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The possibility of prenatal diagnosis by gene dosage: Confirmation of duplication 10q24→qter from Got‐l activity in fetal erythrocytes
Author(s) -
Dallapiccola B.,
Pachì A.,
Ferranti G.,
Micara G.,
Magnani M.,
Dachà M.
Publication year - 1981
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.1970010306
Subject(s) - fetus , prenatal diagnosis , gene , gene dosage , gestation , gene duplication , locus (genetics) , gene product , gestational age , abortion , andrology , biology , genetics , obstetrics , medicine , pregnancy , gene expression
Abstract The activity of four enzymes, including GOT‐1, has been investigated in the erythrocytes of a 10q→24qter 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 percent 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.