Analysis of cftr gene mutations and cystic fibrosis incidence in the ecuatorian population Report as inadecuate




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Ramiro Israel Burgos ; José Rubén Valle ; Daniela Egas Béjar ; Juan-Carlos Ruiz-Cabezas ;Investigación Clínica 2007, 48 1

Author: Édison Patricio Valle

Source: http://www.redalyc.org/articulo.oa?id=372937666008


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Investigación Clínica ISSN: 0535-5133 riclinicas@gmail.com Universidad del Zulia Venezuela Valle, Édison Patricio; Burgos, Ramiro Israel; Valle, José Rubén; Egas Béjar, Daniela; Ruiz-Cabezas, Juan-Carlos Analysis of CFTR gene mutations and Cystic Fibrosis incidence in the Ecuatorian population Investigación Clínica, vol.
48, núm.
1, 2007, pp.
91-98 Universidad del Zulia Maracaibo, Venezuela Available in: http:--www.redalyc.org-articulo.oa?id=372937666008 How to cite Complete issue More information about this article Journals homepage in redalyc.org Scientific Information System Network of Scientific Journals from Latin America, the Caribbean, Spain and Portugal Non-profit academic project, developed under the open access initiative Invest Clin 48(1): 91 - 98, 2007 Analysis of CFTR gene mutations and Cystic Fibrosis incidence in the Ecuatorian population. Édison Patricio Valle1, Ramiro Israel Burgos2, José Rubén Valle3, Daniela Egas Béjar3 and Juan-Carlos Ruiz-Cabezas1,2. Instituto de Biomedicina, Universidad Católica de Santiago de Guayaquil, Unidad de Genética de la Sociedad de Lucha Contra el Cáncer (SOLCA) y 3Hospital Pediátrico Francisco de Icaza Bustamante, Guayaquil, Ecuador. Email: patovalleg@gmail.com 1 2 Key words: Cystic fibrosis, CF, CFTR, Ecuadorian incidence, F508del, G85E. Abstract.
Ecuador is one of the Latin American countries where cystic fibrosis has not been thoroughly studied.
The goal of this study was to establish the incidence of this specific pathology and the incidence of the 29 most common European CF mutations in Ecuador´s population.We performed a prospective-descriptive study with the intention of including patients registered at the Ecuadorian Cystic Fibrosis Foundation as well as the main pediatric hospitals in Ecuador.
The inclusion criteria were clinical manifestations of cystic fibrosis plus two positive pilocarpine iontophoresis sweat tests (CI 60 mEq-L).
We tested F508del mutation by heteroduplex metho...





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