title: Analysis of the human growth hormone receptor and IGF-I coding sequences in children with growth disorders.
abstract: Analysis of GHR and IGF-I coding sequences in 47 children with normal serum levels of GH, low IGF-I and growth disorders generally did not show mutation in the genes studied. Only one boy had a mutation located in the fifth exon of the GHR gene (C-->T in codon 88). This suggests that the growth disorders in this group of children might be due to a defect in a DNA region regulating expression of the GHR and IGF1 genes or genes involved in their regulation.
authors.affiliation: Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland. alexandr@amu.edu.pl
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Obrepalska-Steplowska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kedzia
authors.forename: Anna
authors.initials: A
authors.lastname: Goździcka-Józefiak
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Jakubowicz
authors.forename: Eugeniusz
authors.initials: E
authors.lastname: Korman
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000235:genetics; D002648:Child; D003001:Cloning, Molecular; D003062:Codon; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; 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; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011986:Receptors, Somatotropin / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D003062:Codon; D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D004247:DNA