Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR

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

Ruth Aquino, Ana Protzel, Juan Rivera, Hugo Abarca, Milagros Dueñas, Cecilia Nestarez, Nestor Purizaga, Benoit Diringer

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Translated title of the contributionFrequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique
Original languageSpanish
Pages (from-to)62-69
Number of pages8
JournalRevista Peruana de Medicina Experimental y Salud Publica
Volume34
Issue number1
DOIs
StatePublished - 1 Jan 2017

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