Advertisement

Human Genetics

, Volume 60, Issue 2, pp 126–129 | Cite as

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation

  • Bernard Hellkuhl
  • Albert de la Chapelle
  • Karl-Heinz Grzeschik
Original Investigations

Summary

In lymphocytes of a human female carrier of a balanced X;3 translocation, 46,X,t(X;3)(q28;q21), late replication of the structurally normal X chromosome only was previously described (de la Chapelle and Schröder 1973). We have now confirmed this finding using a fresh blood sample. Examining the chromosomes of this individual in fibroblasts we observed that either the normal X or the Xq+ chromosome could replicate late and show inactivity after fusion with heteroploid mouse cells. The replication patterns of chromosomes in human X;autosome translocations have so far almost exclusively been analyzed in lymphocytes. Our findings stress that results based on these cells are not representative for all cell types.

Keywords

Internal Medicine Blood Sample Metabolic Disease Mouse Cell Fresh Blood 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Albertini RI, De Mars R (1974) Mosaicism of peripheral blood lymphocyte populations in female heterozygotes for the Lesch-Nyhan mutation. Biochem Genet 5:397–410Google Scholar
  2. Bakay B, Nyhan WL, Croce C, Koprowski H (1975) Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. J Cell Sci 17:567–577Google Scholar
  3. Brown JA, Goss S, Klinger HP, Miller OJ, Ohno S, Siniscalco M (1976) Report of the committee on the genetic constitution of the X and Y chromosomes. Birth Defects 12:54–59Google Scholar
  4. Carpenter NJ, Say B, Browning D (1980) Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. J Med Genet 17:216–221Google Scholar
  5. Dancis J, Berman PH, Jansen V, Balis ME (1968) Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricemia. Life Sci 7:587–591Google Scholar
  6. de la Chapelle A, Schröder J (1973) Apparently non-reciprocal balanced human (3q-;Xq+) translocation: Late replication of structurally normal X. In: Wahrman J, Lewis KR (eds) Chromosomes today, vol 4. John Wiley and Sons, New York, pp 261–265Google Scholar
  7. de la Chapelle A, Schröder J, Klinger HP, Aronson MM, Miller RC, Greene AE, Coriell LL (1975) An (X;3) translocation, balanced, 46 chromosomes. Cytogenet Cell Genet 15:404–405Google Scholar
  8. Disteche C, Eicher EM, Latt SA (1979) Late replication in an X-autosome translocation in the mouse: Correlation with genetic inactivation and evidence for selective effects during embryogenesis. Proc Natl Acad Sci USA 76:5234–5238Google Scholar
  9. Dutrillaux B, Lejeune J (1971) Sur une nouvelle technique d'analyse du caryotype humain. CR Acad Sci [D] (Paris) 272:2638–2640Google Scholar
  10. Dutrillaux B, Laurent C, Couturier J, Lejeune J (1973) Coloration par l'acridine orange de chromosomes préalablement traités par le 5 bromodéoxyuridine (BUDR). CR Acad Sci [D] (Paris) 276:3179–3181Google Scholar
  11. Grzeschik KH (1973) Syrian hamster-human somatic cell hybrids: Isolation and characterisation. Hum Genet 20:211–218Google Scholar
  12. Grzeschik KH, Siniscalco M (1975) Identification of a de novo chromosome rearrangement in a man-mouse hybrid clone and its bearing on the cytological map of the human X chromosome. Birth Defects 12: 149–156Google Scholar
  13. Grzeschik KH, Kim MA, Johannsmann R (1975) Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Hum Genet 29:41–59Google Scholar
  14. Klebe RJ, Chen TR, Ruddle FH (1970) Controlled production of proliferating somatic cell hybrids. J Cell Biol 45:74–78Google Scholar
  15. Lyon MF (1961) Gene action in the X chromosome of the mouse (mus musculus L.). Nature 190:372–373Google Scholar
  16. Nichols WW, Miller RC, Sobel M, Hoffman E, Sparkes RS, Mohandas T, Veomett I, Davis JR (1980) Further observations on a 13qXp translocation associated with retinoblastoma. Am J Ophthalmol 89:621–627Google Scholar
  17. Pagon RA, Hall JG, Davenport SLH, Aase J, Norwood TH, Hoehn HW (1979) Abnormal skin fibroblasts cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet 31:54–61Google Scholar
  18. Seabright M (1971) A rapid banding technique for human chromosomes. Lancet 2:971–972Google Scholar
  19. Therman E, Denniston C, Sarto GE, Ulber M (1980) X chromosome constitution and the human female phenotype. Hum Genet 54: 133–143Google Scholar
  20. Yunis JJ, Sawjer JR, Ball DW (1978) The characterization of high-resolution G-banded chromosomes of man. Chromosoma 67:293–307Google Scholar

Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • Bernard Hellkuhl
    • 1
  • Albert de la Chapelle
    • 2
  • Karl-Heinz Grzeschik
    • 1
  1. 1.Institut für HumangenetikUniversität MünsterMünsterGermany
  2. 2.Department of Medical GeneticsUniversity of HelsinkiHelsinki 29Finland

Personalised recommendations