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 those of normal controls. Thus, carriers of WAS could be accurately identified using this analysis.
Original language | English (US) |
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Pages (from-to) | 1735-1739 |
Number of pages | 5 |
Journal | Blood |
Volume | 72 |
Issue number | 5 |
DOIs | |
State | Published - 1988 |
ASJC Scopus subject areas
- Biochemistry
- Immunology
- Hematology
- Cell Biology