You are here

Article Text

Article menu
Download PDFPDF
Research Article
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
  1. R Arngrimsson,
  2. I Dokal,
  3. L Luzzatto,
  4. J M Connor
  1. Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.

    Abstract

    Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.

    https://doi.org/10.1136/jmg.30.7.618

    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.