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Research Article
Fine mapping of the dyskeratosis congenita locus in Xq28.
  1. S W Knight,
  2. T Vulliamy,
  3. G L Forni,
  4. D Oscier,
  5. P J Mason,
  6. I Dokal
  1. Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.

    Abstract

    Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X linked recessive trait. The locus for the X linked recessive form of DC has been linked to Xq28. We have now extended our earlier studies by investigating five families with additional Xq28 polymorphic markers; analysis of recombination events in these families has located the DC1 locus between GABRA3 and DXS1108, an interval of approximately 4 Mb.

    https://doi.org/10.1136/jmg.33.12.993

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