CARRIER DETECTION IN THE WISKOTT ALDRICH SYNDROME

  • 1 November 1988
    • journal article
    • research article
    • Vol. 72  (5) , 1735-1739
Abstract
The Wiskott-Aldrich syndrome (WAS) in a 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 (RLPs), 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 those of normal controls. Thus, carriers of WAS could be accurately identified using this analysis.