title: [GHRd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature].
abstract: OBJECTIVE
  To describe the standardization of molecular detection and frequency of a growth hormone receptor gene deleted for exon three (GHRd3) polymorphism in a population of Peruvian children with idiopathic short stature.
  
  
  METHODS
  Peripheral blood samples were used from patients (N=64) who were diagnosed with idiopathic short stature and were treated at the endocrinology unit of the National Institute of Child Health in Peru The amplification of exon 3 was carried out using G1, G2, and G3 primers by optimizing PCR conditions, such as annealing temperature and magnesium concentration.
  
  
  RESULTS
  The specificity of primers was maximized at 67 °C and there were no differences between magnesium concentration tests. Two-thirds (67%) of patients were GHRfl homozygous, 28% were heterozygous, and 5% were GHRd3 homozygous.
  
  
  CONCLUSIONS
  The test was useful in determining the genotypes of patients with idiopathic short stature and revealed that only 5% had a genotype that would respond better to rhGH treatment. Thus, molecular assays may be useful when considering the decision to start drug therapy.
authors.forename: Carlos
authors.initials: C
authors.lastname: Del Águila
authors.forename: César
authors.initials: C
authors.lastname: Ortiz
authors.forename: Mirtha
authors.initials: M
authors.lastname: Yarlequé
authors.forename: Candy
authors.initials: C
authors.lastname: Bellido
authors.forename: Miguel
authors.initials: M
authors.lastname: Zaldivar
authors.forename: Juan
authors.initials: J
authors.lastname: Falen
mesh_terms: D001827:Body Height; D002648:Child; D005091:Exons; D005260:Female; D019382:Human Growth Hormone; D006801:Humans; D007334:Insulin-Like Growth Factor I; D008297:Male; D010568:Peru; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I