66 results about "Chromosome abnormality" patented technology

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).

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.