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AssigneeThe Regents of the University of California
InventorsDaniel Pinkel, Joe W. Gray, Anne Kallioniemi, Olli-Pekka Kallioniemi, Frederic Waldman, Masaru Sakamoto
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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 of detecting an amplification of unique sequences of at least one position selected from the group consisting of about q21 on human chromosome 8, about q31-qter on human chromosome 13, about p15-pter on human chromosome 7, about q24-qter on human chromosome 8, about q13-qter on human chromosome 9 and about q21-23 on human chromosome 6, in a genome being tested, said method comprising the steps of:
A method of detecting a deletion of unique sequences of at least one position selected from the group consisting of the p arm of human chromosome 3, the q arm of human chromosome 16, about position q11.2-q21 of human chromosome 17, about position p12-p13 of human chromosome 17, about position p35-p36.1 of human chromosome 1, about position p21 of human chromosome X, about position q14-q21.1 of human chromosome 13, about position p21-p22 of human chromosome 8, and about position q13-q23 of human chromosome 16, in a genome being tested, said method comprising the steps of:
A method for detecting ovarian cancer in a patient comprising detecting a deletion of unique sequences of at least one position selected from the group consisting of about position q26 of human chromosome 3, about position q24 of human chromosome 8, about position q11.2-q21 of human chromosome 17, about position p12-p13 of human chromosome 17, about position p35-p36.1 of human chromosome 1, about position p21 of human chromosome X, about position q14-q21.1 of human chromosome 13, about position p21-p22 of human chromosome 8, and about position q13-q23 of human chromosome 16, in a genome being tested, said method comprising the steps of:
A method for detecting ovarian cancer in a patient comprising detecting an amplification of unique sequences of at least one position selected from the group consisting of the p arm of human chromosome 3 and the q arm of human chromosome 16, in a genome being tested, said method comprising the steps of:
Dependencies are inferred from the claim text.