✦ LIBER ✦
The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts
✍ Scribed by Ann-Marie Steen; Suzanne Marcus; Sigrid Sahlén; Karen Brøndum Nielsen; Bo Lambert
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 280 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
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.