Carrier detection in the Wiskott Aldrich syndrome

E. R. Fearon, D. B. Kohn, J. A. Winkelstein, B. Vogelstein, R. M. Blaese

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)1735-1739
Number of pages5
JournalBlood
Volume72
Issue number5
DOIs
StatePublished - 1988

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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