Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Reexamination Certificate
1994-09-26
2001-03-20
Chambers, Jasemine C. (Department: 1819)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
C536S024300, C536S027100
Reexamination Certificate
active
06203977
ABSTRACT:
BACKGROUND
Chromosome banding techniques have facilitated the identification of specific human chromosomes and presently provide the major basis upon which chromosomal aberrations are diagnosed. The interpretation of chromosome banding patterns requires skilled personnel and is often technically difficult, especially with respect to detecting minor structural changes and when analyzing complex karyotypes, such as those of highly aneuploid tumor cells. An additional complexity is that readable metaphase chromosome spreads are sometimes very difficult or impossible to prepare from certain cell types or tissues. Alternative methods for identifying chromosomal aberrations would be valuable because they could augment current methods of cytogenic analysis, particularly if such alternative methods were applicable to both mitotic and interphase cell populations.
Over the past few years, a considerable body of evidence has been obtained which indicates that the DNA of individual chromosomes occupy focal territories, or spatially cohesive domains, within mammalian interphase nuclei. Cremer, T. et al.,
Hum. Genet
., 60:46-56 (1982); Hens, L. et al.,
Exp. Cell Res
., 149:257-269 (1983); Schardin, M. et al.,
Hum. Genet
., 71:281-287 (1985); Manuelidis, L.,
Hum Genet
., 71:288-293 (1985); and Pinkel, D. et al.,
Proc. Natl. Acad. Sci. USA
, 83:2934-2938 (1986). These observations suggest that chromosome-specific probe sets could be used to detect numerical or structural aberrations of chromosomal domains in non-mitotic cells, an approach termed “interphase cytogenics”. Cremer, T. et al.,
Hum. Genet
., 74:346-352 (1986). Indeed, recent in situ hybridization studies have demonstrated the prenatal diagnosis of trisomy-18 with interphase cells and the detection of numerical chromosomal abnormalities in tumor cells lines using chromosome-specific repetitive DNAs as probes. Cremer, T. et al.,
Hum. Genet
., 74:346-352 (1986) and Cremer, T. et al.,
Exp. Cell Res
., 176:119-220 (1988). All chromosome-specific repetitive DNAs reported to date are localized to discrete subregions of each chromosome and, thus, such DNA probes are unsuitable for analyses of many types of chromosomal aberrations (e.g., translocations and deletions). If it were possible to detect uniquely the spectrum of sequences comprising a specific chromosome, analysis of aberrations of chromosomal domains in non-mitotic cells would be possible. Furthermore, such a general labeling technique would make it possible to address fundamental questions concerning the spatial organization of chromosomal DNA within interphase nuclei.
DISCLOSURE OF THE INVENTION
The subject invention relates to a method of detecting, identifying and/or quantitating selected individual chromsomes in mammalian mitotic or interphase cells, by means of chromosomal in situ suppression (CISS) hybridization and its use in analyzing cells for the occurrence of chromosomes, chromosome fragments, or chromosome aberrations, such as those associated with a condition or disease. In the method of the present invention, chromosome-specific probes (DNA or RNA) are combined with a sample to be analyzed, in such a manner that an individual chromosome(s) of interest is labeled and the complex spectrum of sequences which comprise the chromosome can be detected. The probes used in the present method are of high genetic complexity and can be appropriately-selected cloned DNA or RNA fragments, used individually or in pools, or chromosome library DNA.
The method of the present invention, referred to as CISS hybridization, is particularly useful because it can be used to specifically stain individual mammalian chromosomes at any point in the cell cycle. It can be used to assess chromosomal content, particularly chromosome aberrations (e.g., deletions, rearrangements, change in chromosome number) which, until the present invention, it has been time-consuming and/or difficult, if not impossible, to detect. The method is useful in providing a rapid and highly specific assessment of individual mammalian chromosomes in any context (e.g., diagnosis and/or monitoring of a genetic condition or a disease state) in which such an assessment is desired.
REFERENCES:
patent: 4358535 (1982-11-01), Falkow et al.
patent: 4647529 (1987-03-01), Rodland et al.
patent: 4681840 (1987-07-01), Stephenson et al.
patent: 4683195 (1987-07-01), Mullis et al.
patent: 4707440 (1987-11-01), Stavrianopoulos
patent: 4710465 (1987-12-01), Weissman et al.
patent: 4711955 (1987-12-01), Ward et al.
patent: 4721669 (1988-01-01), Barton
patent: 4725536 (1988-02-01), Fritsch et al.
patent: 4737454 (1988-04-01), DaMagupta et al.
patent: 4755458 (1988-07-01), Rabbani et al.
patent: 4770992 (1988-09-01), Van den Engh et al.
patent: 4772691 (1988-09-01), Herman
patent: 4888278 (1989-12-01), Singer et al.
patent: 5447841 (1995-09-01), Gray et al.
patent: 0357437 (1990-03-01), None
patent: 0357436 (1990-03-01), None
patent: 2215724 (1979-09-01), None
patent: 2 019 408 (1979-10-01), None
patent: 1203108 (1985-01-01), None
patent: WO87/05027 (1987-08-01), None
patent: WO88/01300 (1988-02-01), None
Lawrence Livermore National Laboratory, “Chromosome-Specific Human Gene Libraries,”Energy and Technology Review, 82-83 (1985).
Lawrence Livermore National Laboratory, “Fluorescent Labeling of Human Chromosomes with Recombinant DNA Probes,”Energy and Technology Review(UCRL 5200-85-7), 84-85 (1985).
LeGrys, V., et al., “Clinical Applications of DNA Probes in the Diagnosis of Genetic Diseases,”CRC Critical Reviews in Clinical Laboratory Sciences, 25(4):255-274 (1987).
Lewin, B. (editor), Eukaryotic Genomes: A Continum of Sequences (Chapter 18),Genes(2nd Edition John Wiley & Sons, Inc.), 293-298 and 464-465 (1984).
Lewin, R., “Genetic Probes Become Ever Sharper”Science, 221(4616):1167 (1983).
Lichter, P., et al., “High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones,”Science, 247:64-69 (1990).
Lichter, P., et al., “Is Non-isotopic in Situ Hybridization Finally Coming of Age?,”Nature, 345:93-94 (1990).
Lichter, P., et al., “Rapid Detection of Human Chromosome 21 Aberrations by in Situ Hybridization,”PNAS USA, 85:9664-9668 (1988).
Litt, M. and White, R.L., “A Highly Polymorphic Locus in Human DNA Revealed by Cosmid-Derived Probes,”PNAS USA, 82:6206-6210 (1985).
Manuelidis, L. and Ward, D., “Chromosomal and Nuclear Distribution of the Hindlll 1.9-kb Human DNA Repeat Segment,”Chromosoma(Berl.), 91:28-38 (1984).
Manuelidis, L., “Individual Interphase Chromosome Domains Revealed by in Situ Hybridization”Hum. Genet., 71:288-293 (1985).
Manuelidis, L., “Different Central Nervous System Cell Types Display Distinct and Nonrandom Arrangements of Satellite DNA Sequences”PNAS USA, 81:3123-3127 (1984).
McCormick, F., “The Polymerase Chain Reaction and Cancer Diagnosis,”Cancer Cells, 1(2), 56-61 (1989).
Montgomery, K., et al., “Specific DNA Sequence Amplification in Human Neuroblastoma Cells,”PNAS USA, 80:5724-5728 (1983).
Nederlof, P., et al., “Detection of Chromosome Aberrations in Interphase Tumor Nuclei by Nonradioactive In Situ Hybridization,”Cancer Genet Cytogenet, 42:87-98 (1989).
Olsen, A., et al., “Isolation of Unique Sequence Human X Chromosomal Deoxyribonucleic Acid,”Biochemistry, 19:2419-2428 (1980).
Pinkel, D., et al., “Cytogenetic Analysis by in Situ Hybridization With Fluorescently Labeled Nucleic Acid Probes,”Cold Spring Harbor Symposia on Quantitative Biology, L1:151-157 (1986).
Pinkel, D., et al., “Cytogenetic Analysis During Leukemia Therapy Using Fluorescence in Situ Hybridization with Chromosome-Specific Nucleic Acid Probes,”Am. J. Hum. Genet.(Supplement), 41(3), A34 (096; 12.12) (1987).
Pinkel, D. et al., “Cytogenetics Using Fluorescent Nucleic Acid Probes and Quantitative Microscopic Measurement,” (UCRL 93269 Abstract),Analytical Cytology X Conference, Hilton Head Resort, SC, (Nov. 17-22, 1985).
Fuscoe, J., et al., “An Efficient Method for Selecting Unique-Sequence Clones from DNA Libraries and Its Application to Fluorescent Staining of Human Chromosome 21 Using in Situ Hybridizati
Baldini Antonio
Cremer Thomas
Lichter Peter
Manuelidis Laura
Ried Thomas
Chambers Jasemine C.
DeConti, Jr. Esq. Giulio A.
Lahive & Cockfield LLP
Priebe Scott D.
Yale University
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