32 results about "Chromosome Disorder" patented technology

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.

Methods, compositions and kits for determining the developmental potential of one or more embryos or pluripotent cells and / or the presence of chromosomal abnormalities in one or more embryos or pluripotent cells are provided. These methods, compositions and kits find use in identifying embryos and oocytes in vitro that are most useful in treating infertility in humans.

The present invention provides methods of detecting chromosomal or genetic abnormalities associated with various diseases or with predisposition to various diseases. In particular, the present invention provides advanced methods of performing DNA hybridization, capture, and detection on solid support. Invention methods are useful for the detection, diagnosis, predicting response to therapy, detecting minimal residual disease, prognosis, or monitoring of disease treatment or progression of particular disease conditions such as cell proliferative disorders

The present invention provides methods for preparing cells with highly condensed chromosomes, such as sperm, and methods for detecting and quantifying specific cellular target molecules in intact cells. Specifically, methods are provided for detecting chromosomes and chromosomal abnormalities, including aneuploidy, in intact cells using fluorescence in situ hybridization of cells in suspension, such as sperm cells.

The disclosure relates to methods, medical profiles, kits and apparatus for use in determining the risk that a pregnant individual has for developing pre-eclampsia based on amounts of certain biochemical markers in a biological sample from the individual and biophysical markers. The disclosure also relates to methods, medical profiles, kits and apparatus for use in determining the risk that a pregnant individual is carrying a fetus having a chromosomal abnormality based on amounts of certain biochemical markers in a biological sample from the individual and biophysical markers.

Fast and highly accurate mass spectrometry-based processes for detecting a particular nucleic acid sequence in a biological sample are provided. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

Described herein are methods and kits for detecting the presence or absence of gene dysregulations such as those arising from gene fusions and / or chromosomal abnormalities, e.g. translocations, insertions, inversions and deletions. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5′ portion of a target gene relative to the 3′ region of the target gene. The average expression of the 5′ portion of the target gene is compared with the average expression of the 3′ portion of the target gene to determine an intragenic differential expression (IDE). The IDE can then be used to determine if a dysregulation or a particular disease (or susceptibility to a disease) is present or absent in a subject or sample.

The present invention concerns the use of chromosomal replacement techniques in the context of producing cloned and transgenic animals, in order to correct chromosome abnormalities or alter autosomal genotypes, and provide for novel breeding pairs by replacing the sex chromosome in animals to be cloned. Replacement of a sex chromosome, or an X or Y chromosome, will result in animals that are autosomally isogenic and sexually non-isogenic (AISN), with "autosomally isogenic" meaning that the paired sets of autosomes (non-sex chromosomes) in each animal are isogenic or identical. Also included in the invention are animals that are both "autosomally" and "allelically" isogenic whereby each particular pair of chromosomes is internally isogenic or identical within a single animal as well as between animals. Such animals are particularly useful in generating a line of cloned mammals using sexual reproduction, without having to undergo nuclear transfer in order to propagate cloned animals.

The invention relates to the technical field of biological detection, and relates to a reagent box for detecting chromosome aneuploidy and a preparing method and an application thereof. The reagent box comprises a first reagent, a third reagent with purification magnetic beads or a second reagent, and a third reagent with the purification magnetic beads; the first reagent comprises a breaking repairing buffer solution, a breaking repairing enzyme, a dATP, a dNTP, a DNA polymerase I and a rtaq enzyme; the second reagent comprises the breaking repairing buffer solution, the breaking repairing enzyme, the dATP, the dNTP, a klenow enzyme and the rtaq enzyme; the third reagent comprises T4 DNA ligase, a PNK buffer solution and a junction. According to the reagent box, through an efficient and precise building database method, chromosome abnormity is detected, the comparison rate is increased, the GC deviation is reduced, the dup rate is lowered, meanwhile 10bp fluctuation before sequencing can be reduced, and the situation of AT separation can be avoided.

The invention relates to an immortalized quality-control cell bank for chromosome karyotype analysis in the medicine field and a construction method thereof. The invention is mainly characterized in that the construction method comprises: taking residual attached primary or sub-culture living cells which are used for chromosomal disease diagnosis as needed by clinical diagnosis and treatment and are definitely diagnosed to have difficult chromosome abnormalities, introducing, through transgenosis technology, SV40LTag-pcDNA3.1(-) recombinant plasmid constructed by pcDNA3.1(-) connected by T4DNA ligase and digested by BamHI, and SV40LTag DNA amplified by PCR and separated by agarose gel electrophoresis, allowing recon to integrate with the cell DNA, screening immortalized cells integrated with recons by G418, performing subculture amplification and living cell cryopreservation, then extracting several respectively-prepared cells with different diseases, mixing the cells according to a required ratio for quality control so as to convert each original cell with a single chromosome abnormality into a cell with a plurality of easy-to-misdiagnose chromosome abnormalities with different ratios. Therefore, the difficulty and complexity for differential diagnosis and chromosome chimera diagnosis are increased; samples are easily available; and waste residual cells are converted into effective quality-control materials.

A method for detecting chromosomal aberration including adding an anti-CD3 antibody to a human pluripotent stem cell-derived T lymphocyte and culturing the T lymphocyte, and detecting chromosomal aberration in the cultured T lymphocyte is described. Also described is a method for evaluating inducibility by a test substance of chromosomal aberration including adding an anti-CD3 antibody to a human pluripotent stem cell-derived T lymphocyte and culturing the T lymphocyte, adding a test substance to the cultured T lymphocyte, measuring frequency of chromosomal aberration in the T lymphocyte after addition of the test substance, and evaluating inducibility of chromosomal aberration by comparing the frequency of chromosomal aberration with the frequency standard value in the control group.

The invention provides a classifier model training method and device for detecting chromosome structure abnormality. The training method comprises the steps that real normal chromosomes are obtained, a first difference matrix between real normal homologous chromosome pairs is obtained, and two homologous chromosomes in the real normal homologous chromosome pairs are both real normal chromosomes; artificial defect chromosomes are constructed based on the real normal chromosomes, a second difference matrix between the artificial defect homologous chromosome pairs is obtained, and at least one of two homologous chromosomes in the artificial defect homologous chromosome pairs is an artificial defect chromosome; training at least by taking the first difference matrix and the second difference matrix as samples to obtain a classifier model for detecting the chromosome structure abnormality; and judging whether the to-be-diagnosed user has chromosome abnormality based on the classifier model. According to the method, abundant structure abnormal chromosomes of different types are artificially constructed, so that sufficient and balanced samples are provided for classifier model training.

The methods and compositions described herein address the need for a diagnostic method that can be provided to patients with early stage lung cancer, especially non-small cell lung cancer (NSCLC), to determine whether the patient is at increased risk of poor disease outcome. The methods and compositions thus allow for more informed treatment decisions for the early stage lung cancer patient.

The invention discloses a detection method for embryo chromosomes of an embryo culture solution at the blastomere stage. The embryo culture solution is collected by fertilizing eggs in an ICSI mannerwithout any damage to embryos, the problem of possible sample biopsy trauma in the PGS (preimplantation genetic screening) process is effectively solved, operation is simple, convenient and easy to carry out; and the detection method is suitable for people with high incidence of embryo chromosome abnormality, such as high age, repeated abortion, repeated implantation failure, severe oligozoospermia, chromosome abnormality and the like. According to the detection method, chromosome detection can be carried out at the early stage of embryo culture and prior to the blastula stage, and detection time is brought forward by two days.

Provided herein is a pharmaceutical combination comprising (a) a poly-(ADP-ribose)-polymerase (PARP) inhibitor and (b) a second agent comprising (i) an inhibitor of glycogen synthase kinase 3 (GSK-3) or (ii) an inhibitor of disrupter of telomeric silencing 1-like (DOT1L). Also provided is a method of treating a subject suffering from acute myeloid leukaemia, comprising administering to the subject a therapeutically effective amount of the pharmaceutical combination. There is also described herein a method for selecting a therapy for a subject suffering from acute myeloid leukaemia, comprising determining whether a chromosomal abnormality at 11q23 is present in a sample obtained from the subject; wherein if the chromosomal abnormality at 11q23 is present in the sample, a therapy comprising combined administration of (a) a poly-(ADP-ribose)-polymerase (PARP) inhibitor and (b) a second agent comprising (i) an inhibitor of glycogen synthase kinase 3 (GSK-3) or (ii) an inhibitor of disrupter of telomeric silencing 1-like (DOT1L)is selected for the subject.

The present invention provides methods for preparing cells with highly condensed chromosomes, such as sperm, and methods for detecting and quantifying specific cellular target molecules in intact cells. Specifically, methods are provided for detecting chromosomes and chromosomal abnormalities, including aneuploidy, in intact cells using fluorescence in situ hybridization of cells in suspension, such as sperm cells.

The invention relates to a method for constructing a chromosome abnormality prediction model based on fetus ultrasonic image feature omics and diagnostic equipment. The model construction method comprises the steps: acquiring three ROI target area images in an ultrasonic image of a fetus with normal chromosomes and three ROI target area images in an ultrasonic image of a fetus with abnormal chromosomes respectively, wherein the three ROI target area images comprise a fetus posterior neck area, a face area and a midbrain area; extracting features of the ROI target area images; fusing the extracted features of the ROI target area image to obtain a classification result that the chromosome of the fetus in the ultrasonic image is normal or abnormal; comparing the obtained classification result with a manual classification result of a doctor, and optimizing the classifier according to a comparison result; and obtaining a chromosome abnormality prediction model. The method starts from clinical practical problems during model construction, and has important clinical application and popularization value.

Provided herein is a pharmaceutical combination comprising (a) a poly-(ADP-ribose)-polymerase (PARP) inhibitor and (b) a second agent comprising (i) an inhibitor of glycogen synthase kinase 3 (GSK-3) or (ii) an inhibitor of disrupter of telomeric silencing 1-like (DOT1L). Also provided is a method of treating a subject suffering from acute myeloid leukaemia, comprising administering to the subject a therapeutically effective amount of the pharmaceutical combination. There is also described herein a method for selecting a therapy for a subject suffering from acute myeloid leukaemia, comprising determining whether a chromosomal abnormality at 11q23 is present in a sample obtained from the subject; wherein if the chromosomal abnormality at 11q23 is present in the sample, a therapy comprising combined administration of (a) a poly-(ADP-ribose)-polymerase (PARP) inhibitor and (b) a second agent comprising (i) an inhibitor of glycogen synthase kinase 3 (GSK-3) or (ii) an inhibitor of disrupter of telomeric silencing 1-like (DOT1L) is selected for the subject.

The invention relates to the technical field of nucleic acid detection, in particular to a multiplex amplification detection system for linked STR loci on human chromosomes I and II and application of the multiplex amplification detection system. According to the invention, closely linked STR gene loci with high polymorphism are respectively screened from chromosomes 1 and 2, and two groups of composite amplification systems are established. The closely linked STR composite amplification detection system developed by the invention is not only suitable for genetic identification, but also can be used for distinguishing a single parent diploid with multi-site mutation or excluding a genetic relationship, is used for antenatal diagnosis of chromosome abnormality, and has a wide market application prospect.

The present invention relates to novel compounds having histone deacetylase 6 (HDAC6) in-hibitory activity, stereoisomers thereof or pharmaceutically acceptable salts thereof the use thereof for the preparation of therapeutic medicaments, pharmaceutical compositions containing the same, a method for treating diseases using the composition, and methods for preparing the novel compounds. The novel compounds stereoisomers thereof or pharmaceutically acceptable salts thereof according to the present invention have histone deacetylase (HDAC) inhibitory activity and are effective for the prevention or treatment of HDAC6-mediated diseases, including infectious diseases; neoplasms; endocrine, nutritional and metabolic diseases; mental and be-havioral disorders; neurological diseases; diseases of the eye and adnexa; cardiovascular diseases; respiratory diseases; digestive diseases; diseases of the skin and subcutaneous tissue; diseases of the musculoskeletal system and connective tissue; or congenital malformations, deformations and chromosomal abnormalities.

The present invention relates to a composition for hybridization comprising: (a) at least one hybridization probe ("component (a)"); (b) at least one polar probe having a circular molecular structure protic or polar aprotic solvent ("component (b)"); and (c) at least one carboxylic acid amide and / or its salt ("component (c)"), with respect to the composition greater than 10vol% amount. Furthermore, the present invention relates to the use of such a composition, as well as a method for detecting nucleic acid and / or chromosomal abnormalities in a biological sample via hybridization using said composition.

The invention discloses a data processing method and device, a storage medium and a processor. The method includes: acquiring gene sequence on sample chromosome; comparing the gene sequence with humangenome reference sequence, and determining unique base sequence reads, matched with the human genome reference sequence, in the sample chromosome; statistically counting the number of base sequence reads in each observation area bin, wherein the observation areas bin are obtained by performing window separation on the sample chromosome according to preset window separation conditions; determininga hidden Markov model according to the number of the base sequence reads in the multiple observation areas bin; determining gene copy number variation CNV according to the hidden Markov model, wherein the copy number variation CNV comprises at least one observation area bin. By the method, the technical problem that interference factors in chromosome abnormality diagnosis cannot be determined inthe prior art is solved.

The present invention provides non-invasive determination of X and / or Y chromosome abnormalities indicative of aneuploidy or gender mosaicism in a maternal sample by detecting and determining the relative contribution of genetic sequences from the X chromosome and / or Y chromosome in a maternal sample Methods.