Carrier detection in the Wiskott Aldrich syndrome

作者：ER Fearon, Donald B. Kohn, JA Winkelstein, Bert Vogelstein, R. Michael Blaese · 发表于：Blood · 年份：1988 · DOI：10.1182/blood.v72.5.1735.1735 · 被引用次数：105 · 研究领域：Cell Adhesion Molecules Research、Immunodeficiency and Autoimmune Disorders、Platelet Disorders and Treatments

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.