Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion
Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion
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.
- Erasmus Hospital Belgium
- Université Libre de Bruxelles Belgium
- Free University of Brussels Belgium
Genetic Markers, Male, Chromosomes, Placental Lactogen -- genetics, Pregnancy, Pair 17 -- ultrastructure, DNA -- analysis, Humans, Polymorphism, Infant, Newborn, Infant, DNA, Sciences bio-médicales et agricoles, Newborn, Placental Lactogen, Restriction Fragment Length, Genes, Placental Lactogen -- deficiency, Female, Chromosome Deletion, Polymorphism, Restriction Fragment Length, Human, Chromosomes, Human, Pair 17
Genetic Markers, Male, Chromosomes, Placental Lactogen -- genetics, Pregnancy, Pair 17 -- ultrastructure, DNA -- analysis, Humans, Polymorphism, Infant, Newborn, Infant, DNA, Sciences bio-médicales et agricoles, Newborn, Placental Lactogen, Restriction Fragment Length, Genes, Placental Lactogen -- deficiency, Female, Chromosome Deletion, Polymorphism, Restriction Fragment Length, Human, Chromosomes, Human, Pair 17
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