Prenatal prediction of duplication 10q24 leads to qter by gene dosage of GOT1 on uncultured amniotic cells.
Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to 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 leads to 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 leads to qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis.
D000328:Adult; D000653:Amniotic Fluid / Q000201:enzymology; D001219:Aspartate Aminotransferases / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005786:Gene Expression Regulation; D005819:Genetic Markers; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
D005819:Genetic Markers; D001219:Aspartate Aminotransferases