Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS

Luigi D. Notarangelo, Ornella Parolini, Fulvio Porta, Franco Locatelli, Arnalda Lanfranchi, Massimo Marconi, Luigi Nespoli, Alberto Albertini, Ian W. Craig, Alberto G. Ugazio

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27β, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway.

Original languageEnglish
Pages (from-to)237-241
Number of pages5
JournalHuman Genetics
Volume88
Issue number2
DOIs
Publication statusPublished - Dec 1991

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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