A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies

Ornella Parolini, Georg S. Wengler, Maurilia Fiorini, Patrizia Mella, Hedy Smith, Alberto G. Ugazio, Luigi D. Notarangelo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

24 Citazioni (Scopus)


The Wiskott-Aldrich syndrome (WAS), X-linked severe combined immunodeficiency (SCIDX1), and X-linked agammaglobulinemia (XLA) are severe congenital immunodeficiencies with X-linked inheritance. Although rare, they are all associated with severe infections from early in life, and high morbidity and mortality. Female carriers of these diseases can be identified by a non-random pattern of X-chromosomal inactivation in cell lineages targeted by each gene defect. For patients with WAS, SCIDX1 or XLA, the demonstration of non random X-Chromosome inactivation in their mothers can be used to confirm clinical diagnosis. Furthermore, analysis of X-Chromosome inactivation in at risk females allows preconceptional carrier detection, thus representing an important aid in genetic counseling. For each disease we established a PCR-based, non radioactive assay at the human androgen receptor (HUMARA) locus, that allows analysis of X-Chromosome inactivation in the affected cell types and in tissue specific controls to exclude the issue of skewed X-chromosomal inactivation. In our study, 50 females with a known family history of XLA [19], WAS [18], and SCIDX1 [13],were examined. A carrier status was established in 19 females (7 XLA, 6 WAS, 6 SCIDX1) and excluded in 29 ( 11 XLA, 11 WAS, 7 SCIDX1). Only in 2 cases (4%) the assay was not informative
Lingua originaleEnglish
pagine (da-a)1405-1411
Numero di pagine7
RivistaLife Sciences
Stato di pubblicazionePubblicato - 1997


  • Cell Lineage
  • Cell Separation
  • Dosage Compensation, Genetic
  • Female
  • Flow Cytometry
  • Genetic Counseling
  • Genomic Imprinting
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Receptors, Androgen
  • Severe Combined Immunodeficiency

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