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Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion

Human Genetics volume 74, pages 235–238 (1986)Cite this article

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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Affiliations

  1. Institute of Interdisciplinary Research, Free University of Brussels, School of Medicine, Campus Erasme, Route de Lennik 808, B-1070, Brussels, Belgium

    Ph. Simon, C. Decoster, H. Brocas & G. Vassart

  2. Service de Gynécologie, Hôpital Erasme, Free University of Brussels, School of Medicine, Campus Erasme, Route de Lennik 808, B-1070, Brussels, Belgium

    J. Schwers

  3. Service de Chimie, Hôpital Erasme, Free University of Brussels, School of Medicine, Campus Erasme, Route de Lennik 808, B-1070, Brussels, Belgium

    C. Decoster & G. Vassart

Authors
  1. Ph. Simon
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  2. C. Decoster
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  3. H. Brocas
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  4. J. Schwers
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  5. G. Vassart
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Simon, P., Decoster, C., Brocas, H. et al. Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion. Hum Genet 74, 235–238 (1986). https://doi.org/10.1007/BF00282540

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  • DOI: https://doi.org/10.1007/BF00282540

Keywords

  • Internal Medicine
  • Metabolic Disease
  • Gene Cluster
  • Southern Blotting
  • Gene Deletion