Human Genetics

, Volume 96, Issue 4, pp 427–432

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2Rγ chain gene by single-strand conformation polymorphism analysis

  • Paula A. Clark
  • Tracy Lester
  • Sally Genet
  • Alison M. Jones
  • Rudi Hendriks
  • Roland J. Levinsky
  • Christine Kinnon
Original Investigation

DOI: 10.1007/BF00191801

Cite this article as:
Clark, P.A., Lester, T., Genet, S. et al. Hum Genet (1995) 96: 427. doi:10.1007/BF00191801

Abstract

Mutations in the common gamma chain (γc or IL2RG) of the interleukin-2, −4, −7, −9 and −15 receptors have been found to cause X-linked severe combined immunodeficiency (SCIDX1). We report here on the mutations identified in a further ten families. Two of the mutations identified have occurred twice in unrelated families, indicating two possible mutational hotspots. Seven of the mutations, which were identified by single-strand conformational polymorphism (SSCP) analysis, are point mutations, and the eighth is a small deletion. We also report on the first use of assays based on these mutations within IL2RG for unambiguous carrier determination. The consequences for the γc proteins produced as a result of these mutations are discussed.

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Paula A. Clark
    • 1
  • Tracy Lester
    • 1
  • Sally Genet
    • 2
  • Alison M. Jones
    • 1
  • Rudi Hendriks
    • 3
  • Roland J. Levinsky
    • 1
  • Christine Kinnon
    • 1
  1. 1.Molecular Immunology UnitInstitute of Child HealthLondonUK
  2. 2.Clinical Genetics UnitInstitute of Child HealthLondonUK
  3. 3.Department of Cell Biology and GeneticsRotterdamThe Netherlands

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