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

Translated title of the contribution: GHRd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature

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

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Translated title of the contributionGHRd3 polymorphism of growth hormone receptor gen in peruvian children with idiopathic short stature
Original languageSpanish
Pages (from-to)45-50
Number of pages6
JournalRevista Peruana de Medicina de Experimental y Salud Publica
Volume33
Issue number1
DOIs
StatePublished - 1 Jan 2016
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2016, Instituto Nacional de Salud. All Rights Reserved.

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