Article
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
Human molecular genetics - 1 Nov 1995
Santisteban I, Arredondo-Vega F X, Kelly S, Loubser M, Meydan N, Roifman C, Howell P L, Bowen T, Weinberg K I, Schroeder M L
Abstract excerpt
We report three novel adenosine deaminase (ADA) mutations with interesting implications. A Somali child with severe combined immunodeficiency disease (SCID) had reduced ADA mRNA in T cells and was homozygous for the nonsense mutation Q3X. Unexpectedly, her healthy father was a compound ADA heterozygote whose second allele carried a 'partial' mutation, R142Q, due to a G-->A transition of a CpG dinucleotide. A...
Topics
- Adenosine Deaminase
- Base Sequence
- Biological Evolution
- Canada
- Child, Preschool
- DNA, Complementary
- Dinucleoside Phosphates
- Enhancer Elements, Genetic
- Female
- Humans