Skip to main content

Molekularzytogenetische Tumordiagnostik

  • Chapter
Gen-Medizin
  • 276 Accesses

Zusammenfassung

Die Humanzytogenetik befaßt sich mit der Erforschung des menschlichen Chromosomensatzes. Sie hat sich als eigenständige Forschungsrichtung innerhalb der Humangenetik erst relativ spät etabliert. Dafür waren vor allem methodische Schwierigkeiten verantwortlich, die erst in den fünfziger Jahren unseres Jahrhunderts überwunden wurden. Im Jahr 1956 gelang es erstmals den menschlichen Chromosomensatz so gut darzustellen, daß die Zahl der Chromosomen eindeutig bestimmt werden konnte. Dabei zeigte sich, daß der Mensch nur 46 Chromosomen hat. Bis dahin war vermutet worden, daß er gemeinsam mit den Menschenaffen 48 Chromosomen besitzt [1].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Tjio JH, Levan A (1956) The chromosome number of man. Hereditas 42: 1–6

    Article  Google Scholar 

  2. Moorhead PS, Nowell PC, Mellman WJ, et al (1960) Chromosome preparations of leucocytes cultured from human peripheral blood. Exp Cell Res 20: 613–616

    Article  PubMed  CAS  Google Scholar 

  3. Caspersson T, Zech L, Johansson C (1970) Differential banding of alkylating fluorochromes in human chromosomes. Exp Cell Res 60: 315–319

    Article  PubMed  CAS  Google Scholar 

  4. Cremer T, Lichter P, Borden J, Ward DC, Manuelidis L (1988) Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes. Hum Genet 80: 235–246

    Article  PubMed  CAS  Google Scholar 

  5. Speicher MR, Ballard SG, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genet 12: 368–375

    Article  PubMed  CAS  Google Scholar 

  6. Bentz M, Plesch A, Stilgenbauer S, Dohner H, Lichter P (1998) Minimal size of deletions detected by comparative genomic hybridization. Genes Chromosomes and Cancer 21(2): 172–175

    Article  PubMed  CAS  Google Scholar 

  7. Mitelman F (1995) ISCN 1995. An International System for Human Cytogenetic Nomenclature (1995). Karger, Basel

    Google Scholar 

  8. Buselmaier W, Tariverdian G (1999) Humangenetik. Springer Verlag, Berlin.

    Google Scholar 

  9. Varmus H, Weinberg RA (1994) Gene und Krebs. Spektrum Verlag, Heidelberg

    Google Scholar 

  10. Thompson PW, Whittaker JA, Brennan H (1993) Trisomy 4 with double minute chromosomes in acute nonlymphocytic leukemia. Cancer Genet Cytogenet 69: 41–44

    Article  PubMed  CAS  Google Scholar 

  11. Heim S, Mitelman F (1995) Cancer Cytogenetics (2nd ed.). Wiley-Liss, New York

    Google Scholar 

  12. Therman E, Susman M (1993) Human Chromosomes: Structure, Behavior, and Effects. (3rd ed.). Springer Verlag, New York

    Book  Google Scholar 

  13. Riccardi VM, Sujansky E, Smith AC, Francke U (1978) Chromosomal imbalance in the aniridia-Wilms tumor association: lip interstitial deletion. Pediatr 61: 604–610

    CAS  Google Scholar 

  14. Stanbridge EJ (1992) Functional evidence for human tumour suppressor genes: Chromosome and molecular genetic studies. Cancer Surv 12: 5–24

    PubMed  CAS  Google Scholar 

  15. Brown KW, Wilmore HP, 1 Watson JE, Mott MG, Berry PJ, Maitland NJ (1993) Low frequency of mutations in the WT1 coding region in Wilms’ tumor. Genes Chrom Cancer 8: 74–79

    Article  PubMed  CAS  Google Scholar 

  16. Lohmann D, Horsthemke B (1998) Genetik des Retinoblastoms. medgen 10: 278–282

    Google Scholar 

  17. Strachan T, Read AP (1996) Mulekulare Humangenetik. Spektrum Akademischer Verlag, Heidelberg

    Google Scholar 

  18. Lehmann AR, Carr AM (1995) The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer. Trends Genet 11: 375–377

    Article  PubMed  CAS  Google Scholar 

  19. Sperling K, Digweed M, Stumm M, Wegner RD, Reis A (1998) Chromosomeninstabilität, Strahlenempfindlichkeit und Krebs: Ataxia-telangiektasia und das Nijmegen Breakage Syndrom. medgen 10: 274–277

    Google Scholar 

  20. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027–1038

    Article  PubMed  CAS  Google Scholar 

  21. Holinski-Feder E (1998) HNPCC-Syndrom. medgen 10: 271–273

    Google Scholar 

  22. von Hansemann D (1890) Ueber asymmetrische Zellteilung in Epithelkrebsen und deren biologische Bedeutung. Virchows Arch A Pathol Anat 119: 299–326

    Article  Google Scholar 

  23. Boveri T (1914) Zur Frage der Entstehung maligner Tumoren. Jena: Gustav Fischer

    Google Scholar 

  24. Nowell PC, Hungerford DA (1960) A minute chromosome in human chronic granulocytic leukemia. Science 132: 1497

    Google Scholar 

  25. Zang KD, Singer H (1967) Chromosomal constitution of meningiomas. Nature (Lond.) 216: 84–85

    Article  CAS  Google Scholar 

  26. Rowley JD (1973) A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243: 290–293

    Article  PubMed  CAS  Google Scholar 

  27. Zankl H, Zang KD (1972) Cytological and cytogenetical studies on brain tumors: IV. Identification of the missing G chromosome in human meningiomas as no. 22 by fluorescence technique. Humangenetik 14: 167–169

    Article  PubMed  CAS  Google Scholar 

  28. Rieder H, Ludwig WD, Gassmann W, Maurer J, Janssen JWG, Gökbuget N, Schwartz S, Thiel E, Löffler H, Bartram CR, Hoelzer D, Fonatsch C (1996) Prognostic significance of additional chromosome abnormalities in adult patients with Philadelphia chromosome positive acute lymphoblastic leukaemia. Brit J Haematol 96: 678–691

    Article  Google Scholar 

  29. Zankl H (1979) Der Karyotyp des Meningeoms. Gustav Fischer Verlag, Stuttgart, New York

    Google Scholar 

  30. Scherthan H, Zankl H, Kioschis P (1989) Application of Reflection Contrast-and Fluorescence Microscopy to non-radioactive In-Situ Hybridization. Scientific and Technical Information 9: 171–174

    Google Scholar 

  31. Lichter P, Cremer T (1992) Chromosomal analysis by non-isotopic in situ hybridization in: Rooney, DE, Czepulkowski, Bitt, (cdy). Human Cytogenetics Vol I, IRL Press, Oxford

    Google Scholar 

  32. Ried T, Schröck E, Ning Y, Wienberg J (1998) Chromosome painting: a useful art. Human Molecular Genetics 7: 1619–1626

    Article  PubMed  CAS  Google Scholar 

  33. Chudoba I, Plesch A, Lörch T, Lemke L, Claussen U, Senger G (1999) High resolution multicolor-banding: a new technique for refolded FISH analysis of human chromosomes. Cytogenet Cell Genet 84: 156–160

    Article  PubMed  CAS  Google Scholar 

  34. Adinolfi M, Crolla J (1994) Nonisotopic in Situ Hybridization. Advances in Human Genetics 22: 187–235

    PubMed  CAS  Google Scholar 

  35. Ruppersberger P, Arnold M, Zankl H, Scherthan H (1991) Characterization of Marker Chromosomes in Namalva Cells by Chromosomal In Situ Suppression (CISS) Hybridization and R-Banding. Genes Chromosomes&Cancer 3: 394–399

    CAS  Google Scholar 

  36. Bruckert P, Kappler R, Scherthan H, Link H, Hagmann F-G, Zankl H (2000) Double Minute Chromosomes and c-MYC Amplification in Acute Myelogenous Leukemia: Are they Prognostic Factors? Cancer Genet Cytogenet 120: 73–79

    Article  PubMed  CAS  Google Scholar 

  37. Dohner H, Stilgenbauer S, Dohner K, Bentz M, Lichter P (1999) Chromosome aberrations in B-cell chronic lymphocytic leukemia: reassessment based on molecular cytogenetic analysis. J.Mol Med 77(2): 266–281

    Article  PubMed  CAS  Google Scholar 

  38. Mitelman F, Mertens F, Johansson B (1997) A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nature Genet 15 Spec No: 417-474

    Google Scholar 

  39. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818–821

    Article  PubMed  CAS  Google Scholar 

  40. Simon R, Brinkschmidt C, Gronwald J, Atkins D, Böcker W, Störkel S (1996) Comparative Genomische Hybridisierung in der Pathologic Mitteilungen für Wissenschaft und Technik 11: 71–76

    Google Scholar 

  41. Kallioniemi OP, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW, Pinkel D (1994) Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chrom. Cancer 10: 231–243

    CAS  Google Scholar 

  42. Weber RG, Sabel M, Reifenberger J, Sommer C, Oberstraß J, Reifenberger G, Kiessling M, Cremer T (1996) Characterization of genomic alterations associated with glioma progression by comparative genomic hybridization. Oncogene 13 983–994

    PubMed  CAS  Google Scholar 

  43. Heselmeyer K, Schröck E, du Manoir S, Biegen H, Shah K, Steinbeck R, Auer G, Ried T (1996) Gain of chromosome 3q defines the transition from severe dysplasia to invasive carcinoma of the uterine cervix. Proc. Natl, Acad. Sci. USA 93: 479–484

    Article  CAS  Google Scholar 

  44. Isola JJ, Kallioniemi OP, Chu LW, Fuqua SAW, Hilsenbeck SG, Osborne CK, Waldman FM (1995) Genetic aberrations detected by comparative genomic hybridization predict outcome in node-negative breast cancer. Am. J. Hum. Pathol. 147 905–911

    CAS  Google Scholar 

  45. Visakorpi T, Hyytinen E, Kallioniemi A, Isola J, Kallioniemi OP (1994) Sensitive Detection of Chromosome Copy Number Aberrations in Prostate Cancer by Fluorescence In Situ Hybridization. Am. J. Pathol 145: 624–630

    PubMed  CAS  Google Scholar 

  46. Bernardino J, Apiou F, Gerbault-Seureau M, Malfoy B, Dutrillaux B (1998) Characterization of recurrent homogeneously staining regions in 72 breast carcinomas. Genes Chrom. Cancer 23: 100–108

    Article  PubMed  CAS  Google Scholar 

  47. Garini Y, Gil A, Bar-Am I, Cabib D, Katzir N (1999) Signal to noise analysis of multiple color fluorescence imaging microscopy. Cytometry 35(3): 214–226

    Article  PubMed  CAS  Google Scholar 

  48. Rowley JD, Reshmi S, Carlson K, Roulston D (1999) Spectral karyotype analysis of T-cell acute leukemia. Blood 93(6): 2038–2042

    PubMed  CAS  Google Scholar 

  49. Veldman T, Vignon C, Schröck E, Rowley JD, Ried T (1999) Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nature Genet 15: 406–411

    Article  Google Scholar 

  50. Ning Y, Liang JC, Nagarajan L, Schröck E, Ried T (1998) Characterization of 5q Deletions by Subtelomeric Probes and Spectral Karyotyping. Cancer Genet Cytogenet 103: 170–172

    Article  PubMed  CAS  Google Scholar 

  51. Ermantraut E (1999) Herstellung von biomolekularen Arrays — eine technologische Herausforderung, medgen 11: S. 6

    Google Scholar 

  52. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nicklenko J, Brenner A, Dohner H, Cremer T, Lichter P (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20(4): 399–407

    Article  PubMed  CAS  Google Scholar 

  53. Lampel S, Soder A, Nessling M, Bock D, Goettel D, Solinas-Toldo S, Stilgenbauer S, Döhner H, Lichter P (1999) Towards a disease specific matrix-CGH chip for the analyses of genetic imbalances in B-cell chronic lymphocytic leukemia. Cytogenetics and Cell Genetics 85: S. 31

    Google Scholar 

  54. Oscier D (1999) Chronic lymphocytic leukemia. Brit. J. Haematol. 105(Supplement 1): 1–3

    Google Scholar 

  55. Mitelman F, Johannson B, Mandahl N, Mertens F (1997) Clinical significance of cytogenetic findings in solid tumors. Cancer Genet Cytogenet 95: 1–8

    Article  PubMed  CAS  Google Scholar 

  56. Passarge E (1998) Hereditäre Tumorerkrankungen, medgen 10: 248–250

    Google Scholar 

  57. Wagener C (1996) Einführung in die Molekulare Onkologie. Thieme Verlag, Stuttgart

    Google Scholar 

  58. Kappler R (1998) Charakterisierung genomischer und genetischer Veränderungen in neuroektodermalen Tumoren der Ratte. Doktorarbeit Universität Kaiserslautern

    Google Scholar 

  59. Köhler MR, Sternlein C, Schröck E, et al (1999) Spectral Bio-Imaging in modern cytogenetics and pathology. E.C.A. Newsletter 4: 3–8

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2001 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Zankl, H. (2001). Molekularzytogenetische Tumordiagnostik. In: Raem, A.M., Braun, R.W., Fenger, H., Michaelis, W., Nikol, S., Winter, S.F. (eds) Gen-Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56818-3_16

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-56818-3_16

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-63152-8

  • Online ISBN: 978-3-642-56818-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics