You are here

Article Text

Article menu
Download PDFPDF
Research Article
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
  1. C Lavedan,
  2. H Hofmann,
  3. P Shelbourne,
  4. C Duros,
  5. D Savoy,
  6. K Johnson,
  7. C Junien
  1. INSERM U73, Génétique et Pathologie Foetale, Château de Longchamp, Bois de Boulogne, Paris, France.

    Abstract

    We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was increased from a PIC value of 0.57 to 0.69. Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers.

    https://doi.org/10.1136/jmg.28.2.89

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.