Premium
Mutation analysis by a non‐radioactive single‐strand conformation polymorphism assay in nine families with X‐linked severe combined immunodeficiency (SCIDX1)
Author(s) -
Wengler Georg S.,
Giliani Silvia,
Fiorini Maurilia,
Mella Patrizia,
Mantuano Elide,
Zanola Alessandra,
Pollonini Gabriella,
Eibl Martha M.,
Ugazio Alberto G.,
Notarangelo Luigi D.,
Parolini Ornella
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00721.x
Subject(s) - exon , common gamma chain , mutation , gene , severe combined immunodeficiency , genetics , immunodeficiency , biology , prenatal diagnosis , dna , gene mutation , immunity , microbiology and biotechnology , immunology , immune system , fetus , pregnancy , interleukin 21 receptor
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.