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.
MeSH terms
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Adolescent
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Body Height / genetics
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Child
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Cloning, Molecular
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Codon
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DNA / genetics
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DNA / isolation & purification
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Exons
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Female
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Growth Disorders / genetics*
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Human Growth Hormone / blood
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Humans
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Insulin-Like Growth Factor I / genetics*
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Insulin-Like Growth Factor I / metabolism
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Male
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Phenotype
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Polymorphism, Single-Stranded Conformational
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Receptors, Somatotropin / genetics*
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Codon
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Receptors, Somatotropin
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Human Growth Hormone
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Insulin-Like Growth Factor I
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DNA