title: ΔF508 mutation screening of healthy individuals from two populations in Espírito Santo State, Brazil.
abstract: The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a subpopulation of Pomeranian descent, considered to be an isolated group in which the European gene pool has been preserved, living in Santa Maria do Jetibá (also in ES). We found this mutation to be present at a frequency of 0.81% among the Pomeranian group, and 0% in the general ES population. No genetic differentiation was noted between the two populations examined (FST= 0.004), and these frequencies were found to be similar to those estimated in other states of Southeastern Brazil. Although the population of Santa Maria de Jetibá has retained Pomeranian traits, such as language, fair skin, and eye color, to date, there is no evidence of inbreeding in this group (FIS= -0.004). Screening healthy individuals for the ΔF508 mutation can facilitate genetic counseling for cystic fibrosis, as well as inform evolutionary and population studies.
authors.affiliation: The Masters School, Dobbs Ferry, NY, USA.
authors.forename: A M
authors.initials: AM
authors.lastname: Lanes
authors.affiliation: Escola São Domingos, Vitória, ES, Brasil.
authors.forename: L S
authors.initials: LS
authors.lastname: Louro
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: D P
authors.initials: DP
authors.lastname: Ventorim
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: E
authors.initials: E
authors.lastname: Stur
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: F M
authors.initials: FM
authors.lastname: Garcia
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: L P
authors.initials: LP
authors.lastname: Agostini
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: L N R
authors.initials: LN
authors.lastname: Alves
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: R S
authors.initials: RS
authors.lastname: Reis
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil.
authors.forename: I D
authors.initials: ID
authors.lastname: Louro
authors.affiliation: Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brasil rasdett@yahoo.com.br.
authors.forename: R S
authors.initials: RS
authors.lastname: Dettogni
mesh_terms: D001938:Brazil; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D042241:Early Diagnosis; D051456:Gene Flow; D005787:Gene Frequency; D005817:Genetic Counseling; D064368:Healthy Volunteers; D006801:Humans; D009154:Mutation; D044465:White People / Q000208:ethnology* / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator