Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay.
A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease has been investigated by assay of adenosine deaminase activity in cultured amniotic fluid cells using a microradioassay. A low-normal level of activity consistent with heterozygote status in the foetus was found and confirmed after birth by assay of red cell and fibroblast adenosine deaminase activities. It is suggested that the radioassay method offers significant advantages in sensitivity and specificity over the standard spectrophotometric procedure.
D000243:Adenosine Deaminase / Q000097:blood / Q000172:deficiency*; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D003241:Consanguinity; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005312:Fetal Blood / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology*; D007231:Infant, Newborn; D008832:Microchemistry; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011488:Protein Deficiency / Q000175:diagnosis / Q000235:genetics*
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase