Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature

Authors

  • Carlos Del Águila Hospital Nacional de Salud del Niño. Lima, Perú. Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.
  • César Ortiz Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.
  • Mirtha Yarlequé Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.
  • Candy Bellido Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.
  • Miguel Zaldivar Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.
  • Juan Falen Hospital Nacional de Salud del Niño. Lima, Perú.

DOI:

https://doi.org/10.17843/rpmesp.2016.331.1898

Keywords:

Growth hormone receptors, Polymorphism, Genotype, Body height

Abstract

Objectives. 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. Materials and 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.

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Published

2016-02-12

Issue

Section

Original Article

How to Cite

1.
Del Águila C, Ortiz C, Yarlequé M, Bellido C, Zaldivar M, Falen J. Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature. Rev Peru Med Exp Salud Publica [Internet]. 2016 Feb. 12 [cited 2024 May 29];33(1):45-50. Available from: https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/1898