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

✍ Scribed by Paula A. Clark; Tracy Lester; Sally Genet; Alison M. Jones; Rudi Hendriks; Roland J. Levinsky; Christine Kinnon

Publisher: Springer
Year: 1995
Tongue: English
Weight: 894 KB
Volume: 96
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00191801

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✦ Synopsis

Mutations in the common gamma chain (y~ 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 y~ proteins produced as a result of these mutations are discussed.

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