title: Pattern of presentation of the human growth hormone variant (hGH-V) gene in the normal population.
abstract: The human growth hormone variant (hGH-V) gene is a member of the GH gene family, expressed by the syncytiotrophoblast. Although its physiological role is poorly understood, certain data suggest that it may be involved in the control of fetal growth and development. As a first step to asses its physiological relevance, we investigated its degree of polymorphism in the normal population. Genetic studies have been difficult to carry out due to the high sequence identity among GH-family members. We overcame this problem by selectively amplifying a fragment of the hGH-V gene by PCR. DSCP analysis of the amplimers revealed a heterozygous pattern in one of the 64 subjects studied. Investigation of the subject's relatives showed a similar pattern in his father. In all, our results indicate that the hGH-V gene is highly conserved in the normal population.
authors.affiliation: Department of Physiology, School of Medicine, Santiago de Compostela, Spain.
authors.forename: J A
authors.initials: JA
authors.lastname: Costoya
authors.forename: V
authors.initials: V
authors.lastname: Arce
authors.forename: J
authors.initials: J
authors.lastname: Devesa
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D017124:Conserved Sequence; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D019382:Human Growth Hormone / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D019382:Human Growth Hormone