A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome.
A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7-10 days. The procedure is based on the direct cultivation of amniotic cells in microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to 10,000 cells, and is followed by separation of the radioactive reaction products by means of microchromatography on 3 cm x 5 cm PEI plates. This method permits determination of the actual HGPRT enzyme activity of the cell lines.
D000653:Amniotic Fluid / Q000201:enzymology*; D002845:Chromatography; D002854:Chromatography, Paper; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000032:analysis*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D011296:Prenatal Diagnosis / Q000379:methods*
D007041:Hypoxanthine Phosphoribosyltransferase