Article
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
The Journal of clinical investigation - 1 Feb 1995
Puck J M, Pepper A E, Bédard P M, Laframboise R
Abstract excerpt
The IL2RG gene encoding the gamma chain of the lymphocyte receptor for IL-2 lies in human Xq13.1 and is mutated in males with X-linked severe combined immunodeficiency (SCID). In a large Canadian pedigree genetic linkage studies demonstrated that the proband's grandmother was the source of an X-l...
Topics
- Amino Acid Sequence
- Base Sequence
- Canada
- Chromosome Mapping
- DNA Primers
- DNA Transposable Elements
- Exons
- Female
- Humans
- Infant
- Macromolecular Substances
- Male
- Molecular Sequence Data
- Mosaicism
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic