Article Text

PDF

Biochemical diagnosis of cystinosis using cultured cells
  1. P. Willcox,
  2. A. D. Patrick

    Abstract

    A simple method is described for the biochemical diagnosis of cystinosis using small numbers of cells cultured in medium containing l-35S-cystine. Nonprotein sulphur-labelled compounds were extracted from the cells and separated by thin-layer chromatography. The abnormally high incorporation of 35S-cystine by cystinotic skin fibroblasts was apparent on visual examination of autoradiographs of the chromatograms and was quantitated by comparison with the incorporation of 35S into glutathione. The method was used to confirm the diagnosis of 6 cystinotic patients. The incorporation of 35S-cystine by 2- to 3-week cultures of control amniotic fluid cells obtained in early pregnancy was similar to that of control skin fibroblasts, suggesting that the method would also be of use in the early prenatal detection of cystinosis.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.