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 |
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| Authors: | Luigi D Notarangelo Ornella Parolini Fulvio Porta Franco Locatelli Arnalda Lanfranchi Massimo Marconi Luigi Nespoli Alberto Albertini Ian W Craig Alberto G Ugazio |
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| Institution: | (1) Department of Pediatrics and Institute of Chemistry, University of Brescia, c/o Spedali Civili, I-25123 Brescia, Italy;(2) Department of Pediatrics, University of Pavia, Pavia, Italy;(3) Genetics Laboratory, Department of Biochemistry, University of Oxford, Oxford, UK |
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| Abstract: | Summary 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 , 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. |
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