Carrier detection in the Wiskott Aldrich syndrome |
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Authors: | Fearon ER; Kohn DB; Winkelstein JA; Vogelstein B; Blaese RM |
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Institution: | Oncology Center Research Laboratories, Johns Hopkins University School of Medicine, Baltimore, MD 21231. |
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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. |
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