Premium
Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells
Author(s) -
Dallapiccola B.,
Novelli G.,
Micara G.,
Ferranti G.,
Pachi A.,
Magnani M.
Publication year - 1983
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970030410
Subject(s) - gene duplication , amniocentesis , fetus , prenatal diagnosis , amniotic fluid , gene dosage , gene , pregnancy , biology , in utero , andrology , microbiology and biotechnology , medicine , genetics , gene expression
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.