title: Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.
abstract: A previously developed simple ultramicromethod has been used for the rapid prenatal diagnosis of hypoxanthine-guanine phosphoribosyl transferase (HG-PRT) deficiency. The method is based on the incubation of small numbers of visually selected, lyophilized fibroblasts (in the present study five cells per incubation) with radioactive substrate in an end volume of 0.3 microliter. Fibroblasts derived from the amniotic fluid of a 15-week male fetus in a heterozygote for the X-linked Lesch-Nyhan syndrome showed a severe degree of HG-PRT deficiency. In total 50 fibroblasts were used. The diagnosis was confirmed upon termination of the pregnancy by the demonstration of HG-PRT deficiency in fetal erythrocytes and cultured skin fibroblasts.
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005612:Freeze Drying; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D008722:Methods; D008832:Microchemistry; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase