415 results about "Genetic diagnosis" patented technology

The present invention provides methods and compositions for specifically identifying a fetal cell. An initial screening of approximately 400 candidate genes by digital PCR in different fetal and adult tissues identified a subset of 24 gene markers specific for fetal nucleated RBC and trophoblasts. The specific expression of those genes was further evaluated and verified in more defined tissues and isolated cells through quantitative RT-PCR using custom Taqman probes specific for each gene. A subset of fetal cell specific markers (FCM) was tested and validated by RNA fluorescent in situ hybridization (FISH) in blood samples from non-pregnant women, and pre-termination and post-termination pregnant women. Applications of these gene markers include, but are not limited to, distinguishing a fetal cell from a maternal cell for fetal cell identification and genetic diagnosis, identifying circulating fetal cell types in maternal blood, purifying or enriching one or more fetal cells, and enumerating one or more fetal cells during fetal cell enrichment.

The present invention relates to a non-invasive method of retrieving and identifying cells particularly fetal cells and trophoblastic cells. The invention includes methods for use of the cells for identifying chromosomal abnormalities and mutations particularly for prenatal diagnosis by performing genetic diagnosis for chromosomal and single gene disorders. The invention also includes methods of confirming cells of fetal origin.

A method for determining viable normal blastomeres for implantation entailing labeling the blastomere with an antibody to hyperglycoslyated hCG and determining the binding of chromosomal probes directed to chromosomal regions of the chromosome.

A non-invasive, risk-free method of prenatal diagnosis is provided. According to the method of the present invention transcervical specimens are subjected to trophoblast-specific immuno-staining followed by FISH, PRINS, Q-FISH and / or MCB analyses and / or other DNA-based genetic analysis in order to determine fetal gender and / or identify chromosomal and / or DNA abnormalities in a fetus. Also provided is a method of in situ chromosomal, DNA and / or RNA analysis of a prestained specimen by incubating the prestained specimen in ammonium hydroxide. Also provided is a method of identifying embryonic cells according to a nucleus / cytoplasm ratio of at least 1:1 and the presence of at least variably condensed chromatin.

Methods for propagating haploid genomes of male or female origina and genetic screening and modification thereof are provided. These haploid genomes may be used to produce haploid embryos, and embryonic stem-like cells and differentiated cells. Also, these haploid genomes and cells containing, may be used as nuclear transfer donors to produce diploid nuclear transfer units. These diploid NT units e.g., human NT units, may be used to obtain pluripotent cells and differentiated cells and tissues.

The present invention pertains to a process for automatically analyzing nucleic acid samples. Specifically, the process comprises the steps of forming electrophoretic data of DNA samples with DNA ladders; comparing these data; transforming the coordinates of the DNA sample's data into DNA length coordinates; and analyzing the DNA sample in length coordinates. This analysis is useful for automating fragment analysis and quality assessment. The automation enables a business model based on usage, since it replaces (rather than assists) labor. This analysis also provides a mechanism whereby data generated on different instruments can be confidently compared. Genetic applications of this invention include gene discovery, genetic diagnosis, and drug discovery. Forensic applications include identifying people and their relatives, catching perpetrators, analyzing DNA mixtures, and exonerating innocent suspects.

The invention relates to a cancer predicting method and a drug design method. Specifically, the invention relates to a method for predicting cancer which is useful for the genetic diagnosis for evaluating the malignancy of cancer. The invention also relates to a method for designing a drug based on the result of the above prediction method.

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.

The present invention is in the field of nucleic acid-based genetic analysis. More particularly, it discloses novel insights into the overall structure of genetic variation in all living species. The structure can be revealed with the use of any data set of genetic variants from a particular locus. The invention is useful to define the subset of variations that are most suited as genetic markers to search for correlations with certain phenotypic traits. Additionally, the insights are useful for the development of algorithms and computer programs that convert genotype data into the constituent haplotypes that are laborious and costly to derive in an experimental way. The invention is useful in areas such as (i) genome-wide association studies, (ii) clinical in vitro diagnosis, (iii) plant and animal breeding, (iv) the identification of micro-organisms.

A reagent kit for the gene diagnosis of Leber's hereditary optical nerve (LHON) lesion which is caused by the mutations on 3 primary pathogenic sites (G11778A, G3460A and T14484C) is disclosed. Its detecting process includes such steps as designing and synthesizing the site specific PCR primer, using whole blood as DNA template, PCR amplification, and detecting said mutant sites of LHON patient.

The invention provides a nervous system genetic disease gene united screening method, a kit and a preparation method thereof. The gene screening method includes: firstly constructing a whole-genome DNA library construction of a subject, then capturing a target gene sequence with the prepared nervous system genetic disease gene screening kit, then detecting the sample through a double-end 150bp sequencing mode of a high-throughput sequencing platform (Illumina HiSeq 3000), performing bioinformatic analysis of the data result, and finding out mutation information sites of genes related to nervous system genetic diseases so as to reach the genetic diagnosis purpose. The method provided by the invention can rapidly and accurately cover the exon regions of all nervous system genetic disease genes known at present.

The invention provides a variant human SLC20A2 gene and discloses that the variant human SLC20A2 gene is idiopathic basal ganglia calcification disease-causing gene. By utilizing the variant human SLC20A2 gene, diagnosis and risk evaluation can be carried out on idiopathic basal ganglia calcification disease. The invention also provides a protein coded by the variant human SLC20A2 gene, and the protein can be taken as a drug target for treating basal ganglia calcification. Besides, the invention also provides a kit used for diagnosing the idiopathic basal ganglia calcification disease and an application of the variant human SLC20A2 gene in preparation of a human idiopathic basal ganglia calcification disease gene diagnosis chip.

The invention belongs to the field of pharmacogenomics and genetic diagnosis, and relates to a method used for detecting HLA-B*5801 alleles. The method comprises following steps: a DNA sample to be detected is taken, three pairs of specific primers and a pair of internal primers are taken, amplification of DNA segments is realized by using sequence specific primer method, and then the results of the amplification are analyzed by agarose gel electrophoresis; or sample DNA is extracted, a pair of specific primers, a pair of internal primers and three fluorescence probes are taken, amplification of DNA segments is realized by Taqman probe method using a fluorescence ration PCR instrument, and then the amplification curve is analyzed so as to obtain results. Results analysis methods such as agarose gel electrophoresis, high resolution melting curve and SYBRGreen fluorogenic quantitative PCR are employed in the method. The method has advantages of speediness, convenience, flexibility, high resolution and no contamination; is suitable for detection of HLA-B*5801 alleles in samples such as peripheral blood and hair; and can be used for determining the probability of severe skin adverse reaction of patients with gout or hyperuricemia caused by taking of allopurinol.

The invention discloses a genetic diagnosis kit which detects the early-aging syndromes of adults and belongs to the biotechnical field. A method which diagnoses the early-aging syndromes of the adults includes the following steps of: (1) gathering the blood, body fluid or tissue samples of individuals to be tested and extracting the DNA; (2) taking the DNA as a template and carrying out PRC reaction to PRC primers which are designed in accordance with the mutation sites of WRN genes to obtain products of the PRC reaction; (3) carrying out sequencing analysis to the obtained PRC products and comparing the obtained sample sequences with normal genetic sequences to determine whether mutation exists; and (4) judging whether the individuals to be tested have the early-aging syndromes caused by the mutation of the WRN genes according to the results. The invention has the advantages of providing the mutation of the WRN genes among the Chinese population for the first time and showing the correlation between the mutated genes and WS symptoms. The detection method is simple and low in cost, with direct and reliable results, and can be applied to the large-scale screening and diagnosis of the 2806insA mutation of WRN genes of Werner syndrome.

The invention provides a screening method of all inherited metabolic disorder genes for genetic diagnosis within an exon area, which is fast and accurate and can cover the newest inherited metabolic disorder genes. The method provided by the invention comprises the following steps of: drawing 3-5ml of blood from an individual, extracting 3-5 microgrammes of DNA (Deoxyribonucleic Acid) from the blood, interrupting and amplifying the DNA to construct a whole genome library for the patient, capturing the virulence genes by using an inherited metabolic disorder gene scanning kit provided by the invention, carrying out high-throughput sequencing by using a sequencing machine, and analyzing and finding mutation information relevant to the genes so as to obtain the mutation conditions of the inherited metabolic disorder genes of the individual to reach the purpose of accurate genetic diagnosis. Dozens of to thousands of genes and millions of loci can be captured and detected once by taking advantage of the high-throughput sequencing, and the screening method covers known 700 inherited metabolic disorders.

The present invention relates to compositions and methods for determining whether an individual is predisposed to major depressive disorder and / or to bipolar disorder. In particular, the present invention provides genetic markers useful alone or in combination with other genetic markers for the diagnosis, characterization and treatment of major (unipolar) depression and / or bipolar disorder.

The specification is directed to a method of diagnosing whether a subject is predisposed to an adverse reaction to one or more pharmaceutical agents which may induce a prolonged QT interval or acquired LQTS in that individual. The diagnosis is genetic analysis of at least two polymorphisms or mutations which the individual may have, which are associated with an increased risk for prolonged QT intervals or Torsades de Pointes (TdP). Genetic screening for determining the predisposition of prolonged QT intervals induced by a pharmaceutical agent is performed by identifying genetic polymorphisms or mutations located in at least two classes of genes, wherein the genes are (1) LQT genes, (2) altered sensitivity genes (e.g., MiRP1) or (3) increased exposure genes (e.g., MDR genes or P450 cytochrome genes). The specification is also directed to compositions and kits for determining such predispositions to adverse drug reactions.

The invention relates to a detection method of nucleic acid, particularly discloses a whole base sequence typing of mitochondria and a determination method thereof, specifically 26 pairs of PCR primer for mitochondria sequencing and a typing method based on the primers. The 26 pairs of PCR primer which are adopted by the invention cover the total length of mitochondria genome, wherein, primer 15-1, 15-2, 15-3, 24-1 and 24-2 are designed renewedly based on Chinese population and has the pertinence of the typing of Chinese population. The amplified fragment which corresponds to the primer 24-1 is the minimum and equals to 420bp. The amplified fragment which corresponds to the primer 22 is the maximum and equals to 1162bp. The dimensions of all PCR fragments are moderate and favorable for PCR amplification. The 26 pairs of PCR primer of the invention is utilized in the laboratory of applicant for investigating the community information of Chinese nation, and the whole sequence information of Chinese population is submitted to GENEBANK databases. The result shows that the invention can be definitely applied in the field of individual recognitions, paternity testing and gene diagnosis of the field of forensic medicine, anthropology, genetics and disease.

The invention provides improved methods for sequencing nucleic acids, e.g., for medical applications and biomedical research. The disclosed methods can be applied to rapid personalized medicine, genetic diagnosis, pathogen identification, and sequencing species genomes.

There is provided a marker selection program for selecting a marker for use in genetic diagnosis. In the program, analysis is carried out by using at least two specimen databases which respectively store data of specimens belonging different populations. By carrying out analysis without integrating all specimen data into single population, information on a minority population can be surely reflected to a gene search. Since the characteristics of each population can be reflected, high-accuracy diagnosing functions can be obtained, providing a practical diagnosing system.

The peptides and precursors thereof, inclusive salts thereof, of the present invention are useful as a pharmaceutical composition, for example as therapeutic or prophylactic agents for hormone-producing tumors, acromegaly, gigantism, dementia, gastric ulcer and the like, hormone secretion inhibitors, tumor growth inhibitors, neural activity or sleep modulators, etc. The DNAs coding for the peptides or precursors of the invention are useful as a pharmaceutical composition, for example as agents for the gene therapy or prevention of hormone-producing tumors, acromegaly, gigantism, dementia, gastric ulcer and the like, hormone secretion inhibitors, tumor growth inhibitors, neural activity or sleep modulators, etc. Furthermore, the DNAs coding for the peptides or precursors of the invention are useful as agents for the gene diagnosis of various diseases, for example, hormone-producing tumors, acromegaly, gigantism, dementia, gastric ulcer, etc. The antibodies against the peptides, precursors or salts of the invention can be used for assaying the peptides, precursors or salts of the invention in test solutions. The peptides, precursors or salts of the invention are useful as reagents for screening for compounds, or salts thereof, capable of modifying the binding of the peptides, precursors or salts of the invention to certain receptors.

Methods are provided for the analysis of gene expression utilizing RNA from hair follicles. Methods are also provided for evaluation of the biological activity of a candidate substance, genetic diagnosis, and evaluation of disease, each involving analysis of gene expression utilizing RNA from hair follicles.

The invention relates to a gene chip, and discloses an integrated detection gene chip of an mtDNA mutation site related to Leber genetic optic neuropathy, as well as the preparation and the application thereof. A specific oligonucleotide detecting probe of the mtDNA mutational site related to the Leber genetic optic neuropathy and a specific oligonucleotide detecting probe of a mononucleotide polymorphyism site mtDNA 11719G>A are fixed on the carrier surface lattice of the gene chip. The gene chip has the advantages of time saving, low cost, simple operation and the like, has 32 mutation sites related to the Leber genetic optic neuropathy in a specific detecting clinical sample only through one-time PCR amplification and one-time crossing reaction, and is suitable for the gene diagnosis of the Leber genetic optic neuropathy.

The invention discloses a synthetic method and application of water-soluble fluorescent dendrimers. Fluorescent dendrimers different in generation and carrying different functional groups are prepared from the kind of water-soluble fluorescent dendrimers by the aid of a 'divergent method' or 'convergence method'. The fluorescent dendrimers peripherally carrying ammonium salt cations have excellent water solubility and biocompatibility, are capable of entering living cells, can be combined with electronegative DNA (deoxyribonucleic acid), and can serve as genetic vectors to bring exogenous nucleic acid members DNA or RNA (ribonucleic acid) into the cells. Cellular uptake experiments show that along with increase of the generation, capabilities of penetrating cell membranes and carrying genes of the dendrimers are enhanced. The synthetic method and the application have the advantages of convenience in synthesis, high efficiency, product purification and simplicity and the like, and the synthetic dendrimers are safe, low in toxicity, excellent in water solubility and good in light stability, can serve as multifunctional cell fluorescent labeled molecules and gene vectors, and are applied to scientific researches and genetic diagnosis in the field of biological medicine.

The invention relates to a detection kit for diagnosis of a patient with lung cancer based on multiple genes. The detection kit comprises a primer probe composition A, a primer probe composition B, aprimer probe composition C, a primer probe composition D and a primer probe composition E, wherein the primer probe composition A comprises a specific primer pair A, a blocking primer A and a probe A;the primer probe composition B comprises a specific primer pair B, a blocking primer B and a probe B; the primer probe composition C comprises a specific primer pair C, a blocking primer C and a probe C; the primer probe composition D comprises a specific primer pair D, a blocking primer D and a probe D; and the primer probe composition E comprises a specific primer pair E, a blocking primer E and a probe E. The kit provided by the invention can be applied to diagnosis of the lung cancer, and provides a novel, rapid, reliable and accurate way for the diagnosis of the lung cancer; and the kitis expected to play an important role in the field of medical detection.

The invention discloses a synthesis method of a spiropyrane small-molecule fluorescent probe with extreme acid / extreme alkaline switch response and an application of the spiropyrane small-molecule fluorescent probe. By virtue of the synthesis method, naphthalene nucleus spiropyrane with two carboxyl groups and a phenolic hydroxyl group is synthesized by carrying out modification on three loca of spiropyrane, wherein the naphthalene nucleus spiropyrane has the characteristic of reversible switch type response on pH values of extreme acid / extreme alkaline; when the pH value is smaller than 1.0, red fluorescence is represented; when the pH value is 1.0-12.0, fluorescence is represented; when the pH value is greater than 12.0, blue-green fluorescence is represented. The synthesized spiropyrane small-molecule fluorescent probe also has the characteristics of being high in optical, thermal and chemical stability and structural designability, and excellent in biocompatibility and cell labeling property; meanwhile, the synthesized spiropyrane small-molecule fluorescent probe is safe and low in low toxicity, and is capable of smoothly entering bacteria for bio-labeling, implementing the pH response of extreme acid / extreme alkaline as same as that of solutions in organisms; furthermore, the synthesized spiropyrane small-molecule fluorescent probe can be used as a multifunctional cell fluorescence labeling dye and can be applied to scientific research and gene diagnosis in the field of biological medicines.

The invention provides a blood cell separation system, which is used for the precise separation and concentration of rare fetal nucleated cells mixed in the blood of pregnant women, so as to facilitate the obtaining of test preparations that can be used for prenatal chromosome / gene diagnosis. The blood cell separation system is characterized in that it includes (1) a primary separation device, which is used to mainly remove non-nucleated red blood cells, white blood cells and platelets from a blood sample taken from a pregnant woman to obtain a primary separation sample, (2) a secondary separation device , for the removal of residual non-nucleated erythrocytes and leukocytes from a primary fraction obtained using the primary fractionation device using the carbohydrate-lectin method to obtain a secondary fraction containing concentrated fetal nucleated cells, and (3) A preparation device for preparing the secondary separation sample obtained by the secondary separation device.

The invention provides a screening method of an infantile autism gene. The screening method is quick and accurate and can cover all exon areas of the latest infantile autism gene. According to the basic scheme, the screening method comprises the following steps of: drawing 3 to 5ml of blood from an individual; extracting 3-5ug of DNA (Deoxyribose Nucleic Acid) from the flood; breaking and amplifying the DNA to construct a whole-genome library for a patient; trapping relevant virulence genes through an infantile autism gene scanning kit; performing high-throughput sequencing through a new generation sequenator; and analyzing and finding out the gene-related mutant information to obtain the mutation conditions of the gene related to the infantile autism of the individual so as to realize the purpose of accurate genetic diagnosis.

A blood cell separating system is offered for precisely separating and concentrating rare fetal nucleated cells intermixed in the blood of a pregnant woman, to conveniently obtain test preparations capable of being used for prenatal chromosomal / genetic diagnosis. A blood cell separating system is characterized by comprising (1) a primary separating device for removing mainly non-nucleated erythrocytes, leukocytes and platelets from blood samples taken from a pregnant woman to obtain a primary separated sample, (2) a secondary separating device for using a carbohydrate-lectin method to remove residual non-nucleated erythrocytes and leukocytes from the primary separated sample obtained by the primary separating device to obtain a secondary separated sample with concentrated fetal nucleated cells, and (3) preparing device for preparing the secondary separated sample obtained by the secondary separating device.

The invention discloses a quantitative polymerase chain reaction (PCR) microfluidic chip integrated device for an integrated electrochemical detection technology. The PCR microfluidic chip integrated device comprises a fixed foundation, thermostats, a PCR microfluidic chip, and an electrochemical detector, and is characterized in that: three independent thermostats, namely a low-temperature annealing thermostat, an appropriate-temperature extending thermostat, and a high-temperature denaturation thermostat are sequentially manufactured on the fixed foundation in parallel; PCR reaction in the PCR microfluidic chip can be finished in a low-temperature annealing area, an appropriate-temperature extending area and a high-temperature denaturation area; and the electrochemical detector for quantitative detection of PCR reactant is arranged in a deoxyribonucleic acid (DNA) amplification reaction tube. The quantitative PCR microfluidic chip device is suitable for various gene diagnosis and detection and laboratories. The device platform integrates temperature control, PCR reaction and detection, and is high in miniaturization degree.