Skip to main content
PMC home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1988 Dec;85(23):9138–9142. doi: 10.1073/pnas.85.23.9138

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

D Pinkel 1, J Landegent 1, C Collins 1, J Fuscoe 1, R Segraves 1, J Lucas 1, J Gray 1
PMCID: PMC282679  PMID: 2973607

Abstract

Chromosomes can be specifically stained in metaphase spreads and interphase nuclei by in situ hybridization with entire chromosome-specific DNA libraries. Unlabeled human genomic DNA is used to inhibit the hybridization of sequences in the library that bind to multiple chromosomes. The target chromosome can be made at least 20 times brighter per unit length than the others. Trisomy 21 and translocations involving chromosome 4 can be detected in metaphase spreads and interphase nuclei by using this technique.

Full text

PDF
9138

Images in this article

9140Image
on p.9140
9140Image
on p.9140
9140Image
on p.9140
9140Image
on p.9140
9140Image
on p.9140
9140Image
on p.9140
9140Image
on p.9140
9140Image
on p.9140

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Choo K. H., Vissel B., Brown R., Filby R. G., Earle E. Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations. Nucleic Acids Res. 1988 Feb 25;16(4):1273–1284. doi: 10.1093/nar/16.4.1273. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cremer T., Landegent J., Brückner A., Scholl H. P., Schardin M., Hager H. D., Devilee P., Pearson P., van der Ploeg M. Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84. Hum Genet. 1986 Dec;74(4):346–352. doi: 10.1007/BF00280484. [DOI] [PubMed] [Google Scholar]
  3. Erickson J. M., Rushford C. L., Dorney D. J., Wilson G. N., Schmickel R. D. Structure and variation of human ribosomal DNA: molecular analysis of cloned fragments. Gene. 1981 Dec;16(1-3):1–9. doi: 10.1016/0378-1119(81)90055-x. [DOI] [PubMed] [Google Scholar]
  4. Gilliam T. C., Healey S. T., MacDonald M. E., Stewart G. D., Wasmuth J. J., Tanzi R. E., Roy J. C., Gusella J. F. Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res. 1987 Feb 25;15(4):1445–1458. doi: 10.1093/nar/15.4.1445. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Harper M. E., Ullrich A., Saunders G. F. Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci U S A. 1981 Jul;78(7):4458–4460. doi: 10.1073/pnas.78.7.4458. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Helms C., Graham M. Y., Dutchik J. E., Olson M. V. A new method for purifying lambda DNA from phage lysates. DNA. 1985 Feb;4(1):39–49. doi: 10.1089/dna.1985.4.39. [DOI] [PubMed] [Google Scholar]
  7. Hopman A. H., Wiegant J., van Duijn P. Mercurated nucleic acid probes, a new principle for non-radioactive in situ hybridization. Exp Cell Res. 1987 Apr;169(2):357–368. doi: 10.1016/0014-4827(87)90196-0. [DOI] [PubMed] [Google Scholar]
  8. Johnson G. D., Nogueira Araujo G. M. A simple method of reducing the fading of immunofluorescence during microscopy. J Immunol Methods. 1981;43(3):349–350. doi: 10.1016/0022-1759(81)90183-6. [DOI] [PubMed] [Google Scholar]
  9. Landegent J. E., Jansen in de Wal N., Dirks R. W., Baao F., van der Ploeg M. Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization. Hum Genet. 1987 Dec;77(4):366–370. doi: 10.1007/BF00291428. [DOI] [PubMed] [Google Scholar]
  10. Landegent J. E., Jasen in de Wal N., Baan R. A., Hoeijmakers J. H., Van der Ploeg M. 2-Acetylaminofluorene-modified probes for the indirect hybridocytochemical detection of specific nucleic acid sequences. Exp Cell Res. 1984 Jul;153(1):61–72. doi: 10.1016/0014-4827(84)90448-8. [DOI] [PubMed] [Google Scholar]
  11. Langer-Safer P. R., Levine M., Ward D. C. Immunological method for mapping genes on Drosophila polytene chromosomes. Proc Natl Acad Sci U S A. 1982 Jul;79(14):4381–4385. doi: 10.1073/pnas.79.14.4381. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Manuelidis L. Different central nervous system cell types display distinct and nonrandom arrangements of satellite DNA sequences. Proc Natl Acad Sci U S A. 1984 May;81(10):3123–3127. doi: 10.1073/pnas.81.10.3123. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Manuelidis L. Individual interphase chromosome domains revealed by in situ hybridization. Hum Genet. 1985;71(4):288–293. doi: 10.1007/BF00388453. [DOI] [PubMed] [Google Scholar]
  14. Mendelsohn M. L., Mayall B. H., Bogart E., Moore D. H., 2nd, Perry B. H. DNA content and DNA-based centromeric index of the 24 human chromosomes. Science. 1973 Mar 16;179(4078):1126–1129. doi: 10.1126/science.179.4078.1126. [DOI] [PubMed] [Google Scholar]
  15. Nakamura Y., Leppert M., O'Connell P., Wolff R., Holm T., Culver M., Martin C., Fujimoto E., Hoff M., Kumlin E. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987 Mar 27;235(4796):1616–1622. doi: 10.1126/science.3029872. [DOI] [PubMed] [Google Scholar]
  16. Pinkel D., Gray J. W., Trask B., van den Engh G., Fuscoe J., van Dekken H. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):151–157. doi: 10.1101/sqb.1986.051.01.018. [DOI] [PubMed] [Google Scholar]
  17. Pinkel D., Straume T., Gray J. W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. doi: 10.1073/pnas.83.9.2934. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Rappold G. A., Cremer T., Hager H. D., Davies K. E., Müller C. R., Yang T. Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes. Hum Genet. 1984;67(3):317–325. doi: 10.1007/BF00291361. [DOI] [PubMed] [Google Scholar]
  19. Schardin M., Cremer T., Hager H. D., Lang M. Specific staining of human chromosomes in Chinese hamster x man hybrid cell lines demonstrates interphase chromosome territories. Hum Genet. 1985;71(4):281–287. doi: 10.1007/BF00388452. [DOI] [PubMed] [Google Scholar]
  20. Stong R. C., Korsmeyer S. J., Parkin J. L., Arthur D. C., Kersey J. H. Human acute leukemia cell line with the t(4;11) chromosomal rearrangement exhibits B lineage and monocytic characteristics. Blood. 1985 Jan;65(1):21–31. [PubMed] [Google Scholar]
  21. Trask B., van den Engh G., Pinkel D., Mullikin J., Waldman F., van Dekken H., Gray J. Fluorescence in situ hybridization to interphase cell nuclei in suspension allows flow cytometric analysis of chromosome content and microscopic analysis of nuclear organization. Hum Genet. 1988 Mar;78(3):251–259. doi: 10.1007/BF00291672. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES