Article
Mutations affecting RNA splicing in man are detected more frequently in somatic than in germ cells.
Mutation research - 1 Aug 1990
Rossi A M, Thijssen J C, Tates A D, Vrieling H, Natarajan A T, Lohman P H, van Zeeland A A
Abstract excerpt
The spectrum of DNA sequence alterations in the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene of HPRTase-deficient T-lymphocytes isolated from the blood of healthy male donors was determined and compared with the spectrum found in patients suffering from genetic diseases (Lesch-Nyhan syndrome or gouty arthritis) associated with a mutation in the same gene. Most of the T-cell mutants still produced...
Topics
- Arthritis, Gouty
- Base Sequence
- Germ Cells
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Lesch-Nyhan Syndrome
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA Splicing