105 results about "Genetic predisposition" patented technology

A personalized physiological monitor utilizes an individual genome sequence along with genetic and medical research databases so as to define a person's genetic predisposition to disease, drug reactions and environmental sensitivities so as to enhance the ability of the monitor to determine the physiological status of the person.

A method and kit for predicting increased risk of sight-threatening diabetic retinopathy which includes isolating genomic DNA from a sample from a diabetic patient. The genetic polymorphism pattern for the genes IL-1A, IL-1B and IL-1RN is then identified in the DNA. The identified pattern is compared with control patterns of known polymorphisms, and patients expressing a genetic polymorphism pattern associated with increased risk of sight-threatening diabetic retinopathy are identified.

Described are non-invasive methods of detecting the presence of specific nucleic acid sequences as well as nucleic acid modifications and alterations by analyzing urine samples for the presence of transrenal nucleic acids. More specifically, the present invention encompasses methods of detecting specific fetal nucleic acid sequences and fetal sequences that contained modified nucleotides by analyzing maternal urine for the presence of fetal nucleic acids. The invention further encompasses methods of detecting specific nucleic acid modifications for the diagnosis of disease, such as cancer and pathogen infections, and detection of genetic predisposition to various disease. The invention specifically encompasses methods of analyzing specific nucleic acid modifications for the monitoring of cancer treatment. The invention further encompasses methods of analyzing specific nucleic acids in urine to track the success of transplanted cells, tissues and organs. The invention also encompasses methods for evaluating the effects of environmental factors and aging on the genome.

The present invention pertains to cannabinoid (CB) receptor inverse agonists and neutral antagonists, and especially CB1 and CB2 inverse agonists and neutral antagonists; such as, for example, certain pyrazole compounds; their use in the inhibition of osteoclasts (for example, the inhibition of the survival, formation, and / or activity of osteoclasts), and / or in the inhibition of bone resorption; their use in connection with treatment of bone disorders, such as conditions mediated by osteoclasts (e.g., increased osteoclast activity) and / or characterised by (e.g., increased) bone resorption, such as osteoporosis (e.g., osteoporosis not associated with inflammation; e.g., osteoporosis associated with a genetic predisposition, sex hormone deficiency, or ageing), cancer associated bone disease, and Paget's disease of bone.

The present invention is directed to methods for atherosclerosis risk reduction including initial risk stratification, goal setting, and goal attainment for patients with, or at risk for, atherosclerosis. The present invention may be embodied in a computer implemented software product, the modules and sub-routines resident on a computer or hand held device, allowing a physician to determine the best strategy for coronary artery disease prevention based on such risk assessment values as Framingham score, genetic predisposition, biomarker levels and atherosclerosis imaging scores. The software product is supported by a backend database containing risk assessment value scores for a patient population of known clinical outcome. The database may reside in a memory unit, such as a hard drive, of the computer or hand held device, or may be accessed remotely in a distributed computer environment.

Described herein are assays, kits and methods for treating depression, including the diagnosis and treatment of depression based on the determination of genetic predispositions towards inhibition or enhancement of Ca2+ / calmodulin-dependent protein kinase II (CaMKII). For example, described herein are methods and kits (including assays) for determining if one or more gene in an excitatory or inhibitory pathway for modulating CaMKII activity or expression is likely to be inhibited or enhanced by an SNP. Also described are methods and kits (including assays) for prescribing treatment based on the identification of SNPs that may modulate CaMKII.

The present invention relates to an in vitro method for diagnosing a genetic predisposition or susceptibility for a cardiovascular disease, condition or disorder in a mammal which comprises detecting of at least three particular single nucleotide polymorphisms (SNP) in a sample obtained from said mammal in at least one of a genomic locus-derived nucleic acid or fragment thereof of the loci APOB, APOE, ABCA1, CETP, LCAT, LIPC, LPL, LDLR, APOC2, APOA5, APOA4, APOC3, and APOA1. Furthermore, the present invention relates to the improved diagnosis that is based on the analysis of several haplotypes for the above-mentioned loci (i.e. a combination of said haplotypes).

This application relates to methods and kits for detecting predisposition to increased risk for osteoarthritis associated conditions.

The invention discloses a primer, a method and a kit for detecting mutation sites of human BRCA1 and BRCA2 gene all-coding sequences. The primer comprises forward and reverse primers which can amplifyfor covering all the 24 coding zones of BRCA1 gene and of which base sequences are shown as SEQ ID NO:3-52. The primer further comprises forward and reverse primers which can amplify for covering allthe 27 exon coding zones of BRCA2 gene and of which base sequences are shown as SEQ ID NO: 53-134. A detection method based on NGS technique comprises the following steps: combining a specific primerwith a target template DNA sequence; adopting a universal primer for amplifying a to-be-detected sample target area; purifying a library by using a magnetic bead; performing high-throughput sequencing on the acquired library and analyzing mutation of BRCA1 and BRCA2 genes. The primer, method and kit disclosed by the invention can cover all the to-be-detected mutation sites; uniformity is high; experimental procedures can be simplified; detection sensitivity is promoted; a guidance is supplied for selective medication of patients suffering from familial breast cancer and ovarian cancer as wellas for genetic predisposition; morbidity risk is effectively reduced.

This application relates to methods and kits for detecting predisposition to increased risk for osteoarthritis associated conditions.

The present invention relates to methods of processing and / or enriching cells from a pregnant female. More particularly the invention provides methods for processing and / or enriching fetal cells from a pregnant female. The enriched fetal cells can be used in a variety of procedures including, detection of a trait of interest such as a disease trait, or a genetic predisposition thereto, gender typing and parentage testing.

The present invention relates to a method of enriching free fetal nucleic acids from a cervical sample. The enriched fetal nucleic acids can be used in a variety of procedures including, detection of a trait of interest such as a disease trait, or a genetic predisposition thereto, gender typing and parentage testing.

A method of screening for a genetic predisposition to anticholinesterase exposure. The method includes the steps of obtaining a peripheral blood sample, and then analysing serum from the blood sample for BuChE levels and inhibitor-susceptibilities. The DNA of peripheral white blood cells from the blood sample is also screened for the presence of BuChE alleles thereby identifying patients who have a genetic predisposition to anticholinesterase exposure.

The present invention relates to a method of enriching fetal nuclei from a sample. Enriched fetal nuclei can be used in a variety of procedures including, detection of a trait of interest such as a disease trait, or a genetic predisposition thereto, gender typing and parentage testing.

The invention discloses a PCR (Polymerase Chain Reaction) kit for detecting BRCA (Breast Cancer) genic mutation, which is characterized by comprising a plurality of primer pairs used for specifically amplifying a BRCA gene targeting sequence, wherein each primer pair contains a continuous nucleotide sequence formed by at least 15 continuous nucleotides in the 2nd exon of a BRCA1 gene or the 20th exon of the BRCA1 gene or the 11th exon of a BRCA2 gene; the 2nd exon of the BRCA1 gene has a continuous nucleotide sequence of SEQ ID No:1; the 20th exon of the BRCA2 gene has a continuous nucleotide sequence of SEQ ID No:2; and the 11th exon of the BRCA2 gene has a continuous nucleotide sequence of SEQ ID No:3. The kit completes the judgment on the sample genotype by adopting a saturation probe and a high resolution dissolution curve analyzing technology, thereby providing the guidance for medication selection and genetic predisposition of familial breast cancer and ovarian cancer.

The invention discloses a kit that is used for detecting the genetic predisposition of adiposity. The kit comprises particularity primer pairs and particularity fluorescent probe pairs that are used for simultaneously detecting rs5443 SNP locus on the gene of GNB3 and rs1042714 SNP locus on the gene of ADRB2 and a routine component that is used for fluorescent quantitative PCR detection, etc. The kit of the invention evaluates the genetic predisposition of individual adiposity by simultaneously detecting the mononucleotide polymorphism locus genotypes on the genes of GNB3 and ADRB2 that are closely related with the genetic predisposition of adiposity.

The present invention relates to methods of treatment for Parkinson Disease (PD) in a person by identifying gene variants which may indicate a more favorable response to specific medicaments, thereby allowing for personalized or individualized treatment. The present invention relates to a method of screening for a genetic predisposition to PD in a person. The present invention is also directed to a method of testing a person for the presence of particular gene variants, wherein the presence of a gene variant indicates a higher predisposition to PD, and the absence of a gene variant indicates a lower predisposition to PD, compared to a control sample. The present invention further relates to methods and kits for treating, or inhibiting the development of, PD in a person. The present invention is also directed to a method of identifying the heritage of an individual based on the genetic profile of the individual.

The present invention provides compositions and methods for identifying a subject as having a genetic predisposition to obesity or at risk of developing obesity. The present invention also provides compositions and methods for expressing a CREBRF polypeptide of the invention in a cell or precursor thereof and cells expressing a nucleic acid molecule encoding a CREBRF polypeptide of the invention.

The invention discloses a kit that is used for genetic risk detection of individual angiocardiopathy as well as health evaluation and management. The kit comprises an electrophoresis detecting primer pair that is used for detecting rs4646994 SNP polymorphism genotype on the gene of angiotonin converting enzyme (ACE), particularity primer pairs and particularity fluorescent probe pairs that are used for detecting rs5186 SNP locus on the gene of angiotonin II-1 type receptor (AGTR1), rs5443 SNP locus on the gene of G protein 3 subunit (GNB3) and rs1799983 SNP locus on the gene of endothelial nitric oxide synthase (NOS3), a fluorescent quantitative PCR routine component, and a PCR reaction component, etc. The kit of the invention implements cardiovascular health evaluation of detected person by evaluating the generic risk of developing angiocardiopathy and makes a health management plan that satisfies the genetic predisposition of detected person according to the four SNP locus genotypes that related with the genetic risk of developing angiocardiopathy of the detected person.

A method of determining genetic predisposition for deficiency in a specific health function of a person using single nucleotide polymorphism (SNP) analysis is provided. The method includes performing a SNP genotyping assay of three or more genes using a sample obtained from the person, obtaining a SNP panel which includes predetermined identifier SNPs, comparing the SNP panel with a predetermined criterion defining the genetic predisposition for deficiency in a specific health function; and reporting presence of genetic predisposition for deficiency in this health function if the SNP panel meets the predetermined criterion. The health function includes glycation, inflammation, DNA methylation, oxidation or DNA repair.

The invention provides method of diagnosing a receptor tyrosine kinase (RTK)-hyperfunction-induced disorder or a genetic predisposition therefor in a mammal. The method comprises determining the presence of a nucleic acid encoding a mutated fibroblast growth factor receptor-4 (FGFR-4) protein in a nucleic acid sample from a mammal. The presence of a nucleic acid encoding a mutated FGFR-4 protein is indicative of an RTK-hyperfunction-induced disorder or a genetic predisposition therefor.

The invention relates to application of GJB2 gene p.V37I mutation to the preparation of products for diagnosing late-onset deafness. The GJB2 gene p.V37I mutation is p.V37I exclusive mutation. The invention also provides a GJB2 gene p.V37I mutation diagnostic kit for diagnosing the late-onset deafness and application of the kit. The GJB2 gene p.V37I mutation diagnostic kit has the advantages that: a common molecular identifier, namely the GJB2 gene p.V37I exclusive mutation related to the late-onset deafness highly is discovered at home and abroad for the first time; a molecular identifier-based gene screening method and the preferential application range of the molecular identifier in the screening of neonates are determined; and the alarm time of the late-onset deafness caused by the GJB2 gene p.V37I exclusive mutation is advanced to a neonate period, and the GJB2 gene p.V37I mutation diagnostic kit is widely applied to the early detection, intervention and rehabilitation of genetic susceptible late-onset deafness, the screening and diagnosis of deafness genes, late-onset deafness hearing-gene combined screening and other relevant study fields.

The present invention relates to methods of enriching fetal cells from a pregnant female. The present invention relates to removing, from a sample, cells that comprise at least one MHC molecule. The present invention also relates to methods that rely on using telomerase, mRNA encoding components thereof, as well as telomere length, as markers for fetal cells. Enriched fetal cells can be used in a variety of procedures including, detection of a trait of interest such as a disease trait, or a genetic predisposition thereto, gender typing and parentage testing.

Disclosed is a method for determining haplotypes useful for large-scale genetic analysis, within a genomic reference sequence of interest, for a human subpopulation. The method can applied to statistically evaluating the genotypes of subjects for any statistically significant association with a phenotype of interest, such as insulin resistance or coronary artery disease. Thus, also disclosed are a method of detecting a genetic predisposition in a Mexican-American human subject for developing insulin resistance and methods of detecting a lower than normal risk in a Mexican-American human subject for developing insulin resistance or coronary artery disease.

The invention discloses a method for detecting Marek's disease resistance homozygous genotype chicken, which comprises the following steps: adopting the PCR-RFLP technology to perform PCR amplification on the second exon of BLB2 genes of 99 MDV-1 toxin eliminated Xiayan chickens and perform Alu I, Cai I, Cfr I, Hinl I, Hinf I and Rsa I restriction enzyme analysis on the PCR products, and initially obtaining seven BLB2 allelic genes genotype chickens by performing the restriction analysis on the six loci; finally obtaining six BLB2 / BF2 allelic genes genotype chickens by sequencing the BLB2 and BF2 genes of the seven genotype chickens; and by combining the toxin-eliminating result, determining four MD resistance individuals. The established method can detect the MD resistance homozygous genotype chickens, and the MD resistance homozygous genotype chickens are taken as breeders to breed the MD resistance chickens. Therefore, the method has extremely great economic benefits to prevention and control of MD and related immune-suppressing diseases on genetic predisposition.

A genetic polymorphism and a hair shape susceptibility gene that are related to hair shape, and a method for determining the genetic susceptibility to hair shape in individual test subjects are provided. Disclosed is a hair shape susceptibility gene, which overlaps with a haplotype block in the 1q32.1 to 1q32.2 region (D1S249 to D1S2891) of human chromosome 1 and comprises a portion or the entirety of the base sequence of the haplotype block, wherein the haplotype block is determined by a linkage disequilibrium analysis conducted on a single nucleotide polymorphism (SNP) marker whose allele frequency differs statistically significantly between a group having a curly hair trait and a group having a non-curly hair trait, and consists of a base sequence set forth in any one of SEQ ID NO:1 to NO:3.

Methods are disclosed herein for detecting a genetic predisposition to focal segmental glomerulosclerosis (FSGS) or hypertensive end-stage kidney disease (ESKD) or both in a human subject, e.g., by detecting the presence of at least one single nucleotide polymorphism (SNP) in an APOL1 gene, such as the C-terminal exon of an APOL1 gene. In a further embodiment, methods are disclosed for detecting resistance of a subject to a disease associated with Trypanosoma infection, e.g., by detecting at least one single nucleotide polymorphism (SNP) in an APOL1 gene, such as the C-terminal exon of an APOL1 gene. Also disclosed are methods for treating a subject infected with T. brucei. The methods include administering a therapeutically effective amount of an APOL1 protein including a S342G substitution, an I384M substitution, and / or a deletion of N388 and Y389 to the subject.

Disclosed is a method for determining haplotypes useful for large-scale genetic analysis, within a genomic reference sequence of interest, for a human subpopulation. The method can applied to statistically evaluating the genotypes of subjects for any statistically significant association with a phenotype of interest, such as insulin resistance or coronary artery disease. Thus, also disclosed are a method of detecting a genetic predisposition in a human subject for certain biological conditions, which may be related to coronary artery disease.

A method of predicting the presence of a non-functional BRCA1 gene in a biological sample, comprises the step of assaying the sample for expression of at least one specific member of the S100 family of genes. The invention also describes a kit for predicting the presence of non-functional BRCA1, comprising means for assaying a sample for expression of at least one specific member of the S100 gene family. A method of detecting a genetic predisposition to cancer is also described, comprising the step of assaying a biological sample for expression of a specific member of the S100 family of genes. Also described is a method of determining a suitable chemotherapeutic agent for an individual.

A method for determining cerebrovascular disease genetic infectivity, its substance, composition and reagent kit are disclosed. The method includes determining VEGFR-2 gene polymorphic site-604T / G and / or +1192C / T and / or +1719A / T genetic polymorphic style. It can be used for cerebral thrombosis, spatial cerebral infarction and cerebral hemorrhage.