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Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
  1. Correspondence to:
 Emmanuelle Girodon
 Service de Biochimie et Génétique, AP-HP et INSERM U468, Hôpital Henri-Mondor, 94010 Créteil, France; Emmanuelle.Girodonim3.inserm.fr
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Citation

Niel F, Martin J, Dastot-Le Moal F, et al
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

Publication history

  • Received June 15, 2004
  • Accepted June 16, 2004
  • First published November 1, 2004.
Online issue publication 
November 01, 2004
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    • [View PDF] - Figure 1 Electropherograms from semi-quantitative fluorescent multiplex PCR experiments. The x axis displays the computed length of the PCR products in base pairs as determined by using an internal lane standard, which is indicated in black. The y axis shows fluorescent intensities in arbitrary units. Gene fragments are indicated at the top of the corresponding peaks. The electropherograms of the controls are in red and those of the patients are in blue. The profiles were superimposed and normalised using the exon 4 DSCR1 amplicon. The abnormal profiles have been highlighted by arrows and extended (windows). (A) CFTRdele17a�17b visualised from MP 3 in patient no. 7 (twofold decrease in peak intensities for exons 17a and 17b). (B) CFTRdele1�24, visualised from MP 2 in patient no. 10 (twofold decrease in peak intensity for all CFTR exons). For CFTR exon 9, the presence of a double peak in the control is attributable to the (TG)mTn polymorphism. (C) CFTRdup4�8, visualised from MP 1 in patient no. 11�s mother (1.5-fold increase in peak intensity for exons 4�6a). She carries in trans the �912dupT polymorphism in the promoter region (double peak).

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