The possibility of prenatal diagnosis by gene dosage: Confirmation of duplication 10q24→qter from GOT-1 activity in fetal erythrocytes

B. Dallapiccola, A. Pachi, G. Ferranti, G. Micara, M. Magnani, M. U. Dachà

Research output: Contribution to journalArticle


The activity of four enzymes, including GOT-1, has been investigated in the erythrocytes of a 10q→24qter 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.

Original languageEnglish
Pages (from-to)209-215
Number of pages7
JournalPrenatal Diagnosis
Issue number3
Publication statusPublished - 1981


ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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