Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion |
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| Authors: | Ph. Simon C. Decoster H. Brocas J. Schwers G. Vassart |
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| Affiliation: | (1) Institute of Interdisciplinary Research, Free University of Brussels, School of Medicine, Campus Erasme, Route de Lennik 808, B-1070 Brussels, Belgium;(2) Service de Gynécologie, Hôpital Erasme, Free University of Brussels, School of Medicine, Campus Erasme, Route de Lennik 808, B-1070 Brussels, Belgium;(3) Service de Chimie, Hôpital Erasme, Free University of Brussels, School of Medicine, Campus Erasme, Route de Lennik 808, B-1070 Brussels, Belgium |
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| Abstract: | Summary Complete absence of human somatomammotropin (hCS) was demonstrated in two patients experiencing an otherwise uneventful pregnancy. After delivery, DNA was prepared from the neonate blood or from the placenta and the integrity of the hCS-hGH gene cluster was investigated by Southern blotting and hybridization with an hCS cDNA probe. Patient 1 was found to be homozygous for a deletion involving hCS-A, hGH-V, and hCS-B. Patient 2 was a double heterozygote, with one chromosome bearing the same deletion as that of patient 1, while in the other, only the hCS-A gene was missing. Considerations relative to the frequency of the defect are derived from the present results. |
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