Condensed chromatin surface and NORs surface enhancement in mitogen-stimulated lymphocytes of Down syndrome patients

Ann Genet. 2001 Apr-Jun;44(2):77-82. doi: 10.1016/s0003-3995(01)01041-3.

Abstract

Mitogen-stimulated lymphocytes of 20 Down syndrome (DS) patients with regular trisomy 21 contain more condensed chromatin surface (11.28 +/- 2.64 % of the total nuclear surface: mean +/- SD) and more nucleolus organiser regions surface (13.21 +/- 3.45 %) than that of 12 healthy controls: (8.84 +/- 2.23 and 9.12 +/- 2.33 %, reciprocally). The source of this peculiarity has been investigated. A computer program was designed for the planimetric measurement of the condensed chromatin surface (CCs)/ total nuclear surface(TNs) and the nucleolus organiser regions surface (NORss) /TNs proportions in interphase nuclei. CCs/TNs and NORss/TNs of 100 maximally activated nuclei (MANs) were measured for each patient and control case. The difference was found highly significant (P<0.01). Nuclei with a diameter of >/= 17 micrometer measured on the slide (in flattened state) were considered as maximally activated nuclei (MANs). NORss/TNs enhancement and fluorescent in situ hybridisation (FISH) studies in MANs of DS patients indicate that this phenomenon is due to the over-expression (or lack of downregulative mechanism) of NORs (rDNA) to some extent, including the NOR of the supernumerary chromosome 21. No statistical difference was observed between 12 healthy controls and 5 Robertsonian translocation type of DS Patients (where the two involved NORs are missing) when the two parameters were considered.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Cell Nucleus / drug effects
  • Cell Nucleus / metabolism
  • Cell Nucleus / pathology
  • Cells, Cultured
  • Chromatin / genetics
  • Chromatin / metabolism
  • Chromatin / pathology*
  • Down Syndrome / genetics*
  • Down Syndrome / pathology*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphocytes / drug effects*
  • Lymphocytes / metabolism
  • Lymphocytes / pathology
  • Mitogens / pharmacology*
  • Nucleolus Organizer Region / genetics
  • Nucleolus Organizer Region / metabolism
  • Nucleolus Organizer Region / pathology*
  • Silver Staining

Substances

  • Chromatin
  • Mitogens