Frequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique

Authors

  • Ruth Aquino Universidad Nacional de Tumbes. Tumbes, Perú. Empresa de Investigación y Capacitación en Biotecnología Inca’Biotec. Tumbes, Perú. Biólogo, magister en Biotecnología Molecular
  • Ana Protzel Hospital Nacional Edgardo Rebagliati Martins. Lima, Perú. pediatra, genetista
  • Juan Rivera Instituto Nacional de Salud del Niño. Lima, Perú. Pediatra, gastroenterólogo
  • Hugo Abarca Instituto Nacional de Salud del Niño. Lima, Perú. médico genetista
  • Milagros Dueñas Hospital Nacional Edgardo Rebagliati Martins. Lima, Perú. médico genetista
  • Cecilia Nestarez Asociación de Padres de Niños con Fibrosis Quística. Lima, Perú. Obstetra
  • Nestor Purizaga Universidad Nacional de Tumbes. Tumbes, Perú. patólogo clínico
  • Benoit Diringer Empresa de Investigación y Capacitación en Biotecnología Inca’Biotec. Tumbes, Perú. magister en Ciencias de la Vida y de la Tierra

DOI:

https://doi.org/10.17843/rpmesp.2017.341.2767

Keywords:

Cystic Fibrosis, Mutation, Diagnosis, Peru

Abstract

Objectives. To determine the frequency of the ten most common mutations of the CFTR gene reported in Latin America using amplification-refractory mutation system–polymerase chain reaction (ARMS-PCR) in patients with cystic fibrosis (CF) in two referral hospitals in Peru during the year 2014. Materials and Methods. The frequency of the ten most common mutations of the CFTR gene was assessed in patients of the Hospital Nacional Edgardo Rebagliati Martins and the Instituto Nacional de Salud del Niño, both located in Lima, Peru. Blood samples were collected from 36 patients with CF, and the ARMS-PCR technique was used to determine the presence of these mutations. Results. The study group included 73.5% of patients with a known diagnosis of CF in the country when the study was carried out. ARMS-PCR allowed three of the mutations to be identified in a combined 30.6% of the alleles from patients with CF, and 64.9% of the mutated alleles were not identified. The mutations found were p.Phe508del (22,2%), p.Gly542* (6,9%), and p.Arg1162* (1,4%). Conclusions. There is significant variability in both the frequency and type of mutations present in our study population and in what has been reported in other Latin American countries. It is necessary to perform studies that use complete sequencing technology for the CFTR gene to identify other mutations present in our population.

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Published

2017-03-23

Issue

Section

Original Article

How to Cite

1.
Aquino R, Protzel A, Rivera J, Abarca H, Dueñas M, Nestarez C, et al. Frequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique. Rev Peru Med Exp Salud Publica [Internet]. 2017 Mar. 23 [cited 2024 Jun. 15];34(1):62-9. Available from: https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/2767

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