title: A high performance liquid chromatography method for the analysis of 35S-cystine: application to the diagnosis of cystinosis.
abstract: An HPLC method for the measurement of radioactively labelled cystine is described. This method has been applied to studies of the uptake and retention of 35S-cystine by cultured cells. Radioactive cystine was measured, as a proportion of the non-protein labelled products in cultured cells incubated with medium containing 35S-cystine. Cells from healthy individuals contained less than 7% cystine whereas cells from cases of cystinosis contained at least 19% cystine. The method has been applied to the prenatal diagnosis of cystinosis. The use of flow radioactivity detection provides the advantages of rapid diagnosis and quantitation of metabolites.
authors.affiliation: Department of Clinical Biochemistry, Institute of Child Health, London UK.
authors.forename: N A
authors.initials: NA
authors.lastname: Hall
authors.forename: E P
authors.initials: EP
authors.lastname: Young
mesh_terms: D000650:Amnion / Q000032:analysis; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000032:analysis; D002851:Chromatography, High Pressure Liquid; D003553:Cystine / Q000032:analysis*; D003554:Cystinosis / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013462:Sulfur Radioisotopes
chemical_list: D013462:Sulfur Radioisotopes; D003553:Cystine