title: The DeltaF508 mutation in Ecuador, South America.
abstract: There are few reports about the incidence of the DeltaF508 mutation in Latin American countries. We show the study of the DeltaF508 mutation and the seven most common "European" mutations in 10 Ecuadorian CF affecteds. The incidence of DeltaF508 mutation found was 25% and none of the other seven was detected in our population, which indicates that at least 60% of the mutations in the studied population are different from most common in Europe. Similar data have been reported in other Amerindian populations, therefore it is suggested that Cystic Fibrosis in Ecuador-and other Amerindian countries in Latin America-have a different ethiology than that of Caucasian populations.
authors.affiliation: Laboratorio de Genética Molecular y Citogenética Humana, Departamento de Ciencias Biológicas, Pontificia Universidad Católica del Ecuador, Quito, Ecuador. cpazymino@puceuiio.puce.edu.ec
authors.forename: C
authors.initials: C
authors.lastname: Paz-y-Miño
authors.forename: J C
authors.initials: JC
authors.lastname: Pérez
authors.forename: R
authors.initials: R
authors.lastname: Burgos
authors.forename: M V
authors.initials: MV
authors.lastname: Dávalos
authors.forename: P E
authors.initials: PE
authors.lastname: Leone
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004484:Ecuador / Q000453:epidemiology; D005060:Europe; D005260:Female; D006801:Humans; D015994:Incidence; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator