Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells |
| |
Authors: | Professor B Dallapiccola G Novelli G Micara G Ferranti A Pachi M Magnani |
| |
Institution: | 1. Cattedra di Genetica Umana, Università di Urbino, Italy;2. Clinica Ostetrica e Ginecologica II and Centra di Diagnosi Prenatale, La Sapienza, Università di Roma, Italy;3. Istituto di Chimica Biologica, Università di Urbino, Italy |
| |
Abstract: | Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24→qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red blood cells of a 10q24→qter trisomic fetus monitored by midtrimester amniocentesis. In the present pregnancy, the GOT1 activity of amniotic cells exhibited a triplex gene dosage, suggesting duplication of region 10q24→qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis. |
| |
Keywords: | Gene dosage Glutamic-oxaloacetic transaminase (GOT1) Trisomy 10q |
|
|