title: Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screening.
abstract: OBJECTIVE
  Saguenay-Lac-Saint-Jean is a region located in the northeastern part of the Province of Quebec, Canada, and is characterized by a founder effect. In this region, it has been documented that the incidence of cystic fibrosis reached 1/902 live births between 1975 and 1988, three times higher than the average incidence of 1/2500 live births reported in other Caucasian populations. This corresponds to a carrier rate of 1/15.
  
  
  METHODS
  Using genotyping data from the Canadian Consortium for Cystic Fibrosis Genetic Studies, this article describes the cystic fibrosis transmembrane conductance regulator profile of the cystic fibrosis population living in the Saguenay-Lac-Saint-Jean region and compares it with cystic fibrosis populations living in three other regions of the Province of Quebec.
  
  
  RESULTS
  Significant differences in allelic frequencies of common mutations (as DeltaF508, 621 + 1G>T and A455E), and in percentage of covered allele with three or six mutations, were found in Saguenay-Lac-Saint-Jean compared to other regions. Based on this result, two mutation panels exceeding 90% sensitivity threshold are now proposed for cystic fibrosis carrier screening in this region.
  
  
  CONCLUSIONS
  The implementation of the proposed carrier screening program could diminish the incidence of this disease in this region and allow future parents to make informed decisions about family planning.
authors.affiliation: Université Laval, Québec, Canada.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Madore
authors.forename: Claude
authors.initials: C
authors.lastname: Prévost
authors.forename: Ruslan
authors.initials: R
authors.lastname: Dorfman
authors.forename: Chelsea
authors.initials: C
authors.lastname: Taylor
authors.forename: Peter
authors.initials: P
authors.lastname: Durie
authors.forename: Julian
authors.initials: J
authors.lastname: Zielenski
authors.forename: Catherine
authors.initials: C
authors.lastname: Laprise
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D009154:Mutation; D010641:Phenotype; D011792:Quebec / Q000453:epidemiology
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator