Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature
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 (...
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2016-02-01
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doaj-94bd161188ff4d6ebb4a318e025701402020-11-25T03:04:41ZspaInstituto Nacional de SaludRevista Peruana de Medicina Experimental y Salud Pública1726-46341726-46422016-02-01331455010.17843/rpmesp.2016.331.18981709Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short statureCarlos Del Águila0César Ortiz1Mirtha Yarlequé2Candy Bellido3Miguel Zaldivar4Juan Falen5Hospital Nacional de Salud del Niño. Lima, Perú. Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.Facultad de Medicina, Universidad Nacional Federico Villarreal. Lima, Perú.Hospital Nacional de Salud del Niño. Lima, Perú.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.https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/1898receptores de hormona del crecimientopolimorfismogenotipoestatura |
collection |
DOAJ |
language |
Spanish |
format |
Article |
sources |
DOAJ |
author |
Carlos Del Águila César Ortiz Mirtha Yarlequé Candy Bellido Miguel Zaldivar Juan Falen |
spellingShingle |
Carlos Del Águila César Ortiz Mirtha Yarlequé Candy Bellido Miguel Zaldivar Juan Falen Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature Revista Peruana de Medicina Experimental y Salud Pública receptores de hormona del crecimiento polimorfismo genotipo estatura |
author_facet |
Carlos Del Águila César Ortiz Mirtha Yarlequé Candy Bellido Miguel Zaldivar Juan Falen |
author_sort |
Carlos Del Águila |
title |
Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature |
title_short |
Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature |
title_full |
Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature |
title_fullStr |
Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature |
title_full_unstemmed |
Ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature |
title_sort |
ghrd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature |
publisher |
Instituto Nacional de Salud |
series |
Revista Peruana de Medicina Experimental y Salud Pública |
issn |
1726-4634 1726-4642 |
publishDate |
2016-02-01 |
description |
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. |
topic |
receptores de hormona del crecimiento polimorfismo genotipo estatura |
url |
https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/1898 |
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