Polimorfismo GHRd3 del gen del receptor de la hormona de crecimiento en niños peruanos con talla baja idiopática

Carlos Del Águila, César Ortiz, Mirtha Yarlequé, Candy Bellido, Miguel Zaldivar, Juan Falen

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

2 Citas (Scopus)

Resumen

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.

Título traducido de la contribuciónGHRd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature
Idioma originalEspañol
Páginas (desde-hasta)45-50
Número de páginas6
PublicaciónRevista Peruana de Medicina Experimental y Salud Publica
Volumen33
N.º1
DOI
EstadoPublicada - 1 ene. 2016

Palabras clave

  • Body height
  • Genotype
  • Growth hormone receptors
  • Polymorphism

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