title: The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts.
abstract: 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, these data do not support the notion of a major effect of the fragile X mutation on the expression of the HPRT gene.
authors.affiliation: Department of Clinical Genetics, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.
authors.forename: A M
authors.initials: AM
authors.lastname: Steen
authors.forename: S
authors.initials: S
authors.lastname: Marcus
authors.forename: S
authors.initials: S
authors.lastname: Sahlén
authors.forename: K B
authors.initials: KB
authors.lastname: Nielsen
authors.forename: B
authors.initials: B
authors.lastname: Lambert
mesh_terms: D002478:Cells, Cultured; D002874:Chromosome Mapping; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005600:Fragile X Syndrome / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D008297:Male; D009154:Mutation; D012313:RNA / Q000235:genetics
chemical_list: D012313:RNA; D007041:Hypoxanthine Phosphoribosyltransferase