Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1)

Georg S. Wengler, Silvia Giliani, Maurilia Fiorini, Patrizia Mella, Elide Mantuano, Alessandra Zanola, Gabriella Pollonini, Martha M. Eibl, Alberto G. Ugazio, Luigi D. Notarangelo, Ornella Parolini

Research output: Contribution to journalArticlepeer-review

Abstract

X-linked severe combined immunodeficiency (SCIDX1) is an inherited disease characterized by profound abnormalities of cell-mediated and humoral immunity. Patients with SCIDX1 have defects in the common cytokine receptor gamma chain gene (IL2RG) that encodes a shared, essential component of the receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9 and IL-15. We have characterized nine SCIDX1 families by using a DNA-based, non-radioactive screening method and DNA sequencing. Nine different mutations were found scattered from exon 1 to exon 5 of the IL2RG gene. Two of these mutations have been previously identified in other unrelated patients; the other seven are novel mutations that differ from all of the 95 already reported in the IL2RG mutation data base. In addition to describing novel mutations in the IL2RG gene, this study-shows that the knowledge of the genetic defect and the use of an efficient, non-radioactive, and rapid screening approach have important implications for prenatal and postnatal diagnosis, carrier female identification, and possibly prenatal therapy.

Original languageEnglish
Pages (from-to)586-591
Number of pages6
JournalBritish Journal of Haematology
Volume101
Issue number3
Publication statusPublished - 1998

Keywords

  • Mutation analysis
  • Non-radioactive
  • Prenatal diagnosis
  • SCIDX1
  • SSCP-PCR

ASJC Scopus subject areas

  • Hematology

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