Multicolor in situ hybridization methods for genetic testing
AssigneeThe Regents of the University of California
InventorRoger V. Lebo
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Abstract
This invention relates to novel methods of optimally analyzing commonly obtained prenatal cell samples by in situ hybridization. In addition, this method diagnoses gene deletion and gene multiplication using multicolor in situ hybridization. A method is also provided to use multicolor in situ hybridization to identify chromosomal haplotypes co-segregating with disease-related genetic alterations and with normal genes. This haplotype in situ protocol simplifies haplotype segregation analysis in pedigrees.
Claims21
A method to identify an abnormal number of a gene in a chromosome complement from cells of a patient, comprising:
- obtaining a sample of cells from the patient comprising said chromosome complement;
- hybridizing a first probe labeled with a first fluorescent color to said chromosome complement, wherein said first labeled probe hybridizes specifically to a chromosome region adjacent to said gene;
- hybridizing a second labeled probe to said chromosome complement, wherein said second labeled probe hybridizes specifically to said gene and the label of said second labeled probe has a fluorescent color distinguishable from said first fluorescent color;
- detecting signals from said first and second probes;
- detecting an abnormal gene number of said gene by identifying said chromosome complement having a quantity of signal from said first probe that is not equal to the quantity of signal from said second probe, wherein said signals from first and second probes are spaced in a predetermined geometric pattern.
Dependencies are inferred from the claim text.