Article
Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.
Human genetics - 1 Oct 1995
Clark P A, Lester T, Genet S, Jones A M, Hendriks R, Levinsky R J, Kinnon C
Abstract excerpt
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...
Topics
- Base Sequence
- Genetic Linkage
- Genetic Testing
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Receptors, Interleukin-2