66 results about "Chromosome abnormality" patented technology

Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.

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 a method for detecting embryo chromosome abnormality by utilizing blastula culture solution. By detecting free DNAs of an embryo source through embryo early stage in vitro solution, namely the blastula culture solution, trace DNAs undergo uniform whole genome amplification, a method of next generation sequencing and the like are utilized to analyze amplified DNA products, so that the chromosome condition of embryos, namely whether integral or local aneuploid of the chromosome arises, is judged. The blastula culture solution, which is waste at the embryo in vitro culture stage in the in vitro fertilization operation process, serves as a detection sample. According to the non-invasive method, cell damage to the embryos during conventional blastomere biopsy or blastula trophoblast cell biopsy sampling is avoided, no additional trouble is caused clinically, the operation during sample obtaining is simplified, and the safe reliability and simplicity are higher.

Disclosed are new methods comprising the use of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and / or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and / or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and / or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).

The invention discloses a method for performing genome amplification by using embryo blastula-stage cells, performing chromosome detection on the preimplantational embryo by combining a high-flux sequencing technique and screening out the chromosome normal embryo. The method can comprehensively and completely analyze the genetic variation information of the embryo genome, thereby instructing the preimplantational embryo selection, reducing the hereditary diseases and enhancing the success rate of test tube babies. The method comprises the following steps: blastula-stage trophocyte separation; genome amplification; DNA (deoxyribonucleic acid) segmentation; and Proton library establishment, mounting sequencing and sequencing data analysis. By using the blastula-stage embryo to perform trophocyte separation detection, the method avoids the injuries of cleavage-stage cell separation to the embryo, obtains higher cell quantity than the cleavage stage, and enhances the success rate and amplification effect of genome amplification. After the blastula-stage embryos are subjected to the natural elimination process, the high-quality blastula-stage embryo is selected for detection, thereby saving the cost.

A method for determining radiation exposure from chromosome abnormalities present in a specimen by determining the location or locations of the centromere of each chromosome in a cell in an image of a metaphase cell by segmentation of an accurately drawn chromosome centerline followed by selection of a longitudinal cross-section with the minimum width or intensity or width and intensity; counting the number of centromeres in each chromosome in each cell; computing the frequency of dicentric chromosomes in a population of cells; and determining the radiation dose by comparing the computed frequency of dicentric chromosomes with a previously determined dose-response curve from a calibrated source.

The present invention provides a medical diagnosis support device, which is capable of acquiring information to support medical diagnosis for easily and precisely determining chromosome abnormality and / or gene amplification related to cancer or genetic disorder.The medical diagnosis support device for acquiring information to support medical diagnosis from an image of a specimen stained by multiple staining, the image is obtained by photographing the stained specimen with transmitted light, the device comprises: staining characteristics quantity acquisition means for acquiring characteristics quantity of each staining, based on a pixel value of the image of the stained specimen; marker intensifying means for intensifying a marker, based on the characteristics quantity of each staining thus acquired; marker extracting means for extracting the marker of each staining, based on the characteristics quantity in which the marker has been thus intensified; marker state judging means for judging a state of the marker, based on the marker of each staining thus extracted; and marker state identifying and displaying means for identifying and displaying the marker state, based on the judgment result.

The invention provides application of an MDPCR (multiple digital PCR (polymerase chain reaction)) technology to chromosome aneuploidy screening. Concretely, the invention discloses a method for performing NIPS (non-invas ive prenatal screening) including Down's syndrome, Edward's syndrome, Patau syndrome and other chromosome abnormality diseases on pregnant women by the MDPCR technology. The method has the advantages that early, safe, non-invas, accurate and fast effects are achieved, the method is suitable for large-scale detection and clinic application, and the like; intrauterine infection, abortion and death in the pregnancy middle and later periods of the pregnant women can be avoided; the goals of bearing and rearing better children are achieved.

The invention belongs to the field of microbial animal cell lines, and relates to a new human acute B lymphocytic leukemia cell strain CHH-1. The in vitro isolate of the mononuclear cell of the marrow of a patient with firstly-diagnosed acute B lymphocytic leukemia undergoes cell primary culture to obtain the highly aggressive human acute B lymphocytic leukemia cell strain with add(11)(q23) chromosome abnormality, the preservation number of the cell strain is CGMCC No.11797, and the highly aggressive human acute B lymphocytic leukemia cell strain with add(11)(q23) chromosome abnormality is named as human acute B lymphocytic leukemia cell strain CHH-1, has a same clone source with patient's leukemia cells, can be infinitely and stably passed in vitro, and has the characteristics of clonality add(11)(q23) genetic abnormality, high tumorigenicity and high aggressiveness. The new human acute B lymphocytic leukemia cell strain CHH-1 provides a new good cell model for researches of human acute lymphocytic leukemia with No.11 chromosome long arm structure abnormality and development of biomedicines, and has wide prospect and great practical values in revelation of the pathogenesis of the human acute lymphocytic leukemia and development of medicines.

The invention provides a fetus chromosome detecting method based on DNA variation counting. The method comprises the steps of obtaining and sequencing free DNA of plasma in a peripheral blood sample of a pregnant woman, comparing the free DNA of the plasma with human reference sequences, namely DNA long sequences on 24 chromosomes, counting the number of variation in the free DNA of the plasma andconducting comparison. The invention further discloses a system for achieving the detecting method. The system comprises a DNA short sequence data input module, a module for positioning short sequences on the long sequences, a module for founding sequence difference, a difference screening module, a first counting module and a second counting module, wherein the modules are sequentially and electrically connected. According to the fetus chromosome detecting method based on DNA variation counting and the system for achieving the method, by detecting chromosomes in peripheral blood of the pregnant woman, whether there is chromosome abnormality or not in a fetus is judged, thus harmful effects on the pregnant woman and the fetus in a detecting process are greatly reduced, and by calculatingthe variation number to judge the chromosome abnormality of the fetus, compared with a method that a sequence number is calculated simply, the fetus chromosome detecting method based on DNA variationcounting is more accurate.

The invention discloses a chromosome preparation method, as well as a required culture medium and a preparation method thereof, and is used for solving karyotype analysis problem of chromosome. The culture medium consists of RPMI (Roswell Park Memorial Institute) 1640, heparin sodium, HEPES (2-[4-(2-Hydroxyethyl)-1-piperazinyl]ethanesulfonic acid), L-glutamine, NaHCO3, benzylpenicillin potassium, streptomycin sulphate, bovine serum and phytohemagglutinin (PHA). The detection method comprises the following steps: implanting 0.3 to 0.4ml of human peripheral blood into the culture medium; adding colchicinamide in 2-4 hours before culture is terminated to realize that the cell is terminated in anaphase; culturing the cell after 68 to 72 hours to harvest the cell; performing hypotonicity for 40 minutes, three times of fixation, banding, dyeing and other treatments; and performing chromosome analysis under a microscope to determine whether the peripheral blood supplier has a phenomenon of chromosome abnormality. The culture medium disclosed by the invention has convenience for use, simpleness in operation, low cost and low patient detection fee, and is suitable for genetic diagnosis, infertility and prenatal diagnosis in each level of hospitals.

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.

A method for determining radiation exposure from chromosome abnormalities present in a specimen by determining the location or locations of the centromere of each chromosome in a cell in an image of a metaphase cell by segmentation of an accurately drawn chromosome centerline followed by selection of a longitudinal cross-section with the minimum width or intensity or width and intensity; counting the number of centromeres in each chromosome in each cell; computing the frequency of dicentric chromosomes in a population of cells; and determining the radiation dose by comparing the computed frequency of dicentric chromosomes with a previously determined dose-response curve from a calibrated source.