The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts.

Human genetics ·Vol. 87 ·No. 4 ·1991-08-00 ·Pages 503-5

Steen AM, Marcus S, Sahlén S, Nielsen KB, Lambert B

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.

MeSH Terms

Cells, Cultured Chromosome Mapping Female Fibroblasts/enzymology Fragile X Syndrome/genetics Gene Expression Humans Hypoxanthine Phosphoribosyltransferase/genetics Male Mutation RNA/genetics

Chemicals

RNA Hypoxanthine Phosphoribosyltransferase

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Steen A M

Department of Clinical Genetics, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.

Marcus S

Sahlén S

Nielsen K B

Lambert B

References (9)

9 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00197177

Published

1991-08-00

Pages

503-5

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00197177 View journal details

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The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts.

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