Blood Journal
Leading the way in experimental and clinical research in hematology

Carrier detection in the Wiskott Aldrich syndrome

  1. ER Fearon,
  2. DB Kohn,
  3. JA Winkelstein,
  4. B Vogelstein, and
  5. RM Blaese
  1. Oncology Center Research Laboratories, Johns Hopkins University School of Medicine, Baltimore, MD 21231.

Abstract

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in various cell populations from female relatives of patients with WAS. The peripheral blood T cells, granulocytes, and B cells of eight obligate WAS carriers were found to display specific patterns of X-chromosome inactivation clearly different from these of normal controls. Thus, carriers of WAS could be accurately identified using this analysis.