A high performance liquid chromatography method for the analysis of 35S-cystine: application to the diagnosis of cystinosis.
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.
Hall
N A
NA
Department of Clinical Biochemistry, Institute of Child Health, London UK.
Young
E P
EP
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
D013462:Sulfur Radioisotopes; D003553:Cystine