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

Mutations in the common gamma chain (gamma c 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 t...

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Bibliographic Details
Published in:Human genetics 1995-10, Vol.96 (4), p.427-432
Main Authors: Clark, P A, Lester, T, Genet, S, Jones, A M, Hendriks, R, Levinsky, R J, Kinnon, C
Format: Article
Language:English
Subjects:
Base Sequence
Genetic Linkage
Genetic Testing
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational
Receptors, Interleukin-2 - genetics
Severe Combined Immunodeficiency - genetics
X Chromosome
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Summary:Mutations in the common gamma chain (gamma c 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 gamma c proteins produced as a result of these mutations are discussed.
ISSN:0340-6717
DOI:10.1007/BF00191801