Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.

Abstract

Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased 35S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for 35S-sulphate incorporation, the cultures showed either twice the normal 35S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate.

• Authors: T Tønnesen, C Lykkelund, F Güttler
• Journal: Human genetics (Hum Genet) Vol. 60 Issue 2 Pg. 167-71 ( 1982) ISSN: 0340-6717 [Print] Germany
• PMID: 6210620 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fructosephosphates
• Glycosaminoglycans
• Mannosephosphates
• Sulfates
• Sulfur Radioisotopes
• mannose-6-phosphate

Topics

• Adult
• Cells, Cultured
• Female
• Fibroblasts (metabolism)
• Fructosephosphates (pharmacology)
• Genetic Carrier Screening
• Genetic Linkage
• Glycosaminoglycans (metabolism)
• Humans
• Mannosephosphates (pharmacology)
• Middle Aged
• Mucopolysaccharidosis I (diagnosis, genetics)
• Mucopolysaccharidosis II (diagnosis, genetics)
• Sulfates (metabolism)
• Sulfur Radioisotopes
• X Chromosome