The possibility of prenatal diagnosis by gene dosage: confirmation of duplication 10q24 to qter from GOT-1 activity in fetal erythrocytes.
The activity of four enzymes, including GOT-1, has been investigated in he erythrocytes of a 10q to 24 qter trisomic fetus. Analyses have been performed on a feto-maternal blood mixture sampled by fetoscopy and on red cells obtained by cardiac puncture, following therapeutic abortion. The demonstration of a 40 per cent increase of GOT-1 activity, as compared to normal fetuses of similar gestational age, suggests that gene dosage studies may be a useful confirmatory technique in prenatal diagnosis of unbalanced chromosomal aberrations. Practical application of a similar diagnostic approach is conditioned by (1) precise characterization of fetal chromosome imbalance; (2) confirmed assignment of the gene locus coding for the gene product under investigation; (3) evidence of a linear proportionality between gene dose and concentration of the gene product in patients with the same chromosome imbalance detected in the fetus; (4) knowledge of the range of normal variation at different weeks of gestation of the enzyme activity to be tested in the fetus; (5) safety of fetal sampling procedure.
D000328:Adult; D000483:Alleles; D001219:Aspartate Aminotransferases / Q000097:blood*; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005312:Fetal Blood / Q000201:enzymology*; D005332:Fetoscopy; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D006593:Hexokinase / Q000097:blood; D006801:Humans; D010732:Phosphofructokinase-1 / Q000097:blood; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
D001219:Aspartate Aminotransferases; D006593:Hexokinase; D010732:Phosphofructokinase-1; D005634:Fructose-Bisphosphate Aldolase