Abstract

MORALES DE MACHIN, Alisandra et al. Identificación de la mutación ΔF508 en afectados con íleo meconial. Rev Obstet Ginecol Venez [online]. 2016, vol.76, n.1, pp.53-59. ISSN 0048-7732.

Objective: To perform ΔF508 mutation in patients with meconium ileus. Setting: In the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. Methods: We studied 10 patients with meconium ileus. Detection of the mutation was performed from the amplification of a 98 pair of bases cystic fibrosis gene segment which contains the codon that encodes fenilalanine in the 508 position by polymerase chain reaction. This amplified product is absent in those who have the mutation. Results: The ΔF508 mutation was detected in both alleles of the cystic fibrosis gene in 3 patients, 5 were heterozygous for this mutation and in two patients were undetectable. Conclusion: Meconium ileus was the marker that suggested the diagnosis of cystic fibrosis and allowed the genetic counseling in this family to confirm the presence of the ΔF508 mutation.

Keywords : Meconium ileus; Cystic fibrosis; F508 mutation; Genetic counseling.

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