Article
The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts.
Human genetics - 1 Aug 1991
Steen A M, Marcus S, Sahlén S, Nielsen K B, Lambert B
Abstract excerpt
The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower (although not statistically significantly lower) than in normal fibroblast cultures. Hence,...
Topics
- Cells, Cultured
- Chromosome Mapping
- Female
- Fibroblasts
- Fragile X Syndrome
- Gene Expression
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Male
- Mutation
- RNA