Carrier detection in the Wiskott Aldrich syndrome

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

Research output: Contribution to journalArticle

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
StatePublished - 1988

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Wiskott-Aldrich Syndrome
Chromosomes
Cells
X Chromosome Inactivation
Methylation
T-cells
Polymorphism
Blood
Genes
X-Linked Genes
Granulocytes
Restriction Fragment Length Polymorphisms
Thrombocytopenia
Blood Cells
B-Lymphocytes
T-Lymphocytes
Population

ASJC Scopus subject areas

  • Hematology

Cite this

Fearon, E. R., Kohn, D. B., Winkelstein, J. A., Vogelstein, B., & Blaese, R. M. (1988). Carrier detection in the Wiskott Aldrich syndrome. Blood, 72(5), 1735-1739.

Carrier detection in the Wiskott Aldrich syndrome. / Fearon, E. R.; Kohn, D. B.; Winkelstein, J. A.; Vogelstein, Bert; Blaese, R. M.

In: Blood, Vol. 72, No. 5, 1988, p. 1735-1739.

Research output: Contribution to journalArticle

Fearon, ER, Kohn, DB, Winkelstein, JA, Vogelstein, B & Blaese, RM 1988, 'Carrier detection in the Wiskott Aldrich syndrome', Blood, vol. 72, no. 5, pp. 1735-1739.
Fearon ER, Kohn DB, Winkelstein JA, Vogelstein B, Blaese RM. Carrier detection in the Wiskott Aldrich syndrome. Blood. 1988;72(5):1735-1739.
Fearon, E. R. ; Kohn, D. B. ; Winkelstein, J. A. ; Vogelstein, Bert ; Blaese, R. M. / Carrier detection in the Wiskott Aldrich syndrome. In: Blood. 1988 ; Vol. 72, No. 5. pp. 1735-1739.
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