164 results about "Genetic counseling" patented technology

A method and system for analysis of genetic information. Preferably, such analysis enables genetic counseling to be provided to a patient and / or relative, in which such counseling includes conveying at least one aspect of the analysis in lay terms.

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.

This invention provides primers for in vitro diagnosis of mutation of autosomal recessive nonsyndromic hearing loss gene GJB2. The primers can be used for completely amplifying the coding region and upstream or downstream important splicing sequences of GJB2 gene. This invention also provides a test kit for containing the primers and ApaI restriction endonuclease and their application for in vitro detection of 233-235delC mutation of the complete GJB2 coding region. The test kit can also be used for detecting the mutation sites of the GJB2 coding region through sequencing by the forward primer, and detecting deletion or insertion heterozygous mutation through sequencing by the reverse primer. The test kit is suitable for large-scale screening of autosomal recessive nonsyndromic hearing loss gene GJB2 mutation and genetic counseling.

The invention discloses a joint detection kit for detecting alpha,beta-thalassemia associated with mutant genes, which comprises (1) a gene chip and (2) a primer, wherein the gene chip is provided with probes, and the probes are a sequence SEQ ID Nos:1-31 and a sequence which is complementary to the sequence SEQ ID Nos:1-31; and the primer is a sequence SEQ ID Nos:32-42. The thalassemia gene detection kit provides a platform for detecting 16 mutant genes associated with alpha-thalassemia (three deletion types and two mutant types) and beta-thalassemia, can perform synchronous joint detection,improve the specificity of detection, reduce cost and shorten detection time, and has a great significance for the screening of patients suffering from thalassemia, genetic counseling and prenatal diagnosis.

The invention discloses a single-tube amplification kit for simultaneously detecting alpha and beta thalassemia genes, and the kit comprises (1) a gene chip on which a probe is arranged as SEQID No:1-37 and its complementary sequence; (2) one group of primers which is used for multiple PCR (polymerase chain reaction) and regarded as SEDID No. 38-46. Through the kit, alpha and beta thalassemia genes can be simultaneously amplified in the same reaction tube, and three deleted alpha-thalassemia genes (SEA, -alpha 3.7 and -alpha 4.2), three mutant alpha-thalassemia genes (CS, QS and WS) and 19 mutant beta-thalassemia genes can be simultaneously detected. In the same reaction tube, alpha-thalassemia genes and beta-thalassemia genes can be also simultaneously amplified, thereby greatly improving the diagnostic efficiency and accuracy, reducing the cost and shortening he detection time, thus the kit has the great significance of thalassemia crowd screening, genetic counseling and antenatal diagnosis.

Methods are disclosed for genetically counseling a person based on one or more polymorphisms in his or her genes that sensitize him or her to toxic agents. Methods are also disclosed for genetically screening a group of individuals and / or a human population, based on, for example, ethnicity, race, religion or geographic region, to identify individuals with such polymorphisms for counseling. The methods can be used to counsel a person who has not been genetically tested for polymorphisms but who might have increased risk for sensitivity to toxic agents due to his or her membership in a particular group and / or population. The methods use correlations between genotypes of polymorphic alleles in a panel of cell lines and sensitivity of the cell lines to toxic agents. As examples, the methods are used to identify genotypes of allelic forms of the genes TP53, OGG1, ERCC2, XRCC1, and NOS3 that increase sensitivity or resistance of cells to toxic agents.

The invention discloses a kit for detecting a PAH (phenylalanine hydroxylase) gene of phenylketonuria. The kit comprises (1) a gene chip with 13 mutation sites of the PAH gene and a normal control complementary nucleotide sequence probe thereof and (2) various primers for amplifying DNA sequences in clinical samples, wherein the probe is SEQ ID Nos: 1-26 or the sequence complementary to SEQ ID Nos: 1-26; the DNA sequences of the primers are SEQ ID Nos: 27-40. By virtue of the kit for detecting the PAH gene, which is disclosed by the invention, a joint detection platform for detecting 13 common mutation sites of the PAH gene is provided, a synchronous joint detection is achieved, the specificity of the detection is improved, the cost is reduced and the detection time is shortened; the kit is of great significance for screening phenylketonuria-infected patients and carrying out genetic counseling and prenatal diagnosis.

The invention provides application of a reagent for detecting the pathogenic and / or susceptibility genes of pulmonary arterial hypertension in the preparation of products for diagnosing the pulmonaryarterial hypertension. The reagent can capture various pathogenic and / or susceptibility genes of the pulmonary arterial hypertension and can detect 27 related genes at most. The reagent and products containing the same can explain the causes of the pulmonary arterial hypertension, evaluate the risks and risk factors of the pulmonary arterial hypertension and provide reference for individual patient molecular genetic diagnosis, high-risk people screening, high-risk family member screening, corresponding genetic counselling and prenatal diagnosis and intervention so as to reduce the incidence rate of the pulmonary arterial hypertension. A probe set, a chip and a kit in the invention are efficient, many in detection sites, accurate, simple to operate, good in specificity, high in sensitivity,fast, high in practicality and low in cost.

The invention provides an in-vitro diagnostic kit of Leber hereditary optic neuropathy (LHON). The in-vitro diagnostic kit comprises SEQIDNO.1-12. The in-vitro diagnostic kit provides a rapid, accurate and cheap genetic level detection means for the clinic diagnosis of the LHON, can realize the prevention and early-stage timely diagnosis of the LHON, can find high risk group, improves the diagnosis rate of the HLON, can effectively realize antenatal genetic counseling and premarital counseling, improves the population quality, and reduces the family and national medical expenditure.

The invention aims to provide a single-nucleotide polymorphism locus for detecting A-type variant, inducing acute hemolytic transfusion reaction, of an ABO blood-group system. The single-nucleotide polymorphism locus refers to the 689th basic group counted from an initiation codon in an A-type variant gene coding area. The single-nucleotide polymorphism locus has the advantages that new application of an A-type variant gene is provided, an effective way to fast gene diagnosis, gene screening and genetic counselling for induced acute intravascular hemolytic transfusion reaction is provided, and according to application effects, the single-nucleotide polymorphism locus of the gene and a detect primer can be applied to fast A-type variant gene mutation locus detection for peripheral blood of a clinical patient.

The invention relates to a new mutant protein related to dilated cardiomyopathy, a new mutant gene and application thereof, discloses a mutant protein and a mutant TTN gene, has c.20292-20293 heterozygosis deletion variation compared with a human TTN gene, verifies that the mutation is related to dilated cardiomyopathy through research data, and protects the mutant protein and the gene based on arequest. And a kit for detecting dilated cardiomyopathy is disclosed. The mutant TTN gene provided by the invention can distinguish patients with dilated cardiomyopathy from normal people, and can beused as a biomarker for clinical auxiliary diagnosis of dilated cardiomyopathy. Carriers of the variation can be screened in the early stage, and prenatal and postnatal guidance and genetic counselingare provided for subjects. And a possible drug treatment target is provided for human to overcome the dilated cardiomyopathy.

The invention relates to a phenotype-based pathogenic gene quantitative measurement and calculation method, which comprises the following steps: obtaining clinical symptoms and gene detection resultsof a patient, and obtaining correlation scores of pathogenic genes and clinical symptom phenotypes in the gene detection results based on a preset gene and clinical symptom phenotype correlation modelaccording to the clinical symptoms and the gene detection results of the patient. According to the invention, due to the fact that a gene cannot necessarily and completely cause certain clinical symptom phenotype, a quantitative index is required to describe the possibility, and according to clinical symptoms shown when a patient sees a doctor and gene detection results obtained through gene sequencing, correlation scores of all pathogenic genes in the gene detection results and clinical symptom phenotypes are calculated, and the higher the correlation scores of the pathogenic genes and a certain clinical symptom phenotype are, the more easily the clinical symptom phenotype is caused by the pathogenic genes, so that a genetic counselor can conveniently evaluate the pathogenic gene causingthe disease symptoms of the patient.

This invention proposes a detection method of haplotype comprised of polymophic loci (rs3138774) in (TA)n, rs2077647 in T29C, rs2234693 in Pvu II and (TA)n, T29C, Pvu II and Xba I in susceptibility gene ESR1 relates to liver cancer risk. The methods are PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism), fragment analysis and direct sequencing PCR products. The haplotype is constructed by PHASE program. The invention also relates to the kits detecting susceptibility polymophic locis and using methods. In addition, site(TA)n (rs3138774), T29C(rs2077647) , Pvu II(rs2234693) and the haplotype comprising of (TA)n, T29C, Pvu II and Xba I were related to liver cancer risk. ESR1 is determined as a new susceptibility gene of liver cancer, which provides new genetic consultation content for the liver cancer prevention and control.

This invention describes a method and site for providing genetic testing using the Internet which enables individuals to access genetic testing as well as methods that ensure privacy in the selection of genetic tests, payment, performance of tests, delivery of results, interpretation of results, and genetic counseling. These methods will increase the utilization of genetic testing by individuals.

The invention provides a whole genome copy number detection chip customized for an X chromosome high-density probe by aiming at a patient with mental development disorder. The genes relevant to the mental development disorder on the X chromosome can be detected in a high density way. The gene chip has the advantages of high sensitivity, high specificity and high reliability. The chip can be scientifically used for screening the inherited pathogenic factor of a child patient with the mental development disorder, and provides the gene diagnosis for the mental development disorder child with unknown reasons in clinics, particularly the boy child, so that the diagnosis rate of the disease is improved; the reliable information is provided for the prognosis and the genetic counseling of the disease.

The invention relates to a detection primer, a detection kit and a detection method of Leber's hereditary optic neuropathy (LHON) mitochondrial DNA gene mutations. The invention, on the basis of Sanger sequencing principle, has the characteristics of being highly sensitive, stable and accurate; four most common pathogenic mutations of LHON mtDNA can be simultaneously detected, so that the problems of an existing LHON mitochondrial DNA mutation detection method, which is low in sensitivity, not strong enough in specificity, capable of causing pollution easily, high in expense and the like, can be solved; therefore, an accurate gene diagnosis method is provided for LHON; and the invention has important implications for genetic counseling and gene therapy of the disease (the LHON).

The invention relates to the technical field of biology, and particularly provides a screening method of an infective gene capture probe related to dementia, a capture genome, a product and an application. The method provides a screening condition of the capture probe. The screening condition is optimized, and the method specifically comprises restriction on the related condition of selection of atarget section, the length of the capture probe, requirements on specificity, GC content, the number of probes and the like. The infective gene capture probe related to dementia comprises coding regions of 11 genes, infective genes for detecting five kinds of diseases of Alzheimer's disease, frontotemporal dementia, dementia related to Parkinson's diseases, dementia related to amyotrophic lateralsclerosis and lewy body dementia can be realized, and reference can be provided for molecular genetics diagnosis of ill individuals, screening of familial Alzheimer's diseases, frontotemporal dementia, the dementia related to Parkinson's diseases, the dementia related to amyotrophic lateral sclerosis and the lewy body dementia, and corresponding heredity consultation.

The invention discloses an MDM2 gene which is a novel predisposing gene of nasopharyngeal darcinoma by relating the SNP 309 polymorphic loci of the MDM2 gene with the risk of the nasopharyngeal darcinoma and the more serious lymph node metastasis, thereby providing new genetic counseling contents and the molecule criterion for people to prevent and control the nasopharyngeal darcinoma. In addition, the invention also relates to a method for detecting the SNP309 polymorphic loci and the corresponding detecting kit, wherein, the detecting method is the PCR product direct sequencing method that is the polymerase chain reaction-sequencing method.

The invention aims to provide an SNP site for detecting the AB variant type (AwB) capable of triggering an acute or delayed hemolytic transfusion reaction (HTR). The SNP site is the 803 basic group starting from initiation codon in an ABO blood type gene encoding region, and is mutation with G being greater than C. The invention provides new use of AwB type gene detection of the ABO blood type, thus effective genetic diagnosis, prenatal genetic screening and genetic counseling paths for effectively avoiding the acute HTR are provided, the application effects show that the SNP site of the gene and detecting primers can be effectively used for peripheral blood of clinical patients for quickly detecting the gene mutation site of the ABO blood type AwB type.

The invention relates to a detection method, kit and application thereof for the polymorphic site rs17401966 in the susceptibility genome region 1p36.22 related to the risk of HBV-related hepatocellular carcinoma (Hepatocellular carcinoma, HCC). The method is SNPstream typing and TaqMan typing, and the present invention further relates to a kit for detecting the above-mentioned susceptible sites and its application. In addition, the present invention associates the polymorphic site rs17401966 in the 1p36.22 region with the risk of HBV-related HCC, and determines that 1p36.22 is a new susceptibility gene region of HBV-related HCC, which is the key factor for HBV-related HCC. Population prevention and control provide new genetic counseling content.

Methods for cardiovascular disease assessment in an individual comprise detecting the presence or absence of a fragment encoding a polymorphic alpha-2C (α2C DEL322-325) adrenergic receptor in a sample from an individual; and detecting the presence or absence of a fragment encoding a polymorphic beta-1 adrenergic receptor (β1Arg389) in a sample from the individual. Methods for delaying development of cardiovascular disease in an individual, methods for delaying progression or early death associated with cardiovascular disease in an individual, methods of genetic counseling for cardiovascular disease in an individual are also provided.

The invention provides application of a reagent for detecting pathogenicity and / or susceptibility genes of sudden cardiac death in preparing a product for diagnosing the sudden cardiac death. The reagent can capture various pathogenicity and / or susceptibility genes of the sudden cardiac death and can be used for detecting 116 related genes at most. By means of the reagent and the product containing the reagent, the causes of sudden cardiac death patients can be explained, the risk and danger factors of suffering from the sudden cardiac death are evaluated, references are provided for moleculargenetic diagnosis of diseased individuals, general investigation of high-risk populations, screening of onset-of-illness high-risk populations in family members and corresponding genetic counseling and prenatal diagnosis intervention, and the incidence of the sudden cardiac death is expected to be reduced. Meanwhile, a probe set, a chip and a kit have the advantages of high efficiency, many detection sites, high accuracy, convenient operation, high specificity and sensitivity, fastness, high practicability and low cost.

The invention achieves the purposes by providing an SNP site for detecting the acute hemolytic transfusion reactions induced by B variant type in an ABO blood type system, which is the 586th base froman initiation codon in a novel B variant gene coding region. The invention provides novel application of a B variant gene, and provides an effective approach to rapid genetic diagnosis, genetic screening and genetic counseling of a gene which can trigger the acute intravascular hemolytic transfusion reaction; an application effect indicates that the SNP site of the gene and a detection primer, provided by the invention, can be effectively applied to rapid detection of a novel B variant gene mutation site for peripheral blood of a clinical patient.

The invention relates to the individual susceptibility of the disease course progress of a chronic hepatitis b virus (HBV) infected person, and particularly relates to an application of a susceptible gene IL-6 SNP marker related to the disease course process progress of the HBV chronic infected person in early warning and genetic counseling of the outcome of the HBV chronic infected person. The invention provides an IL-6 gene SNP marker related to the outcome of chronic HBV and particularly related to the outcome of HBV-related hepatocirrhosis and a detection reagent and a detection method. For the chronic HBV patients having an rs2066992-site TT gene or a T allele or an rs1524107-site TT gene, scientific interference can be performed, for example, the patient is advised to take the curative prevention measures as early as possible, so that the risk of HBV-related hepatocirrhosis of susceptible people can be reduced on purpose.

This invention pertains to the identification of specific disease-causing DNA sequences in a subject. The methods of the present invention can be used to identify genetic alterations, to determine the molecular basis for genetic diseases, and to provide carrier and prenatal diagnosis for genetic counseling.

The invention provides an analysis system based on genetic disease virulence genes. The system at least comprises the following modules: a site mutation classification module, which is used for classifying mutation results of endosites of pathogenic genes of genetic diseases, wherein the site without mutation is 0, the site of heterozygous mutation or heterozygous mutation is 1, and the site of homozygous mutation or homogeneous mutation is 2; a mutation value obtaining module used for obtaining a mutation value of the pathogenic gene; a result judgment module used for judging the mutation state and / or pathogenicity of the pathogenic gene according to the mutation value of the pathogenic gene; and a report generation module used for obtaining a matched diagnosis conclusion, disease risk assessment and genetic counseling suggestion according to the mutation state and / or pathogenicity of the pathogenic gene, and generating a gene screening analysis report of the subject. According to themethod, risk assessment can be carried out on a mutation carrier with a normal phenotype, acquired injury factors are avoided, he pathogenic risk of the offspring of the mutation carrier is assessed,and wedding guidance and genetic counseling suggestions are provided.

the invention discloses a gene CYP1A2 genotypic and detecting method and relative genotypic agent box and application, which provides molecular criterion for metabolic dose.

The present invention provides a primer set for detecting alpha thalassemia and beta thalassemia, and belongs to the field of molecular biology, wherein the primer set comprises an alpha primer set and a beta primer set. The invention further provides a chip capable of simultaneously detecting alpha thalassemia and beta thalassemia, wherein probes having sequences represented by SEQ ID NO:1-31 areimmobilized on the chip. Based on the primer set and the chip, the present invention further provides a kit capable of simultaneously detecting alpha thalassemia and beta thalassemia. The kit of theinvention has advantages of short detection time, low cost, convenient operation, closed tube operation and pollution reducing, and has great significance in the screening of thalassemia population, the genetic counseling and the prenatal diagnosis.

The invention relates to the field of disease-related mutant genes and discloses a novel gene mutation site causing congenital membranous cataract, a detection method and application. The invention specifically relates to gene mutation c.388C > T (p.R130C) of LIM2 and a genetic mode of dominant inheritance of autosomes of the gene discovered for the first time, and discloses a congenital membranous cataract virulence gene LIM2 mutation detection kit at the same time. The kit disclosed by the invention is used for detecting whether a patient has LIM2 gene c.388C > T mutation or not; therefore,an effective way for congenital cataract gene diagnosis, prenatal gene screening and genetic counseling is provided. The kit is beneficial to clinical prenatal diagnosis screening and common screeningof newborn LIM2 gene mutation, early surgery and training rehabilitation intervention are carried out on diagnosis congenital membranous cataract children, and irreversible lifelong hypopsia is reduced; and a basis is provided for screening after preventive fertility.

The invention discloses a phenylketonuria detection primer group, a kit and a gene mutation detection method. The primer group covering six phenylketonuria related genes PAH, PTS, GCH1, QDPR, PCBD1 and SPR and upstream and downstream 10bp splice sites thereof are provided for the first time. The primer group in a multiplex PCR (polymerase chain reaction) reaction system is high in specificity, lowin primer mutual interference, high in uniformity and high in amplicon expression depth. The phenylketonuria detection primer group, the kit and the gene mutation detection method have advantages ofquickness, comprehensiveness, accuracy and simplicity in operation and are applicable to detection of samples of blood, blood spots, leukocytes and the like. Compared with the prior art, the phenylketonuria detection primer group, the kit and the gene mutation detection method have advantages of wide coverage, more detection sites and high accuracy, can be applied to disease prevention in terms ofphenylketonuria gene mutation detection, carrier detection, genetic counseling and the like and can also be applied to disease treatment guidance.