title: Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
abstract: BACKGROUND
  In Sardinia the mutational spectrum of CFTR gene is well defined. A mutation detection rate of 94% can be achieved by screening for 15 CFTR mutations with a frequency higher than 0.5%. The efficiency of this molecular test suggests that Sardinians may represent a suitable population for a preconceptional screening.
  
  
  METHODS
  Five hundred couples of Sardinia descent were screened for 38 mutations using a semi-automated reverse-dot blot and PCR-gel electrophoresis assays. This mutation panel included the 15 most frequent CF alleles in Sardinia.
  
  
  RESULTS
  We identified 38 CF carriers, revealing an overall frequency of 1/25 (4%). The most common CF allele was the p.Thr338Ile (T338I) (65%), followed by the p.Phe508del (F508del) (22.5%). We also identified one couple at risk and an asymptomatic female homozygote for the p.Thr338Ile allele.
  
  
  CONCLUSIONS
  In spite of the low number of the couples tested, the results herein reported demonstrate the efficacy and efficiency of the preconceptional screening program and the high participation rate of the Sardinian population (99%).
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Coiana
authors.forename: Valeria
authors.initials: V
authors.lastname: Faa'
authors.forename: Daniela
authors.initials: D
authors.lastname: Carta
authors.forename: Rosalba
authors.initials: R
authors.lastname: Puddu
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000592:standards*; D006720:Homozygote; D006801:Humans; D007532:Isoleucine; D007558:Italy; D008297:Male; D009154:Mutation; D010649:Phenylalanine; D010865:Pilot Projects; D013912:Threonine
chemical_list: D007532:Isoleucine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013912:Threonine; D010649:Phenylalanine