title: Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
abstract: Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. The disease can be caused by one of the more than 900 different mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. However, the deletion of the phe508-codon is the most prevalent mutation observed. Our aim was to perform a screening for this mutation (DeltaF508, or F508del) in the population of Mendoza, Argentina. For the screening, 1,000 blood samples were obtained from CF asymptomatic individuals and combined into 100 pools each containing 10 different blood samples. Pools containing at least one F508del carrier were detected by heteroduplex formation during the PCR amplification of exon 10. The PCR was designed to introduce a recognition site for a restriction enzyme that confirmed the presence of the deletion F508del in the positive pools. The results with this simple method indicate a frequency of carriers in the Mendoza population of 2.1% (1.3%-3.2, 95% confidence limits). The observed frequency of carriers is similar to that reported for European populations. Hum Mutat 18:167, 2001.
authors.affiliation: Laboratorio de Biología Celular y Molecular, IHEM (UNCuyo-CONICET), Facultad de Ciencias Médicas, Universidad Nacional de Cuyo, Mendoza, Argentina. mroque@fmed2.uncu.edu.ar
authors.forename: M
authors.initials: M
authors.lastname: Roqué
authors.forename: C P
authors.initials: CP
authors.lastname: Godoy
authors.forename: M
authors.initials: M
authors.lastname: Castellanos
authors.forename: E
authors.initials: E
authors.lastname: Pusiol
authors.forename: L S
authors.initials: LS
authors.lastname: Mayorga
mesh_terms: D001118:Argentina; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000097:blood / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D009692:Nucleic Acid Heteroduplexes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator