54 gene, a number rs2074356 SNP site on a C12orf51 gene, a number rs2014300 SNP site on an RUNX1 gene, a number rs11066015 SNP site on an ACAD10 gene and a number rs10052657 SNP site on a PDE4D gene. The kit evaluates the risk of esophagus cancer for a person through simultaneously detecting single nucleotide polymorphic site genotypes of the PLCE1, the C20orf54, the C12orf51, the RUNX1, the ACAD10 and the PDE4D which are closely related with the esophagus cancer.

The invention discloses a kit for detecting relative risk gene of liver cancer. The kit comprises a specific primer pair and a specific fluorescence probe pair for simultaneously detecting an rs2596542# SNP locus on an MICA gene and an rs9275572# SNP locus on an HLA-DQ gene and a conventional component for fluorogenic quantitative PCR detection. According to the kit, the risk of suffering liver cancer is evaluated by simultaneously detecting the single nucleotide polymorphism locus gene type of MICA and HLA-DQ closely related to liver cancer.

The invention discloses a polygenic expression characteristic spectrum based glioblastoma individual prognosis evaluation method. The method comprises the steps of obtaining a prognosis risk gene listand a gene weight of a glioblastoma; building a prognosis evaluation model by utilizing a tumor tissue transcriptome and survival data of a glioblastoma patient; calculating a risk score of the patient based on a gene expression spectrum of tumor tissues of the glioblastoma patient; and calculating the annual survival probability of the patient based on the risk score of the patient. A fact thatannual survival probability of the glioblastoma patient obtained by the method is highly consistent with the actual annual survival rate (the linear correlation R2=0.963, and P value=1.38 E-13) provesthat the method has very high prediction accuracy and is highly consistent with the actual survival state. At the same time, for each tumor patient, the polygenic expression characteristic spectrum based glioblastoma individual prognosis evaluation method can work out the special survival probability curve of the patient.

A correlation analysis method for identifying Alzheimer's disease related biomarkers comprises the following steps: based on sparse non-negative matrix factorization of joint connectivity, projecting structural magnetic resonance imaging (SMRI), single nucleotide polymorphism (SNP) and gene expression data into a public feature space at the same time; and also adding the connectivity information and genetic data of each region of the brain as priori knowledge to identify a region of interest ROI, risk SNP sites and risk genes associated with Alzheimer's disease patients and early cognitive impairment patients. The method has higher correlation analysis capability and better anti-noise performance and biological interpretation performance.

The invention discloses an individual cervical cancer prognosis evaluation method based on a poly-gene expression characteristic spectrum. The method comprises the following steps: acquiring a cervical cancer prognosis risk gene table and a gene weight; establishing a prognosis evaluation model by using cervical cancer patient tumor tissue transcriptome and survival data; according to a gene expression spectrum of tumor tissue of a patient suffering from cervical cancer, calculating a risk score of the patient; according to the risk score of the patient, calculating a survival probability of the patient each year. By adopting the method disclosed by the invention, the survivals probability of the patient suffering from cervical cancer each year is highly accordant with an actual survival rate each year (linear relationship R2=0.988, a P value=5.04E-38). Tests show that the method has very high prediction accuracy, and is highly coincided with an actual survival state. Meanwhile, for each tumor patient, a unique survival probability of the patient can be drawn by using the method.

A reorganization of genomic data into a simpler standard form leads to more transparent data analyses. The customary selection practice that focuses on high odds ratios loci is shown to be biased, reflecting quality of presently reported risk loci for T2D. A selection criterion, based on Shannon information theory, brings clarity to this issue and provides a rational and optimal basis for selecting potential risk loci. This is used to determine an optimal disease classifier. Within the framework of the FUSION database this leads to a relatively successful degree of T2D prediction and nearly an order of magnitude more effective in detecting T2D. Chromosome 7 is strongly associated with T2D. A hypothesis of this study is that the genomic disease signal is possibly weak, and instead of focusing on individual loci a collection of loci contribute to a composite Score, which functions as the determinant of disease or its absence.

The invention provides a detection method and a kit for rapid screening CTG repeated amplification of a high-risk gene TCF4 for Fuchs endothelial corneal dystrophy. The incidence rate of the Fuchs endothelial corneal dystrophy in people over 40 years of age in Europe and America is 5 percent, with about 70 percent of patients presenting CTG repeated amplification of the TCF4. Components in the kitinclude DNA polymerases, a reaction solution, an enhancer, dNTPs, a specific primer and a standard control. Through a CG-content PCR system, after fluorescence scanning of high-thermal-stability DNApolymerase amplification CTG repetition, an interval, in which CTG of a sample to be tested can be accurately distinguished from a standard substance. The kit provided by the invention is suitable forrapid screening whether the number of CTG repetitions of Fuchs endothelial corneal dystrophy sites TCF4 is normal or amplified individuals of all ages or with a large sample quantity, so that effective treatment strategies for various stages are proposed and made for high-risk people, and screening is performed on a corneal transplantation donor. The kit has the characteristics of accuracy, rapidness, high flux, small sample quantity and low cost.

The invention discloses a primary hepatocellular carcinoma molecular typing and survival risk gene group, a diagnosis product and application. The gene group comprises 62 molecular typing and survivalrisk assessment related genes and 6 reference genes, wherein the 62 molecular typing and survival risk assessment related genes consist of 18 cell proliferation related genes, 5 immunity related genes, 21 extracellular matrix related genes, 17 exosome related genes and 1 FTH family gene. The diagnosis product comprises a reagent used for detecting an expression level of the genes in the gene group. The primary hepatocellular carcinoma molecular typing and survival risk gene group and the diagnosis product have higher accuracy in primary hepatocellular carcinoma molecular typing and survival risk assessment by screening the specific gene group and detecting the expression level of the genes in the gene group.

The invention relates to a kit for predicting lung cancer metastasis, and a usage method of the kit. The kit comprises a DNA library kit which comprises probes of multiple genes, and the multiple genes comprise: high-risk genes: BRCA1, BRCA2, PALB2, ATM, ATR, MUTYH, EMSY, ERCC4, RAD51, PARP1 and XRCC1; and low-risk genes: ATRX, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FANCO, FANCP, MDM2, MDM4, MLH1, NPM1, PP2R1A, PRKDC, RAD50, STAG2, XRCC5, XRCC6. Through performing related mutation detection to the related genes of DNA repair system signal paths, lung cancer metastasis can be rapidly and conveniently judged and predicted by combining a special rating mechanism.

The invention discloses a streptococcus thermophilus and an application thereof, the streptococcus thermophilus is screened from farmhouse self-made yoghourt, and the streptococcus thermophilus has extremely strong capacity of relieving inflammatory reaction, and does not have risk genes such as plasmids and transfer elements; the streptococcus thermophilus has a strong inhibition capability on macrophage inflammatory reaction caused by LPS; the streptococcus thermophilus has strong protection capability on organ injuries caused by sepsis models constructed by CLP and LPS, can relieve inflammatory reaction of patients with sepsis, and is beneficial to development of medicines for relieving sepsis related symptoms.

The invention belongs to the technical field of nervous system tumor multi-gene detection, and discloses a gene panel for detecting nervous system tumors, important exon regions and partial intron regions of 454 genes are enriched by using a biological probe hybridization method, and the detection and analysis contents comprise somatic mutation, embryonic mutation, copy number variation, fusion gene and other variation, which aims to achieve accurate detection. The multi-gene screening list is made into a probe, high-risk genes are detected in a targeted mode through hybridization capture sequencing, gene mutation with guiding significance on diagnosis and treatment can be detected more efficiently, the gene detection cost of patients and the operation difficulty of experimenters can be reduced, meanwhile, some tumor patients can be possibly helped to participate in clinical tests, and important guiding significance is provided for clinical diagnosis and discovery of target spots of targeted therapy.

The invention discloses electronic equipment for determining risk factors of Alzheimer's disease, which comprises a memory and a processor, when the processor executes the computer program, the processor is used for performing structure information aggregation on brain region-gene networks of a plurality of testees through a structure information aggregation model, extracting edge features and then outputting a judgment result of the probability that each testee is a patient with the Alzheimer's disease (AD); determining the importance degree of each node in the brain region-gene network of the AD patient according to the closeness degree of the output judgment result and the real situation; determining nodes serving as AD risk elements in the brain region-gene network according to the importance of the nodes; wherein the testees comprise a plurality of normal persons and AD patients. By applying the method, the lesion brain region and the risk gene of AD can be more accurately determined, so that targeted drug development and targeted transcranial magnetic therapy are facilitated.

Provided is a method of preparing an orange peel ferment, an orange peel ferment obtained therefrom, and a method for reducing fat accumulation, sleep disturbance, and cancer risk. The orange peel ferment assists obese individuals to slim down via multiple mechanisms including reducing the fat content of adipocytes, promoting lysis of triglycerides in adipocytes, and enhancing the expression of genes involved in fat metabolism, and also reduces sleep disturbance through normalizing circadian rhythm and lowers cancer risk through suppressing expression of cancer risk genes.