title: Analysis of coding and promoter sequences of the IGF-I gene in children with growth disorders presenting with normal level of growth hormone.
abstract: The insulin-like growth factor-I (IGF-I) gene was analyzed in a population of children with growth disorders presenting normal GH and low IGF-I. We thus tried to detect any mutation in the IGF-I gene that could be responsible for short stature in children, using PCR, single-strand conformation polymorphism (SSCP) analysis, followed by DNA cloning and sequencing. We demonstrated in all examined children significant changes in the promoter region of the IGF-I gene (P1 IGF-I). Nucleotide sequence changes, such as CC-->GT and A-->G, and their localization are described. The results obtained excluded mutations in the coding sequence of the IGF-I gene. We conclude that testing the IGF-I P1 region, using PCR/SSCP analysis, could be useful in the diagnosis of growth disorders.
authors.affiliation: Department of Molecular Biology, Adam Mickiewicz University, Poznan, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Obrepalska-Steplowska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kedzia
authors.forename: Jerzy
authors.initials: J
authors.lastname: Trojan
authors.forename: Anna
authors.initials: A
authors.lastname: Goździcka-Józefiak
mesh_terms: D000293:Adolescent; D001483:Base Sequence / Q000235:genetics; D001827:Body Height / Q000235:genetics; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D019382:Human Growth Hormone / Q000097:blood*; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008967:Molecular Biology / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I