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Human Genetics

, Volume 97, Issue 5, pp 659–667 | Cite as

Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations

  • Olivier Cohen
  • Christine Cans
  • Jean Louis Gilardi
  • Hubert Roth
  • Marie-Ange Mermet
  • Pierre Jalbert
  • Jacques Demongeot
  • Martine Cuillel
Original Investigation

Abstract

Reciprocal translocations (rcp) are among the most common constitutional chromosomal aberrations in man. Using a European database of 1574 families carrying autosomal rep, a cartographic study was done on the breakpoints involved. The breakpoints are non-randomly distributed along the different chromosomes, indicating “hot spots”. Breakpoints of rep that result in descendants that are unbalanced chromosomally at birth are more frequent in a distal position on chromosomal arms, and 65% of them are localised in R-bands. Among the R-bands, bands rich in GC islands and poor in Alu repetitive sequences are more frequently the site of breakpoints, as well as bands that include a fragile site. This result suggests that the variation in degree of methylation in GC islands could be involved in chromosomal breakage and hence in chromosomal rearrangements.

Keywords

Internal Medicine Metabolic Disease Chromosomal Aberration Repetitive Sequence Chromosomal Rearrangement 
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.

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Olivier Cohen
    • 1
  • Christine Cans
    • 1
  • Jean Louis Gilardi
    • 1
  • Hubert Roth
    • 1
  • Marie-Ange Mermet
    • 1
  • Pierre Jalbert
    • 1
  • Jacques Demongeot
    • 1
  • Martine Cuillel
    • 2
  1. 1.ECOGENE, Constitutional Genetic LaboratoryMedical School of GrenobleLa Tronche CedexFrance
  2. 2.Molecular and Cellular Biophysic LaboratoryCentre d'Etudes Nucléaires de GrenobleGrenoble CedexFrance

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