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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

12 Citazioni (Scopus)

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 M27 beta, 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.
Lingua originaleEnglish
pagine (da-a)237-241
Numero di pagine5
RivistaHuman Genetics
Volume88
DOI
Stato di pubblicazionePubblicato - 1991

Keywords

  • Dosage Compensation, Genetic
  • Gene Expression
  • Granulocytes
  • Hematopoietic Stem Cells
  • Heterozygote
  • Humans
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • T-Lymphocytes
  • Thrombocytopenia
  • Wiskott-Aldrich Syndrome
  • X Chromosome

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