Key result
Significant nucleotide sequence changes were identified in the promoter region of the IGF-I gene in all examined children with growth disorders, with no mutations in the coding sequence.
Observational
Testing the IGF-I P1 region using PCR/SSCP analysis could be useful in diagnosing growth disorders in children with normal GH and low IGF-I.
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IGF-I promoter variants should not yet change growth disorder evaluation; leaves open diagnostic role pending validation studies.
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.
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Obrępalska‐Stęplowska et al. (2003) conducted an observational in Growth disorders. IGF-I gene mutations was evaluated on Mutations in the IGF-I gene. Significant nucleotide sequence changes were identified in the promoter region of the IGF-I gene in all examined children with growth disorders, with no mutations in the coding sequence.
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