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Carrier detection in the Wiskott Aldrich syndrome
ER Fearon, DB Kohn, JA Winkelstein, B Vogelstein and RM Blaese
Oncology Center Research Laboratories, Johns Hopkins University School of
Medicine, Baltimore, MD 21231.
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.
Volume 72,
Issue 5,
pp. 1735-1739,
11/01/1988
Copyright © 1988 by The American Society of Hematology
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