Skip to main content
SpringerLink
Log in

Human karyotype polymorphism

I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population

  • Original Investigations
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

In the article the results of a parallel routine and fluorescent investigation of chromosomes in 103 normal individuals (51 women and 52 men) are presented. There were no gross chromosomal abnormalities in the individuals studied, but in 30 (29.1%) of them various autosomal variants (1q+, 9q+, 16q+, 17ph+, Dp+, Gp+, et al.) were detected by the routine method. Five men (9.5%) had Y chromosome variants. The authors were successful in identifyng practically all these chromosomal variant by their fluorescent banding patterns. The occurrence of brilliant fluorescent bands in chromosome parts showing variable fluorescence (paracentromeric area of chromosome 3, short arms and satellites of acrocentric chromosomes and the distal part of Y chromosome) was also investigated. Some questions connected with karyotype polymorphism in man are discussed.

Zusammenfassung

Die Ergebnisse einer Chromosomenuntersuchung mit konventionellen Methoden einerseits und mit der Fluorescenzmethode andererseits bei 103 Normalpersonen (51 Frauen, 52 Männer) werden vorgelegt. Die untersuchten Personen zeigten keine stärkeren Chromosomen-Anomalien; 30 (29,1%) zeigten jedoch verschiedene autosomale Varianten (1q+, 9q+, 16q+, 17ph+, Dp+, Gp+, u.a.), die mit konventionellen Methoden entdeckt werden konnten. Fünf Männer (9,5%) zeigten Varianten des Y-Chromosoms. Praktisch alle diese Varianten konnten auch mit Hilfe der Fluorescenztechnik identifiziert werden. Daneben wurde das Vorkommen brillanter Fluorescenzbanden in Chromosomen, die eine variable Fluorescenz zeigen, untersucht (parazentrischer Bereich des Chromosoms 3; kurze Arme und Satelliten der akrozentrischen Chromosomen; distaler Teil des Y-Chromosoms 3; kurze Arme und Satelliten der akrozentrischen Chromosomen; distaler Teil des Y-Chromosoms). Einige Fragen im Zusammenhang mit dem Polymorphismus des Karyotyps beim Menschen werden diskutiert.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Battaglia, E., Guanti, G., Barsanti, P., Petrinelli, P.: Chromosomal survey in 298 normal subjects and 1253 cases of congenital disorders during 1966–1970. Acta Genet. med. (Roma) 20, 123–173 (1971)

    CAS  Google Scholar 

  • Bobrow, M., Madan, K., Pearson, P. L.: Variation in the staining of centromeres of different human chromosomes. Nature (Lond.) 1972 (quoted according to P. Pearson, 1972)

  • Bobrow, M., Pearson, P. L., Collacott, H. E. A. C.: Paranucleolar position of the human Y chromosome in interphase nuclei. Nature (Lond.) 232, 556–557 (1971)

    Article  CAS  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Caspersson, T., Zech, L., Johansson, C.: Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents. Exp. Cell Res. 62, 490–492 (1970b)

    Article  CAS  PubMed  Google Scholar 

  • Court-Brown, W. M.: Human population cytogenetics. Amsterdam: North-Holland 1967

    Google Scholar 

  • Court-Brown, W. M., Buckton, K. E., Jacobs, P. A., Tough, I. M., Kuenssberg, E. V., Knox, J. D.: Chromosome studies on adults. Eugenics Laboratory Memoirs 42, London 1966

  • Drets, M. E., Schaw, M. W.: Specific banding patterns of human chromosomes. Proc. nat. Acad. Sci. (Wash.) 68, 2073–2077 (1971)

    CAS  Google Scholar 

  • Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyse du caryotype humain. C. R. Acad. Sci. (Paris) 272, 2638–2640 (1971)

    CAS  Google Scholar 

  • Evans, H. J., Buckton, K. E., Sumner, A. T.: Cytological mapping of human chromosomes: results obtained with quinacrine fluorescence and the acetic-saline-Giemsa techniques. Chromosoma (Berl.) 35, 310–325 (1971)

    Article  CAS  Google Scholar 

  • Gagné, R., Laberge, C., Tanguay, R.: Interphase association of human “Y body” with nucleolus. Hopkins med. J. 130, 254–258 (1972)

    Google Scholar 

  • Gagné, R., Laberge, C., Tanguay, R.: Aspect cytologique et localisation intranucléaire de l'hétérochromatine constitutive des chromosomes C9 chez l'homme. Chromosoma (Berl.) 41, 159–166 (1973)

    Article  Google Scholar 

  • Hecht, F., Case, M. P., Lovrien, E. W., Higgins, J. V., Thuline, H. C., Melnyk, J.: Non-randomness of translocations in man: preferential entry of chromosomes into 13–15/21 translocations. Science 161, 371–372 (1968)

    CAS  PubMed  Google Scholar 

  • Jones, K. W., Corneo, G.: Location of satellite and homogeneous DNA sequences on human chromosomes. Nature (Lond.) New Biol. 233, 268–271 (1971)

    CAS  Google Scholar 

  • Lomholt, B., Mohr, J.: Human karyotyping by heat-Giemsa staining and comparison with fluorochrome techniques. Nature (Lond.) New Biol. 234, 109–110 (1971)

    CAS  Google Scholar 

  • Lubs, H. A., Ruddle, F. H.: Applications of quantitative karyotypy to chromosome variation in 4400 consecutive newborns. In: Human population cytogenetics. Pfizer Medical Monographs 5. Edinburg: U/P 1970

  • Mellman, W. J.: Human peripheral blood leucocyte cultures. In: Human chromosome methodology, J. J. Yunis, Ed. New York-London: A/P 1965

    Google Scholar 

  • Paris Conference (1971): Standardization in human cytogenetics. Birth Defects: Original Article Series, VIII: 7. New York: The National Foundation 1972

  • Patil, S. R., Merrick, S., Lubs, H. A.: Identification of each human chromosome with a modified Giemsa stain. Science 173, 821–822 (1971)

    CAS  PubMed  Google Scholar 

  • Saunders, G. F., Hsu, T. C., Getz, M. J., Simes, E. L., Arrighi, F. E.: Locations of a human satellite DNA in human chromosomes. Nature (Lond.) New Biol. 236, 244–246 (1972)

    CAS  Google Scholar 

  • Schnedl, W.: Analysis of the human karyotype using a reassociation technique. Chromosoma (Berl.) 34, 448–454 (1971a)

    Article  CAS  Google Scholar 

  • Schnedl, W.: Unterschiedliche Fluorescenz der beiden homologen Chromosomen Nr. 3 beim Menschen. Humangenetik 12, 59–63 (1971b)

    Article  CAS  PubMed  Google Scholar 

  • Seabright, M.: Rapid banding technique for human chromosomes. Lancet 1971 II, 971–972

    Google Scholar 

  • Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature (Lond.) New Biol. 232, 31–32 (1971)

    CAS  Google Scholar 

  • Wahlström, J.: Human chromosomes and fluorescence. Humangenetik 12, 77–78 (1971)

    PubMed  Google Scholar 

  • Walzer, S., Break, G., Gerald, P. S.: A chromosome survey of 2400 normal newborn infants. J. Pediat. 74, 438–448 (1969)

    CAS  PubMed  Google Scholar 

  • Zankl, H., Zang, K. D.: Structural variability of the normal human karyotype. Human-genetik 13, 160–162 (1971)

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Genetic Unit of Central Medical Research, Laboratory of Tartu State University, 202400, Tartu, Estonia, USSR

    A. -V. N. Mikelsaar, S. J. Tüür & M. E. Käosaar

Authors
  1. A. -V. N. Mikelsaar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. J. Tüür
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. E. Käosaar
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

This investigation is partly supported by the WHO grant HG-70/9684148/23.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mikelsaar, A.V.N., Tüür, S.J. & Käosaar, M.E. Human karyotype polymorphism. Humangenetik 20, 89–101 (1973). https://doi.org/10.1007/BF00284843

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00284843

Keywords

Search

Navigation